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


Tytuł:
Base editing rescue of spinal muscular atrophy in cells and in mice.
Autorzy:
Arbab M; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA.; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Matuszek Z; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.
Kray KM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Du A; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Newby GA; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Blatnik AJ; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Raguram A; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Richter MF; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Zhao KT; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Levy JM; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.
Shen MW; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Computational and Systems Biology Program, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.
Arnold WD; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.; NextGen Precision Health, University of Missouri, Columbia, MO 65212, USA.
Wang D; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.; RNA Therapeutics Institute, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Xie J; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Gao G; Horae Gene Therapy Center, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.; Microbiology and Physiological Systems, UMass Chan Medical School, University of Massachusetts, Worcester, MA 01605, USA.
Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH 43210, USA.
Liu DR; Merkin Institute of Transformative Technologies in Healthcare, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Chemistry and Chemical Biology, Harvard University, Cambridge, MA 02138, USA.; Howard Hughes Medical Institute, Harvard University, Cambridge, MA 02138, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2023 Apr 21; Vol. 380 (6642), pp. eadg6518. Date of Electronic Publication: 2023 Apr 14.
Typ publikacji:
Journal Article
MeSH Terms:
Gene Editing*
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 2 Protein*/genetics
Animals ; Mice ; Fibroblasts/metabolism ; Motor Neurons/metabolism
Czasopismo naukowe
Tytuł:
SMN promotes mitochondrial metabolic maturation during myogenesis by regulating the MYOD-miRNA axis.
Autorzy:
Ikenaka A; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
Kitagawa Y; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
Yoshida M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Lin CY; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.; Department of Biomedical Science and Environmental Biology, Kaohsiung Medical University, Kaohsiung, Taiwan.
Niwa A; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
Nakahata T; Drug Discovery Technology Development Office, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.
Saito MK; Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan .
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Źródło:
Life science alliance [Life Sci Alliance] 2023 Jan 05; Vol. 6 (3). Date of Electronic Publication: 2023 Jan 05 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Induced Pluripotent Stem Cells*
MicroRNAs*/genetics
MicroRNAs*/metabolism
Muscular Atrophy, Spinal*/genetics
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
Animals ; Humans ; Mice ; Mitochondria/metabolism ; Muscle Development/genetics ; Muscle, Skeletal/metabolism
Czasopismo naukowe
Tytuł:
The TUDOR domain of SMN is an H3K79 histone mark reader.
Autorzy:
Binda O; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle (INMG-PGNM), Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France .; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ontario, Canada.
Kimenyi Ishimwe AB; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle (INMG-PGNM), Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Galloy M; Université Laval Cancer Research Center, Université Laval, Québec, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Université Laval, Québec, Canada; and Oncology Division, Centre Hospitalier Universitaire (CHU) de Québec-Université Laval Research Center, Québec, Canada.
Jacquet K; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle (INMG-PGNM), Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Corpet A; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle (INMG-PGNM), Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Fradet-Turcotte A; Université Laval Cancer Research Center, Université Laval, Québec, Canada; Department of Molecular Biology, Medical Biochemistry and Pathology, Université Laval, Québec, Canada; and Oncology Division, Centre Hospitalier Universitaire (CHU) de Québec-Université Laval Research Center, Québec, Canada.
Côté J; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ontario, Canada.
Lomonte P; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle (INMG-PGNM), Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France .
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Źródło:
Life science alliance [Life Sci Alliance] 2023 Mar 07; Vol. 6 (6). Date of Electronic Publication: 2023 Mar 07 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Histone Code*
Muscular Atrophy, Spinal*/genetics
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Infant ; Arginine ; Lysine ; RNA Polymerase II ; Transcription Factors
Czasopismo naukowe
Tytuł:
Screening and prenatal diagnosis of survival motor neuron gene deletion in pregnant women in Zhaoqing city, Guangdong Province.
Autorzy:
Huang Z; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China. .; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China. .; Clinical Laboratory, The Second People's Hospital of Zhaoqing, No. 2, Jiansheer Street, 526000, Zhaoqing City, Guangdong province, The People's Republic of China. .
Yang Q; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Ye J; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Huang J; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Lin J; Obstetrical Department, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Chen J; Prenatal Diagnosis Center, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Liang Z; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
Cao Z; Clinical Laboratory, The Second People's Hospital of Zhaoqing, Zhaoqing, The People's Republic of China.
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Mar 01; Vol. 16 (1), pp. 39. Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Deletion*
Prenatal Diagnosis*
Muscular Atrophy, Spinal*/diagnosis
Survival of Motor Neuron 1 Protein*/genetics
Female ; Humans ; Pregnancy ; China ; Motor Neurons ; Pregnant Women
Czasopismo naukowe
Tytuł:
SMA-linked SMN mutants prevent phase separation properties and SMN interactions with FMRP family members.
Autorzy:
Binda O; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France .; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ottawa, Canada.
Juillard F; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Ducassou JN; Université Grenoble Alpes, INSERM, CEA, UMR BioSanté U1292, CNRS, CEA, FR2048, Grenoble, France.
Kleijwegt C; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.; Université de Montpellier, CNRS UMR 9002, Institut de Génétique Humaine, Montpellier, France.
Paris G; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ottawa, Canada.
Didillon A; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ottawa, Canada.
Baklouti F; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Corpet A; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France.
Couté Y; Université Grenoble Alpes, INSERM, CEA, UMR BioSanté U1292, CNRS, CEA, FR2048, Grenoble, France.
Côté J; University of Ottawa, Faculty of Medicine, Department of Cellular and Molecular Medicine, Ottawa, Canada.
Lomonte P; Université Claude Bernard Lyon 1, CNRS UMR 5261, INSERM U1315, LabEx DEV2CAN, Institut NeuroMyoGène-Pathophysiology and Genetics of Neuron and Muscle, Team Chromatin Dynamics, Nuclear Domains, Virus, Lyon, France .
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Źródło:
Life science alliance [Life Sci Alliance] 2022 Nov 14; Vol. 6 (1). Date of Electronic Publication: 2022 Nov 14 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Survival of Motor Neuron 1 Protein*/genetics
Humans ; Infant ; Motor Neurons/metabolism ; Proteomics ; RNA/metabolism
Czasopismo naukowe
Tytuł:
Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α-XBP1 pathway.
Autorzy:
D'Amico D; Université Paris cité and Inserm UMR_S1124, Paris, France.
Biondi O; Université Paris cité and Inserm UMR_S1124, Paris, France.
Januel C; Université d'Evry-Val-d'Essonne and Inserm UMR 861, I-STEM, AFM, Corbeil-Essonne, France.
Bezier C; Université Paris cité and Inserm UMR_S1124, Paris, France.; Biophytis, Sorbonne Université, Paris, France.
Sapaly D; Université Paris cité and Inserm UMR_S1124, Paris, France.
Clerc Z; Université Paris cité and Inserm UMR_S1124, Paris, France.
El Khoury M; Université Paris cité and Inserm UMR_S1124, Paris, France.
Sundaram VK; Université Paris cité and Inserm UMR_S1124, Paris, France.
Houdebine L; Université Paris cité and Inserm UMR_S1124, Paris, France.
Josse T; Université de Tour and CNRS UMR 7261, Institut de Recherche sur la Biologie de l'Insecte, Tours, France.
Della Gaspera B; Université Paris cité and Inserm UMR_S1124, Paris, France.
Martinat C; Université d'Evry-Val-d'Essonne and Inserm UMR 861, I-STEM, AFM, Corbeil-Essonne, France.
Massaad C; Université Paris cité and Inserm UMR_S1124, Paris, France.
Weill L; Université Paris cité and Inserm UMR_S1124, Paris, France.
Charbonnier F; Université Paris cité and Inserm UMR_S1124, Paris, France.
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Źródło:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2022 Aug; Vol. 48 (5), pp. e12816. Date of Electronic Publication: 2022 Mar 30.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Activating Transcription Factor 6*/genetics
Activating Transcription Factor 6*/metabolism
Endoribonucleases*/genetics
Endoribonucleases*/metabolism
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
Protein Serine-Threonine Kinases*/genetics
Protein Serine-Threonine Kinases*/metabolism
Survival of Motor Neuron 1 Protein*/genetics
Survival of Motor Neuron 1 Protein*/metabolism
X-Box Binding Protein 1*/genetics
X-Box Binding Protein 1*/metabolism
Animals ; Cell Line ; Disease Models, Animal ; Humans ; Mice ; Motor Neurons/pathology
Czasopismo naukowe
Tytuł:
Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Autorzy:
Dai M; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.; National Research Center for Translational Medicine, National Key Scientific Infrastructure for Translational Medicine (Shanghai), Shanghai Jiaotong University, Shanghai, China.; National Clinical Research Centre for Metabolic Diseases, State Key Laboratory of Medical Genomics, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Xu Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Sun Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Xiao B; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Ying X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Liu Y; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Jiang W; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Zhang J; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Liu X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
Ji X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. .; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China. .
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2022 Jul; Vol. 297 (4), pp. 1039-1048. Date of Electronic Publication: 2022 May 25.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
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
Alternative Splicing/genetics ; Exons/genetics ; Humans ; Introns/genetics ; Leukocytes, Mononuclear/metabolism ; Sequence Analysis, RNA/methods
Czasopismo naukowe
Tytuł:
Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy.
Autorzy:
Cottam NC; Department of Biological Sciences, Delaware State University, Dover, Delaware, USA.
Bamfo T; Department of Biological Sciences, Delaware State University, Dover, Delaware, USA.
Harrington MA; Delaware Center for Neuroscience Research, Delaware State University, Dover, Delaware, USA.
Charvet CJ; Delaware Center for Neuroscience Research, Delaware State University, Dover, Delaware, USA.; Department of Anatomy, Physiology and Pharmacology, Auburn University, Auburn, Alabama, USA.; Department of Psychology, Delaware State University, Dover, DE, United States.
Hekmatyar K; Center for Biomedical and Brain Imaging, University of Delaware, Newark, Delaware, USA.; Bioimaging Research Center for Biomedical and Brain Imaging, University of Georgia, Athens, Georgia, USA.
Tulin N; Department of Neuroscience, Temple University, Philadelphia, Pennsylvania, USA.
Sun J; Department of Biological Sciences, Delaware State University, Dover, Delaware, USA.; Delaware Center for Neuroscience Research, Delaware State University, Dover, Delaware, USA.
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Źródło:
Brain pathology (Zurich, Switzerland) [Brain Pathol] 2023 Sep; Vol. 33 (5), pp. e13162. Date of Electronic Publication: 2023 May 22.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Astrocytes*/pathology
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/pathology
Mice ; Animals ; Motor Neurons/pathology ; Cerebellum/pathology ; Disease Models, Animal ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Evaluating the performance of four assays for carrier screening of spinal muscular atrophy.
Autorzy:
Tan J; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Zhang J; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Sun R; Department of Laboratory Medicine, The First School of Clinical Medicine, Nanjing Medical University, Nanjing 210029, People's Republic of China.
Jiang Z; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Wang Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Ma D; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Jiao J; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Chen H; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Lin Y; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Zhang Q; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China.
Xu Z; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China. Electronic address: .
Hu P; Department of Prenatal Diagnosis, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing 210004, People's Republic of China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2023 Aug 01; Vol. 548, pp. 117496. Date of Electronic Publication: 2023 Jul 20.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; Homozygote ; Sequence Deletion ; Polymerase Chain Reaction/methods ; Exons ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Autorzy:
Kimizu T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan. Electronic address: .
Ida S; Department of Laboratory Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
Oki K; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Shima M; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Nishimoto S; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Nakajima K; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Ikeda T; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Mogami Y; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Yanagihara K; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
Matsuda K; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Nozaki M; Department of Neonatal Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
Fujita H; Department of Laboratory Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
Irie A; Department of Laboratory Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
Katayama T; Department of Laboratory Medicine, Osaka Women's and Children's Hospital, Izumi, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan.
Imai K; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
Nishio H; Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine, Kobe, Japan; Department of Occupational Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe, Japan.
Suzuki Y; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Japan.
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Źródło:
Brain & development [Brain Dev] 2023 Aug; Vol. 45 (7), pp. 363-371. Date of Electronic Publication: 2023 Mar 25.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Neonatal Screening*/methods
Humans ; Infant, Newborn ; East Asian People ; Pilot Projects ; Prospective Studies ; Survival of Motor Neuron 1 Protein/genetics ; Japan
Czasopismo naukowe
Tytuł:
The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers.
Autorzy:
Davidson JE; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.
Russell JS; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Martinez NN; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Mowat DR; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.
Jones KJ; Department of Clinical Genetics, The Children's Hospital at Westmead, and Discipline of Paediatrics and Child Health, University of Sydney, Sydney, NSW 2006, Australia.
Kirk EP; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, Sydney, NSW 2031, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
Kariyawasam D; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
Farrar M; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
D'Silva A; Department of Neurology, Sydney Children's Hospitals Network, Sydney, NSW 2031, Australia.; Discipline of Paediatrics and Child Health, School of Clinical Medicine, University of New South Wales Sydney, Sydney, NSW 2052, Australia.
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Źródło:
Genes [Genes (Basel)] 2023 Jul 06; Vol. 14 (7). Date of Electronic Publication: 2023 Jul 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/diagnosis
Child ; Humans ; Australia ; Exons/genetics ; Parents ; Retrospective Studies ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR.
Autorzy:
Gao S; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Wu D; School of Microelectronics of Fudan University, Shanghai, China.
Liu S; Clinical Laboratory of the First Affiliated Hospital of Zheng University, Zhengzhou, China.
Shen Y; Shanghai Turtle Technology Co., Ltd., Shanghai, China.
Zhao Z; Shanghai Turtle Technology Co., Ltd., Shanghai, China.
Wang Y; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Kong X; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
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Źródło:
Clinical genetics [Clin Genet] 2023 Jul; Vol. 104 (1), pp. 90-99. Date of Electronic Publication: 2023 Apr 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; Male ; Genetic Carrier Screening/methods ; Polymerase Chain Reaction/methods ; Nucleic Acid Amplification Techniques ; Genotype ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Generation of two induced pluripotent stem cell lines from spinal muscular atrophy type 1 patients carrying no functional copies of SMN1 gene.
Autorzy:
Zeng W; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
Kong X; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
Alamana C; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
Liu Y; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA.
Guzman J; Department of Neurology, Stanford University, Stanford, CA 94305, USA.
Pang PD; Greenstone Biosciences, Palo Alto, CA 94304, USA.
Day JW; Department of Neurology, Stanford University, Stanford, CA 94305, USA.
Wu JC; Stanford Cardiovascular Institute, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Division of Cardiology, Stanford University, Stanford, CA 94305, USA; Greenstone Biosciences, Palo Alto, CA 94304, USA. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2023 Jun; Vol. 69, pp. 103095. Date of Electronic Publication: 2023 Apr 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Induced Pluripotent Stem Cells*/metabolism
Muscular Atrophy, Spinal*/genetics
Humans ; Cell Line ; Homozygote ; Motor Neurons/metabolism ; Mutation ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł:
An Hspa8 variant is a shocking modifier of spinal muscular atrophy in mice.
Autorzy:
Blatnik AJ 3rd; Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: .
Macleod Burghes AH; Department of Biological Chemistry & Pharmacology, Wexner Medical Center, The Ohio State University, Columbus, OH 43210, USA. Electronic address: burghes.1@osu.edu.
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Źródło:
Neuron [Neuron] 2023 May 03; Vol. 111 (9), pp. 1349-1350.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Animals ; Mice ; Disease Models, Animal ; Neurons/metabolism ; Phenotype ; RNA Splicing ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł:
A spinal muscular atrophy modifier implicates the SMN protein in SNARE complex assembly at neuromuscular synapses.
Autorzy:
Kim JK; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Jha NN; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Awano T; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Caine C; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Gollapalli K; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Welby E; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Kim SS; Department of Obstetrics and Gynecology, New York, NY, USA.
Fuentes-Moliz A; Department of Medical Physiology and Biophysics, University of Seville School of Medicine, 41009, Seville, Spain.
Wang X; Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH 45435, USA.
Feng Z; Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Sera F; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
Takeda T; Department of Neurology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA.
Homma S; Department of Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.
Ko CP; Department of Biological Sciences, University of Southern California, Los Angeles, CA 90089, USA.
Tabares L; Department of Medical Physiology and Biophysics, University of Seville School of Medicine, 41009, Seville, Spain.
Ebert AD; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA.
Rich MM; Department of Neuroscience, Cell Biology and Physiology, Wright State University, Dayton, OH 45435, USA.
Monani UR; Department of Neurology, New York, NY, USA; Department of Pathology & Cell Biology, New York, NY, USA; Center for Motor Neuron Biology & Disease, New York, NY, USA; Colleen Giblin Research Laboratory, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: .
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Źródło:
Neuron [Neuron] 2023 May 03; Vol. 111 (9), pp. 1423-1439.e4. Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Muscular Atrophy, Spinal*/pathology
Animals ; Mice ; Disease Models, Animal ; Motor Neurons/metabolism ; SNARE Proteins/genetics ; SNARE Proteins/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Synapses/metabolism ; Synaptic Transmission ; Transcription Factors/metabolism
Czasopismo naukowe
Tytuł:
Diminished motor neuron activity driven by abnormal astrocytic EAAT1 glutamate transporter activity in spinal muscular atrophy is not fully restored after lentiviral SMN delivery.
Autorzy:
Welby E; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Ebert AD; Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
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Źródło:
Glia [Glia] 2023 May; Vol. 71 (5), pp. 1311-1332. Date of Electronic Publication: 2023 Jan 18.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Astrocytes*/metabolism
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Humans ; Animals ; Glutamic Acid/metabolism ; Motor Neurons/metabolism ; Transcription Factors/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Disease Models, Animal
Czasopismo naukowe
Tytuł:
Nifedipine Ameliorates Cellular Differentiation Defects of Smn-Deficient Motor Neurons and Enhances Neuromuscular Transmission in SMA Mice.
Autorzy:
Tejero R; Department of Medical Physiology and Biophysics, School of Medicine, University of Seville, 41009 Seville, Spain.
Alsakkal M; Institute of Clinical Neurobiology, University Hospital Würzburg, 97078 Würzburg, Germany.
Hennlein L; Institute of Clinical Neurobiology, University Hospital Würzburg, 97078 Würzburg, Germany.
Lopez-Cabello AM; Department of Medical Physiology and Biophysics, School of Medicine, University of Seville, 41009 Seville, Spain.
Jablonka S; Institute of Clinical Neurobiology, University Hospital Würzburg, 97078 Würzburg, Germany.
Tabares L; Department of Medical Physiology and Biophysics, School of Medicine, University of Seville, 41009 Seville, Spain.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 21; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 21.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Nifedipine*/pharmacology
Animals ; Mice ; Cell Differentiation ; Disease Models, Animal ; Motor Neurons/metabolism ; Survival of Motor Neuron 1 Protein/genetics ; Survival of Motor Neuron 1 Protein/metabolism ; Synaptic Transmission
Czasopismo naukowe
Tytuł:
Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy.
Autorzy:
Lumpkin CJ; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.; Department of Biological Sciences, University of Delaware, Newark, DE, USA.
Harris AW; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.
Connell AJ; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.
Kirk RW; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.
Whiting JA; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA.
Saieva L; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Pellizzoni L; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Department of Neurology, Columbia University, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University, New York, NY, USA.
Burghes AHM; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.; Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.
Butchbach MER; Division of Neurology, Nemours Children's Hospital Delaware, 4462 E400 DuPont Experimental Station, 200 Powder Mill Road, Wilmington, DE, 19803, USA. .; Department of Biological Sciences, University of Delaware, Newark, DE, USA. .; Department of Biological Chemistry and Pharmacology, The Ohio State University Wexner Medical Center, Columbus, OH, USA. .; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA. .
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Źródło:
Scientific reports [Sci Rep] 2023 Jun 26; Vol. 13 (1), pp. 10374. Date of Electronic Publication: 2023 Jun 26.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Proto-Oncogene Proteins c-akt*/metabolism
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Mice ; Animals ; Motor Neurons/metabolism ; Histone Deacetylase Inhibitors/pharmacology ; Histone Deacetylase Inhibitors/therapeutic use ; Histone Deacetylase Inhibitors/metabolism ; Disease Models, Animal ; Survival of Motor Neuron 1 Protein/metabolism
Czasopismo naukowe
Tytuł:
Splicing activates transcription from weak promoters upstream of alternative exons.
Autorzy:
Uriostegui-Arcos M; Biology Department, Boston University, Boston, 02215, USA.
Mick ST; Biology Department, Boston University, Boston, 02215, USA.
Shi Z; Biology Department, Massachusetts Institute of Technology, Cambridge, 02139, USA.
Rahman R; Biology Department, Boston University, Boston, 02215, USA.
Fiszbein A; Biology Department, Boston University, Boston, 02215, USA. .
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Źródło:
Nature communications [Nat Commun] 2023 Jun 10; Vol. 14 (1), pp. 3435. Date of Electronic Publication: 2023 Jun 10.
Typ publikacji:
Journal Article
MeSH Terms:
RNA Splicing*
Muscular Atrophy, Spinal*/metabolism
Humans ; Alternative Splicing/genetics ; Exons/genetics ; Promoter Regions, Genetic/genetics ; Cell Line ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Tytuł:
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function.
Autorzy:
Pashin KP; School of Humanities and Sciences, Stanford University, Stanford, CA, USA.
Sekhar TC; Division of Pulmonary and Critical Care Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. Electronic address: .
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Źródło:
Brain & development [Brain Dev] 2023 Jun; Vol. 45 (6), pp. 360-361. Date of Electronic Publication: 2023 Mar 30.
Typ publikacji:
Letter
MeSH Terms:
Neurodegenerative Diseases*/drug therapy
Muscular Atrophy, Spinal*/drug therapy
Humans ; Oligonucleotides/therapeutic use ; Survival of Motor Neuron 1 Protein
Opinia redakcyjna

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