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Wyszukujesz frazę ""Survival of Motor Neuron 1 Protein"" wg kryterium: Temat


Tytuł :
Stability and Oligomerization of Mutated SMN Protein Determine Clinical Severity of Spinal Muscular Atrophy.
Autorzy :
Niba ETE; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Hyogo, Japan.
Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
Ar Rochmah M; Department of Neurology, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Jalan Farmako, Sekip Utara, Yogyakarta 55281, Indonesia.
Takarada T; Laboratory of Functional Molecular Chemistry, Kobe Pharmaceutical University, 4-19-1 Motoyamakitamachi, Higashinada-ku, Kobe 658-8558, Hyogo, Japan.
Takeuchi A; Instrumental Analysis Center, Kobe Pharmaceutical University, 4-19-1 Motoyamakitamachi, Higashinada-ku, Kobe 658-8558, Hyogo, Japan.
Kimizu T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, 840 Murodo-cho, Izumi 594-1101, Osaka, Japan.
Okamoto K; Department of Pediatrics, Ehime Prefectural Imabari Hospital, 4-5-5 Ishii-cho, Imabari 794-0006, Ehime, Japan.
Saito T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Osaka, Japan.
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-2 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
Takeshima Y; Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Hyogo, Japan.
Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Hyogo, Japan.
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Źródło :
Genes [Genes (Basel)] 2022 Jan 24; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*/genetics
Survival of Motor Neuron 1 Protein*/genetics
DNA, Complementary ; HeLa Cells ; Homozygote ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Survival motor neuron protein deficiency alters microglia reactivity.
Autorzy :
Khayrullina G; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Alipio-Gloria ZA; Calibr, Scripps Research Institute, La Jolla, California, USA.
Deguise MO; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Gagnon S; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
Chehade L; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.
Stinson M; Department of Biochemistry, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Belous N; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Bergman EM; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Lischka FW; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Rotty J; Department of Biochemistry, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
Dalgard CL; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
Kothary R; Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Ontario, Canada.; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.
Johnson KA; Calibr, Scripps Research Institute, La Jolla, California, USA.
Burnett BG; Department of Anatomy, Physiology, and Genetics, Uniformed Services University of the Health Sciences, F. Edward Hebert School of Medicine, Bethesda, Maryland, USA.
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Źródło :
Glia [Glia] 2022 Jul; Vol. 70 (7), pp. 1337-1358. Date of Electronic Publication: 2022 Apr 04.
Typ publikacji :
Journal Article
MeSH Terms :
Induced Pluripotent Stem Cells*/metabolism
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
Protein Deficiency*/metabolism
Protein Deficiency*/pathology
Animals ; Disease Models, Animal ; Humans ; Mice ; Microglia/metabolism ; Motor Neurons/pathology ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł :
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model.
Autorzy :
Wang J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Bai J; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
OuYang S; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Wang H; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Jin Y; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Peng X; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Ge X; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Jiao H; Department of Neurology, Children's Hospital Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Zou J; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
He C; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Xiao P; Department of pathology, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
Song F; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
Qu Y; Department of Medical Genetics, Capital Institute of Pediatrics, Beijing, 100020, P.R. China.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2022 May 19; Vol. 31 (10), pp. 1635-1650.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*/metabolism
Oligonucleotides, Antisense*/genetics
Animals ; Cell Line ; Disease Models, Animal ; Humans ; Mice ; Motor Neurons/metabolism ; Promoter Regions, Genetic/genetics ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
SMN loss dysregulates microtubule-associated proteins in spinal muscular atrophy model.
Autorzy :
Zobaroğlu Özer P; Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
Koyunoğlu D; Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
Son ÇD; Middle East Technical University, Faculty of Arts and Sciences, Department of Biological Sciences, Ankara, Turkey.
Erdem-Yurter H; Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey.
Bora G; Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey. Electronic address: .
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Źródło :
Molecular and cellular neurosciences [Mol Cell Neurosci] 2022 May; Vol. 120, pp. 103725. Date of Electronic Publication: 2022 Apr 05.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
Neurodegenerative Diseases*/metabolism
Animals ; Disease Models, Animal ; Microtubule-Associated Proteins/metabolism ; Motor Neurons/metabolism ; Nerve Degeneration/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł :
Premature termination codons in SMN1 leading to spinal muscular atrophy trigger nonsense-mediated mRNA decay.
Autorzy :
Zhang M; Laboratory of Basic Medicine, Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College (900 Hospital of the Joint Logistics Team), Fujian Medical University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China.
Lin Y; Laboratory of Basic Medicine, Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College (900 Hospital of the Joint Logistics Team), Fujian Medical University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China.
Zhang X; Laboratory of Basic Medicine, Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College (900 Hospital of the Joint Logistics Team), Fujian Medical University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China.
Lan F; Laboratory of Basic Medicine, Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College (900 Hospital of the Joint Logistics Team), Fujian Medical University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China.
Zeng J; Laboratory of Basic Medicine, Fujian Provincial Key Laboratory of Transplant Biology, Fuzong Clinical Medical College (900 Hospital of the Joint Logistics Team), Fujian Medical University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China; Laboratory of Basic Medicine, Dongfang Hospital of Xiamen University, School of Medicine, Xiamen University, 156 Xi'erhuanbei Road, Fuzhou City, Fujian Province, China. Electronic address: .
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Źródło :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 May 01; Vol. 530, pp. 45-49. Date of Electronic Publication: 2022 Mar 03.
Typ publikacji :
Journal Article
MeSH Terms :
Codon, Nonsense*/genetics
Muscular Atrophy, Spinal*/genetics
Cycloheximide/pharmacology ; Humans ; Nonsense Mediated mRNA Decay ; RNA Helicases/genetics ; RNA Helicases/metabolism ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Trans-Activators/genetics ; Trans-Activators/metabolism
Czasopismo naukowe
Tytuł :
Viral mediated knockdown of GATA6 in SMA iPSC-derived astrocytes prevents motor neuron loss and microglial activation.
Autorzy :
Allison RL; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Welby E; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Khayrullina G; Department of Anatomy, Physiology, and Genetics, Uniformed Services University, Bethesda, Maryland, USA.
Burnett BG; Department of Anatomy, Physiology, and Genetics, Uniformed Services University, Bethesda, Maryland, USA.
Ebert AD; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
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Źródło :
Glia [Glia] 2022 May; Vol. 70 (5), pp. 989-1004. Date of Electronic Publication: 2022 Jan 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Induced Pluripotent Stem Cells*/metabolism
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
Animals ; Astrocytes/metabolism ; Child ; Disease Models, Animal ; GATA6 Transcription Factor/genetics ; GATA6 Transcription Factor/metabolism ; GATA6 Transcription Factor/pharmacology ; Humans ; Microglia/metabolism ; Motor Neurons/pathology ; Nerve Degeneration/pathology ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 1 Protein/therapeutic use
Czasopismo naukowe
Tytuł :
Simultaneous quantification of SMN1 and SMN2 copy numbers by MALDI-TOF mass spectrometry for spinal muscular atrophy genetic testing.
Autorzy :
Jin W; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yang Z; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Tang X; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
Wang X; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Huang Y; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Hui C; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Yao J; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China.
Luan J; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China; InnoMed Diagnostics Inc, Wenzhou, China.
Tang S; Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Wu S; Molecular Diagnostic Laboratory, Shanghai Children's Hospital, Shanghai Jiaotong University, Shanghai, China. Electronic address: .
Jin S; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: .
Ding C; School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou, Zhejiang, China; Key Laboratory of Laboratory Medicine, Ministry of Education, Wenzhou Medical University, Wenzhou, Zhejiang, China. Electronic address: .
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Źródło :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2022 Jul 01; Vol. 532, pp. 45-52. Date of Electronic Publication: 2022 May 26.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Gene Dosage ; Genetic Testing ; Homozygote ; Humans ; Motor Neurons ; Sequence Deletion ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł :
Disruption of Survival Motor Neuron in Glia Impacts Survival but has no Effect on Neuromuscular Function in Drosophila.
Autorzy :
Farrugia M; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Vassallo N; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta.
Cauchi RJ; Centre for Molecular Medicine and Biobanking, Biomedical Sciences Building, University of Malta, Msida, Malta; Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, Msida, Malta. Electronic address: .
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Źródło :
Neuroscience [Neuroscience] 2022 May 21; Vol. 491, pp. 32-42. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Muscular Atrophy, Spinal*
Aging ; Animals ; DNA-Binding Proteins/metabolism ; Drosophila/metabolism ; Motor Neurons/physiology ; Neuroglia/metabolism ; Ribonucleoproteins, Small Nuclear/metabolism ; SMN Complex Proteins/metabolism ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł :
Evaluation of exonic copy numbers of SMN1 and SMN2 genes in SMA.
Autorzy :
Arikan Y; Bozok University School of Medicine, Department of Medical Genetics, Yozgat, Turkey; Radboud University Medical Centre, Department of Human Genetics, Nijmegen, Netherland. Electronic address: .
Berker Karauzum S; Akdeniz University School of Medicine, Department of Medical Biology, Antalya, Turkey; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
Uysal H; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: .
Mihci E; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Nur B; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Duman O; Akdeniz University School of Medicine, Department of Neurology, Antalya, Turkey. Electronic address: .
Haspolat S; Akdeniz University School of Medicine, Department of Pediatry, Antalya, Turkey. Electronic address: .
Altiok Clark O; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
Toylu A; Akdeniz University School of Medicine, Department of Medical Genetics, Antalya, Turkey. Electronic address: .
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Źródło :
Gene [Gene] 2022 May 20; Vol. 823, pp. 146322. Date of Electronic Publication: 2022 Feb 25.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Copy Number Variations*
Sequence Deletion*
Muscular Atrophy, Spinal/*genetics
Survival of Motor Neuron 1 Protein/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Consanguinity ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation Rate ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
Czasopismo naukowe
Tytuł :
A novel CARM1-HuR axis involved in muscle differentiation and plasticity misregulated in spinal muscular atrophy.
Autorzy :
Ravel-Chapuis A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Haghandish A; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Daneshvar N; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Jasmin BJ; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
Côté J; Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.; Eric Poulin Centre for Neuromuscular Disease, Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2022 May 04; Vol. 31 (9), pp. 1453-1470.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/pathology
Animals ; Disease Models, Animal ; ELAV-Like Protein 1 ; Mice ; Motor Neurons/metabolism ; Muscles/metabolism ; Protein-Arginine N-Methyltransferases/genetics ; Protein-Arginine N-Methyltransferases/metabolism ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł :
Management of Spinal Muscular Atrophy in the Adult Population.
Autorzy :
Rad N; Department of Physical Medicine and Rehabilitation, University of Washington, Seattle, Washington, USA.
Cai H; Department of Physical Medicine and Rehabilitation, University of Washington, Seattle, Washington, USA.
Weiss MD; Department of Neurology, University of Washington, Seattle, Washington, USA.
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Źródło :
Muscle & nerve [Muscle Nerve] 2022 May; Vol. 65 (5), pp. 498-507. Date of Electronic Publication: 2022 Feb 26.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Adult ; Genetic Therapy ; Homozygote ; Humans ; Motor Neurons/pathology ; Phenotype ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł :
Risdiplam: an investigational survival motor neuron 2 (SMN2) splicing modifier for spinal muscular atrophy (SMA).
Autorzy :
Markati T; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Fisher G; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Ramdas S; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Servais L; MDUK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège & University of Liège, Liege, Belgium.
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Źródło :
Expert opinion on investigational drugs [Expert Opin Investig Drugs] 2022 May; Vol. 31 (5), pp. 451-461. Date of Electronic Publication: 2022 Apr 11.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Azo Compounds/adverse effects ; Humans ; Infant, Newborn ; Motor Neurons ; Pyrimidines ; RNA Splicing ; Rare Diseases/drug therapy ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe
Tytuł :
Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit.
Autorzy :
Van Alstyne M; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Department of Neurology, Columbia University, New York, NY, USA.
Tattoli I; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Delestrée N; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Department of Neurology, Columbia University, New York, NY, USA.
Recinos Y; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, USA.
Workman E; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Shihabuddin LS; Neuroscience Therapeutic Area, Sanofi, Framingham, MA, USA.
Zhang C; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Systems Biology, Columbia University, New York, NY, USA.; Department of Biochemistry and Molecular Biophysics, Columbia University, New York, NY, USA.
Mentis GZ; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Department of Neurology, Columbia University, New York, NY, USA.
Pellizzoni L; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA. .; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA. .; Department of Neurology, Columbia University, New York, NY, USA. .
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Źródło :
Nature neuroscience [Nat Neurosci] 2021 Jul; Vol. 24 (7), pp. 930-940. Date of Electronic Publication: 2021 Apr 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Nerve Degeneration*/genetics
Nerve Degeneration*/metabolism
Nerve Degeneration*/pathology
Motor Neurons/*metabolism
Motor Neurons/*pathology
Survival of Motor Neuron 1 Protein/*toxicity
Animals ; Dependovirus ; Ganglia, Spinal/metabolism ; Ganglia, Spinal/pathology ; Gene Transfer Techniques ; Genetic Therapy/adverse effects ; Genetic Vectors ; Injections, Intraventricular ; Mice ; Motor Disorders/genetics ; Motor Disorders/metabolism ; Motor Disorders/pathology ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł :
Identification of specific gene methylation patterns during motor neuron differentiation from spinal muscular atrophy patient-derived iPSC.
Autorzy :
Maretina MA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Valetdinova KR; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia.
Tsyganova NA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Egorova AA; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Ovechkina VS; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Novosibirsk State University, 630090 Novosibirsk, Russia.
Schiöth HB; Department of Neuroscience, Functional Pharmacology, Uppsala University, S-75124 Uppsala, Sweden; Sechenov First Moscow State Medical University, 119991 Moscow, Russia.
Zakian SM; The Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, 630090 Novsibirsk, Russia; Meshalkin National Medical Research Center, Ministry of Healthcare of the Russian Federation, 630055 Novosibirsk, Russia.
Baranov VS; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia.
Kiselev AV; D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint-Petersburg, Russia. Electronic address: .
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Źródło :
Gene [Gene] 2022 Feb 15; Vol. 811, pp. 146109. Date of Electronic Publication: 2021 Dec 03.
Typ publikacji :
Journal Article
MeSH Terms :
Induced Pluripotent Stem Cells/*physiology
Motor Neurons/*physiology
Muscular Atrophy, Spinal/*genetics
Cell Differentiation ; Cells, Cultured ; DNA Methylation ; GTPase-Activating Proteins/genetics ; GTPase-Activating Proteins/metabolism ; Gene Expression Regulation, Developmental ; Humans ; Neurogenesis ; PAX6 Transcription Factor/genetics ; PAX6 Transcription Factor/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
Heat increases full-length SMN splicing: promise for splice-augmenting therapies for SMA.
Autorzy :
Dominguez CE; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA.; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Cunningham D; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Venkataramany AS; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.; Biomedical Sciences Graduate Program, The Ohio State University, Columbus, OH, USA.; Medical Scientist Training Program, The Ohio State University, Columbus, OH, USA.
Chandler DS; Molecular, Cellular and Developmental Biology Graduate Program and The Center for RNA Biology, The Ohio State University, Columbus, OH, USA. .; Center for Childhood Cancer and Blood Diseases, The Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. .; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA. .
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Źródło :
Human genetics [Hum Genet] 2022 Feb; Vol. 141 (2), pp. 239-256. Date of Electronic Publication: 2022 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Hot Temperature*/therapeutic use
RNA Splicing*/genetics
Muscular Atrophy, Spinal/*genetics
Muscular Atrophy, Spinal/*therapy
Animals ; Binding Sites/genetics ; Cell Line ; Disease Models, Animal ; Exons ; Heat-Shock Response/genetics ; Humans ; In Vitro Techniques ; MCF-7 Cells ; Mice ; Muscular Atrophy, Spinal/metabolism ; Nerve Tissue Proteins/metabolism ; Oligonucleotides, Antisense/genetics ; Oligonucleotides, Antisense/therapeutic use ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Serine-Arginine Splicing Factors/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics ; Survival of Motor Neuron 2 Protein/metabolism
Czasopismo naukowe
Tytuł :
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Autorzy :
Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
Nishio H; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan.
Niba ETE; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
Shiroshita T; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan.; Sekisui Medical CO., LTD. 1-3, Tokyo, Japan.
Kato M; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan.
Bouike Y; Faculty of Nutrition, Kobe Gakuin University, Kobe, Japan.
Tode C; Instrumental Analysis Center, Kobe Pharmaceutical University, Kobe, Japan.
Ar Rochmah M; Department of Neurology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Harahap NIF; Department of Clinical Pathology and Laboratory Medicine, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Nurputra DK; Department of Pediatrics, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
Okamoto K; Department of Pediatrics, Ehime Prefectural Imabari Hospital, Imabari, Japan.
Saito T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan.
Takeuchi A; Instrumental Analysis Center, Kobe Pharmaceutical University, Kobe, Japan.
Lai PS; Department of Pediatrics, National University of Singapore, Singapore, Singapore.
Yamaguchi S; Department of Pediatrics, Shimane University School of Medicine, Izumo, Japan.
Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan.
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Źródło :
Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2021 Apr; Vol. 25 (4), pp. 293-301.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal/*genetics
Neonatal Screening/*methods
Survival of Motor Neuron 1 Protein/*genetics
Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; DNA/genetics ; Dried Blood Spot Testing/methods ; Exons ; Female ; Gene Deletion ; Gene Frequency ; High-Throughput Screening Assays/methods ; Humans ; Infant, Newborn ; Male ; Muscular Atrophy, Spinal/blood ; Muscular Atrophy, Spinal/diagnosis ; Nucleic Acid Denaturation/genetics ; Real-Time Polymerase Chain Reaction/methods ; Sensitivity and Specificity ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł :
Bioinformatic analysis of SMN1-ACE/ACE2 interactions hinted at a potential protective effect of spinal muscular atrophy against COVID-19-induced lung injury.
Autorzy :
Li Z; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Li X; Department of Orthopedic Surgery, Beijing Jishuitan Hospital, Fourth Clinical College of Peking University, Jishuitan Orthopaedic College of Tsinghua University, Beijing, China.
Shen J; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Tan H; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Rong T; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Lin Y; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Feng E; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Chen Z; Department of Radiology, Dongzhimen Hospital Beijing University of Chinese Medicine. No. 5 Hai Yun Cang, Dongcheng District, Beijing 100700, P.R. China.
Jiao Y; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Liu G; Department of Orthopaedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100042, China.
Zhang L; Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China.
Vai Chan MT; Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China.
Kei Wu WK; Department of Anaesthesia and Intensive Care, The Chinese University of Hong Kong, Hong Kong, China.
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Źródło :
Briefings in bioinformatics [Brief Bioinform] 2021 Mar 22; Vol. 22 (2), pp. 1291-1296.
Typ publikacji :
Journal Article
MeSH Terms :
Angiotensin-Converting Enzyme 2/*metabolism
COVID-19/*metabolism
Muscular Atrophy, Spinal/*complications
Survival of Motor Neuron 1 Protein/*metabolism
COVID-19/virology ; Disease Susceptibility ; Humans ; Muscular Atrophy, Spinal/metabolism ; Muscular Atrophy, Spinal/prevention & control ; Protein Binding ; Protein Interaction Maps ; Renin-Angiotensin System ; SARS-CoV-2/isolation & purification ; Signal Transduction ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł :
Risdiplam in Type 1 Spinal Muscular Atrophy.
Autorzy :
Baranello G; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Darras BT; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Day JW; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Deconinck N; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Klein A; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Masson R; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Mercuri E; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Rose K; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
El-Khairi M; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Gerber M; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Gorni K; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Khwaja O; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Kletzl H; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Scalco RS; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Seabrook T; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Fontoura P; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
Servais L; From the Dubowitz Neuromuscular Centre, National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London, and Great Ormond Street Hospital Trust, London (G.B.), Roche Products, Welwyn Garden City (M.E.-K.), and the Muscular Dystrophy UK Oxford Neuromuscular Centre, Department of Paediatrics, University of Oxford, Oxford (L.S.) - all in the United Kingdom; the Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan (G.B., R.M.), and the Pediatric Neurology Institution, Catholic University and Nemo Pediatrico, Fondazione Policlinico Gemelli IRCCS, Rome (E.M.); the Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston (B.T.D.); the Department of Neurology, Stanford University, Palo Alto, CA (J.W.D.); Centre de Référence des Maladies Neuromusculaires, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels (N.D.), the Neuromuscular Reference Center, Universitair Ziekenhuis Gent, Ghent (N.D.), and the Division of Child Neurology, Centre de Références des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liege and University of Liege, Liege (L.S.) - all in Belgium; the Division of Pediatric Neurology, University Children's Hospital Basel (A.K.), Pharma Development Safety (M.G.), Product Development Medical Affairs-Neuroscience and Rare Disease (K.G., P.F.), and Pharma Development Neurology (R.S.S.), F. Hoffmann-La Roche, and Roche Pharmaceutical Research and Early Development, Roche Innovation Center Basel (O.K., H.K., T.S.), Basel, and Pediatric Neurology, Inselspital, University of Bern, Bern (A.K.) - both in Switzerland; the Discipline of Physiotherapy, Faculty of Medicine and Health, University of Sydney, Sydney (K.R.); and I-Motion, Hôpital Armand Trousseau, Paris (L.S.).
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Corporate Authors :
FIREFISH Working Group
Źródło :
The New England journal of medicine [N Engl J Med] 2021 Mar 11; Vol. 384 (10), pp. 915-923. Date of Electronic Publication: 2021 Feb 24.
Typ publikacji :
Clinical Trial, Phase II; Clinical Trial, Phase III; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Azo Compounds/*administration & dosage
Neuromuscular Agents/*administration & dosage
Pyrimidines/*administration & dosage
Spinal Muscular Atrophies of Childhood/*drug therapy
Survival of Motor Neuron 1 Protein/*blood
Administration, Oral ; Azo Compounds/adverse effects ; Azo Compounds/pharmacokinetics ; Dose-Response Relationship, Drug ; Female ; Humans ; Infant ; Male ; Neuromuscular Agents/adverse effects ; Neuromuscular Agents/pharmacokinetics ; Progression-Free Survival ; Pyrimidines/adverse effects ; Pyrimidines/pharmacokinetics ; RNA Splicing ; Respiratory Insufficiency/etiology ; Respiratory Tract Infections/etiology ; Spinal Muscular Atrophies of Childhood/complications ; Spinal Muscular Atrophies of Childhood/mortality ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł :
Microtubule-associated protein 1B dysregulates microtubule dynamics and neuronal mitochondrial transport in spinal muscular atrophy.
Autorzy :
Bora G; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Hensel N; Institute of Neuroanatomy and Cell Biology, OE 4140, Hannover Medical School, Hannover 30625, Germany.; Center for Systems Neuroscience (ZSN), Hannover, Germany.
Rademacher S; Institute of Neuroanatomy and Cell Biology, OE 4140, Hannover Medical School, Hannover 30625, Germany.
Koyunoğlu D; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Sunguroğlu M; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Aksu-Mengeş E; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Balcı-Hayta B; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
Claus P; Institute of Neuroanatomy and Cell Biology, OE 4140, Hannover Medical School, Hannover 30625, Germany.; Center for Systems Neuroscience (ZSN), Hannover, Germany.
Erdem-Yurter H; Department of Medical Biology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2021 Feb 25; Vol. 29 (24), pp. 3935-3944.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Microtubule-Associated Proteins/*metabolism
Microtubules/*pathology
Motor Neurons/*pathology
Muscular Atrophy, Spinal/*pathology
Peptide Synthases/*metabolism
Survival of Motor Neuron 1 Protein/*metabolism
Animals ; Axonal Transport ; Biological Transport ; Cells, Cultured ; Humans ; Mice ; Mice, Transgenic ; Microtubule-Associated Proteins/genetics ; Microtubules/metabolism ; Mitochondria ; Motor Neurons/metabolism ; Muscular Atrophy, Spinal/etiology ; Muscular Atrophy, Spinal/metabolism ; Peptide Synthases/genetics ; Survival of Motor Neuron 1 Protein/genetics ; Tubulin/metabolism ; Tyrosine/metabolism
Czasopismo naukowe
Tytuł :
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Autorzy :
Niba ETE; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: .
Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Faculty of Medical Rehabilitation, Kobe Gakuin University, Kobe, Japan. Electronic address: .
Wijaya YOS; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: .
Lai PS; Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore. Electronic address: .
Tozawa T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: .
Chiyonobu T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan. Electronic address: .
Yamadera M; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan. Electronic address: .
Okamoto K; Department of Pediatrics, Ehime Prefectural Imabari Hospital, Ehime, Japan. Electronic address: .
Awano H; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: .
Takeshima Y; Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan. Electronic address: .
Saito T; Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, Toyonaka, Japan. Electronic address: .
Shinohara M; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan. Electronic address: .
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Źródło :
Brain & development [Brain Dev] 2021 Feb; Vol. 43 (2), pp. 294-302. Date of Electronic Publication: 2020 Oct 06.
Typ publikacji :
Journal Article
MeSH Terms :
Muscular Atrophy, Spinal/*physiopathology
Survival of Motor Neuron 1 Protein/*genetics
Base Sequence ; Chimera/genetics ; DNA Copy Number Variations/genetics ; Exons/genetics ; Female ; Gene Deletion ; Gene Dosage ; Genotype ; Humans ; Japan/epidemiology ; Male ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy, Spinal/metabolism ; Phenotype ; Polymerase Chain Reaction ; Sequence Deletion ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/genetics
Czasopismo naukowe

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