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Tytuł:
A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review.
Autorzy:
Chen H; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Sun C; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Zheng Y; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Yin J; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Gao M; Department of Pathology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Zhao C; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China.
Lin J; Department of Neurology, Huashan Hospital, Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .; National Center for Neurological Diseases, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .; Huashan Rare Disease Center, Huashan Hospital Fudan University, 12 Middle Wulumuqi Rd, Shanghai, 200040, China. .
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Źródło:
BMC neurology [BMC Neurol] 2023 Jun 30; Vol. 23 (1), pp. 250. Date of Electronic Publication: 2023 Jun 30.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Autoimmune Diseases*
Charcot-Marie-Tooth Disease*/genetics
Connective Tissue Diseases*
Muscular Atrophy, Spinal*/genetics
Humans ; Male ; Muscular Atrophy ; TRPV Cation Channels/genetics ; Middle Aged
SCR Disease Name:
Hereditary Motor And Sensory Neuropathy, Type IIC
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR.
Autorzy:
Yao M; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.; Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jiang L; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Yu Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Cui Y; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Chen Y; Xiamen Biofast Biotechnology Co., Ltd., Xiamen, China.
Zhou D; Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gao F; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China.
Mao S; Department of Neurology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, 310052, China. .
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Źródło:
BMC neurology [BMC Neurol] 2024 Mar 11; Vol. 24 (1), pp. 93. Date of Electronic Publication: 2024 Mar 11.
Typ publikacji:
Journal Article
MeSH Terms:
Multiplex Polymerase Chain Reaction*
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Humans ; DNA Copy Number Variations/genetics ; Workflow ; Motor Neurons ; Exons/genetics ; Survival of Motor Neuron 1 Protein/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Total tau in cerebrospinal fluid detects treatment responders among spinal muscular atrophy types 1-3 patients treated with nusinersen.
Autorzy:
Šimić G; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Vukić V; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Babić M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Banović M; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Berečić I; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Španić E; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Zubčić K; Department of Neuroscience, Croatian Institute for Brain Research, University of Zagreb School of Medicine, Zagreb, Croatia.
Golubić AT; Department of Nuclear Medicine and Radiation Protection, University Hospital Centre Zagreb, Zagreb, Croatia.
Barišić Kutija M; Department of Ophthalmology, University Hospital Centre Zagreb, Zagreb, Croatia.
Merkler Šorgić A; Department of Laboratory Diagnostics, Laboratory for Molecular Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.
Vogrinc Ž; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.
Lehman I; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Hof PR; Nash Family Department of Neuroscience, Friedman Brain Institute, and Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Sertić J; Department of Laboratory Diagnostics, University Hospital Centre Zagreb, Zagreb, Croatia.; Department of Medical Chemistry and Biochemistry, University of Zagreb School of Medicine, Zagreb, Croatia.
Barišić N; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
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Źródło:
CNS neuroscience & therapeutics [CNS Neurosci Ther] 2024 Mar; Vol. 30 (3), pp. e14051. Date of Electronic Publication: 2022 Dec 13.
Typ publikacji:
Journal Article
MeSH Terms:
Spinal Muscular Atrophies of Childhood*/drug therapy
Spinal Muscular Atrophies of Childhood*/cerebrospinal fluid
Muscular Atrophy, Spinal*/cerebrospinal fluid
Muscular Atrophy, Spinal*/drug therapy
Humans ; Child ; Oligonucleotides/therapeutic use ; Biomarkers/cerebrospinal fluid
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinal Irisin Gene Delivery Attenuates Burn Injury-Induced Muscle Atrophy by Promoting Axonal Myelination and Innervation of Neuromuscular Junctions.
Autorzy:
Wu SH; Department of Anesthesiology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung 801, Taiwan.; Department of Anesthesiology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
Lu IC; Department of Anesthesiology, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.; Department of Anesthesiology, Kaohsiung Municipal Siaogang Hospital, Kaohsiung 812, Taiwan.
Yang SM; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.
Hsieh CF; Department of Anesthesiology, Kaohsiung Municipal Ta-Tung Hospital, Kaohsiung 801, Taiwan.
Chai CY; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.; Department of Pathology, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Pathology, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.
Tai MH; Institute of Biomedical Sciences, National Sun Yat-Sun University, Kaohsiung 804, Taiwan.
Huang SH; Department of Surgery, Division of Plastic Surgery, Kaohsiung Medical University Hospital, Kaohsiung 807, Taiwan.; Department of Surgery, School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Regeneration Medicine and Cell Therapy Research Center, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 807, Taiwan.; Department of Surgery, Division of Plastic Surgery, Kaohsiung Municipal Siaogang Hospital, Kaohsiung 812, Taiwan.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Dec 14; Vol. 23 (24). Date of Electronic Publication: 2022 Dec 14.
Typ publikacji:
Journal Article
MeSH Terms:
Burns*/complications
Burns*/therapy
Burns*/pathology
Muscular Atrophy, Spinal*/pathology
Peripheral Nerve Injuries*/pathology
Sciatic Neuropathy*/pathology
Axons/metabolism ; Fibronectins/genetics ; Muscle, Skeletal/metabolism ; Muscular Atrophy/genetics ; Muscular Atrophy/prevention & control ; Neuromuscular Junction/metabolism ; Animals
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy.
Autorzy:
Cattinari MG; Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain. .
de Lemus M; Fundación Atrofia Muscular Espinal España (FundAME), Madrid, Spain.; SMA Europe, Freiburg, Germany.; Committee of Advanced Therapies at the European Medicines Agency, Amsterdam, The Netherlands.
Tizzano E; Department of Clinical and Molecular Genetics and Rare Diseases Unit and Medicine Genetics Group, VHIR, Hospital Valle Hebron, Barcelona, Spain.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 19; Vol. 19 (1), pp. 76. Date of Electronic Publication: 2024 Feb 19.
Typ publikacji:
Journal Article
MeSH Terms:
Disabled Persons*
Motor Disorders*
Muscular Atrophy, Spinal*/diagnosis
Spinal Muscular Atrophies of Childhood*
Child ; Adult ; Humans ; Infant ; Child, Preschool ; Adolescent ; Self Report ; Rare Diseases ; Registries
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Risdiplam therapy in adults with 5q-SMA: observational study on motor function and treatment satisfaction.
Autorzy:
Bjelica B; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany. .
Wohnrade C; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Cespedes I; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Osmanovic A; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.; Essen Center for Rare Diseases (EZSE), University Hospital Essen, Essen, Germany.
Schreiber-Katz O; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
Petri S; Department of Neurology, Hannover Medical School, 1, Carl-Neuberg-Straße, Hannover, 30625, Germany.
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Źródło:
BMC neurology [BMC Neurol] 2024 Feb 17; Vol. 24 (1), pp. 67. Date of Electronic Publication: 2024 Feb 17.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Spinal Muscular Atrophies of Childhood*
Muscular Atrophy, Spinal*
Azo Compounds*
Pyrimidines*
Adult ; Humans ; Adolescent ; Young Adult ; Middle Aged ; Abdominal Pain ; Germany
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Modeling Spinal Muscular Atrophy in Zebrafish: Current Advances and Future Perspectives.
Autorzy:
Gonzalez D; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Vásquez-Doorman C; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Luna A; Departamento de Ciencias Químicas y Biológicas, Facultad de Ciencias de la Salud, Universidad Bernardo O'Higgins, Santiago 8370854, RM, Chile.
Allende ML; Millennium Institute Center for Genome Regulation, Facultad de Ciencias, Universidad de Chile, Santiago 7800003, RM, Chile.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 06; Vol. 25 (4). Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neurodegenerative Diseases*
Muscular Atrophy, Spinal*/therapy
Motor Neuron Disease*
Animals ; Humans ; Zebrafish/genetics ; Motor Neurons ; Survival of Motor Neuron 1 Protein ; Disease Models, Animal
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Troponin T is elevated in a relevant proportion of patients with 5q-associated spinal muscular atrophy.
Autorzy:
Lapp HS; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Freigang M; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Friese J; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany.
Bernsen S; Department of Neurodegenerative Diseases, University Hospital Bonn, Bonn, Germany.
Tüngler V; Department of Neuropediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
von der Hagen M; Department of Neuropediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
Weydt P; Department of Neurodegenerative Diseases, University Hospital Bonn, Bonn, Germany.
Günther R; Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. .; German Center for Neurodegenerative Diseases, Dresden, Germany. .
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Źródło:
Scientific reports [Sci Rep] 2024 Mar 19; Vol. 14 (1), pp. 6634. Date of Electronic Publication: 2024 Mar 19.
Typ publikacji:
Observational Study; Journal Article
MeSH Terms:
Troponin T*/genetics
Muscular Atrophy, Spinal*/diagnosis
Adult ; Humans ; Child ; Retrospective Studies ; Troponin I ; Biomarkers
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Feasibility and utility of in-home body weight support harness system use in young children treated for spinal muscular atrophy: A single-arm prospective cohort study.
Autorzy:
Iammarino MA; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Alfano LN; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
Reash NF; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Sabo B; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Conroy S; Center for Biostatistics, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.; Biostatistics Resource at Nationwide Children's Hospital, Nationwide Children's Hospital, Columbus, Ohio, United States of America.
Noritz G; Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; School of Medicine, The Ohio State University, Columbus, Ohio, United States of America.
Wendland M; Doctor of Physical Therapy Program, Cleveland State University, Cleveland, Ohio, United States of America.
Lowes LP; Center for Gene Therapy, Nationwide Children's Hospital, Columbus, Ohio, United States of America.; Department of Pediatrics, The Ohio State University, Columbus, Ohio, United States of America.
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Źródło:
PloS one [PLoS One] 2024 Mar 19; Vol. 19 (3), pp. e0300244. Date of Electronic Publication: 2024 Mar 19 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/therapy
Spinal Muscular Atrophies of Childhood*/drug therapy
Child ; Humans ; Child, Preschool ; Prospective Studies ; Feasibility Studies ; Exercise ; Body Weight
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Exploration of adverse events associated with risdiplam use: Retrospective cases from the US Food and Drug Administration Adverse Event Reporting System (FAERS) database.
Autorzy:
Yu L; College of Traditional Chinese Medicine of Chongqing Medical University, Chongqing, China.
Liu L; Pharmacy Department of Chongqing YouYou BaoBei Women's and Children's Hospital, Chongqing, China.
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Źródło:
PloS one [PLoS One] 2024 Mar 01; Vol. 19 (3), pp. e0298609. Date of Electronic Publication: 2024 Mar 01 (Print Publication: 2024).
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*
Drug-Related Side Effects and Adverse Reactions*/epidemiology
Pyrimidines*
United States/epidemiology ; Humans ; Retrospective Studies ; United States Food and Drug Administration ; Azo Compounds ; Databases, Factual ; Pharmacovigilance ; Adverse Drug Reaction Reporting Systems
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.
Autorzy:
Bardakov SN; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia. .
Titova AA; Kazan (Volga Region) Federal University, 18 Kremlyevskaya str., Kazan, 420008, Russia.
Nikitin SS; Research Centre for Medical Genetics, 1 Moskvorechye str., Moscow, 115522, Russia.
Nikitins V; North-Western State Medical University named after I.I. Mechnikov, 47 Piskarevskij prospect, St. Petersburg, 191015, Russia.
Sokolova MO; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Tsargush VA; Department of Neurology, S.M. Kirov Military Medical Academy, 6 Lebedeva str., St. Petersburg, 194044, Russia.
Yuhno EA; FSBI All-Russian Center for Emergency and Radiation Medicine named after A.M. Nikiforov EMERCOM of Russia, 4/2 Lebedev str., St. Petersburg, 194044, Russia.
Vetrovoj OV; Pavlov Institute of Physiology, Russian Academy of Sciences, 6 Makarova emb, St. Petersburg, 199034, Russia.
Carlier PG; Neuromuscular Disease Reference Center, University of Liege, and Department of Neurology, St Luc University Hospital, Avenue Hippocrate 10, Brussels, 1200, Belgium.
Sofronova YV; Genetico, 3, Gubkina str., Bldg. 1, Moscow, 119333, Russia.
Isaev АА; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
Deev RV; Avtsyn Research Institute of Human Morphology of Federal State Budgetary Scientific Institution 'Petrovsky National Research Centre of Surgery', 3 Tsyurupy str., Moscow, 117418, Russia.; Artgen Biotech PJSC, 3 Gubkina str., Moscow, 119333, Russia.
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Źródło:
BMC musculoskeletal disorders [BMC Musculoskelet Disord] 2024 Feb 16; Vol. 25 (1), pp. 146. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/complications
Muscular Dystrophies, Limb-Girdle*/diagnostic imaging
Muscular Dystrophies, Limb-Girdle*/genetics
Distal Myopathies*
Contracture*/etiology
Contracture*/genetics
Muscular Atrophy*
Humans ; Adolescent ; Young Adult ; Adult ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Mutation
SCR Disease Name:
Dysferlinopathy; Miyoshi myopathy
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice.
Autorzy:
Meijboom KE; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Gene Therapy Center, UMass Medical School, Worcester, USA.
Sutton ER; School of Medicine, Keele University, Staffordshire, UK.
McCallion E; School of Medicine, Keele University, Staffordshire, UK.
McFall E; Regenerative Medicine Program and Department of Cellular and Molecular Medicine, Ottawa Hospital Research Institute and University of Ottawa, Ottawa, Canada.
Anthony D; Department of Pharmacology, University of Oxford, Oxford, UK.
Edwards B; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Kubinski S; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.
Tapken I; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Bünermann I; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Hazell G; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Ahlskog N; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.
Claus P; Center for Systems Neuroscience and Institute of Neuroanatomy and Cell Biology, Hannover Medical School, Hannover, Germany.; SMATHERIA - Non-Profit Biomedical Research Institute, Hannover, Germany.
Davies KE; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.
Kothary R; Regenerative Medicine Program and Department of Cellular and Molecular Medicine, Ottawa Hospital Research Institute and University of Ottawa, Ottawa, Canada.
Wood MJA; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK.; Department of Paediatrics, University of Oxford, Oxford, UK.
Bowerman M; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford, UK. .; School of Medicine, Keele University, Staffordshire, UK. .; Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, UK. .
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Źródło:
Skeletal muscle [Skelet Muscle] 2022 Jul 28; Vol. 12 (1), pp. 18. Date of Electronic Publication: 2022 Jul 28.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/metabolism
Receptors, Tumor Necrosis Factor*/genetics
Receptors, Tumor Necrosis Factor*/metabolism
Animals ; Cytokine TWEAK ; Disease Models, Animal ; Mice ; Muscle, Skeletal/metabolism ; Muscular Atrophy/metabolism ; RNA, Small Interfering/genetics ; TWEAK Receptor/genetics ; TWEAK Receptor/metabolism ; Transcription Factors/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Carrier screening for spinal muscular atrophy in 22913 Chinese reproductive age women.
Autorzy:
Zhang L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Mo J; Shenzhen Center for Chronic Disease Control, Shenzhen, Guangdong, China.
Zhou L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Xu X; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Xu Z; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Zhang L; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Wu W; Department of Medical Genetics, Affiliated Shenzhen Maternity & Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2359.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/epidemiology
Muscular Atrophy, Spinal*/genetics
Pregnancy ; Humans ; Female ; Prenatal Diagnosis/methods ; Exons ; Real-Time Polymerase Chain Reaction ; China
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Unilateral interlaminar fenestration on the convex side provides a reliable access for intrathecal administration of nusinersen in spinal muscular atrophy: a retrospective study.
Autorzy:
Wang Z; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Feng E; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Jiao Y; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Zhao J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Chen X; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Zhang H; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Liang J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Li Z; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Cui X; Department of Anesthesiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Chen W; Department of Anesthesiology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Shen J; Department of Orthopedics, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, People's Republic of China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 29; Vol. 18 (1), pp. 369. Date of Electronic Publication: 2023 Nov 29.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/drug therapy
Muscular Atrophy, Spinal*/surgery
Spinal Muscular Atrophies of Childhood*
Humans ; Retrospective Studies ; Reproducibility of Results
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Spinal muscular atrophy in Ghanaian children confirmed by molecular genetic testing: a case series.
Autorzy:
Hammond CK; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Oppong E; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Ameyaw E; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
Dogbe JA; Department of Child Health, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.; Department of Child Health, Komfo Anokye Teaching Hospital, Kumasi, Ghana.
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Źródło:
The Pan African medical journal [Pan Afr Med J] 2023 Nov 09; Vol. 46, pp. 78. Date of Electronic Publication: 2023 Nov 09 (Print Publication: 2023).
Typ publikacji:
Case Reports
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Muscular Atrophy, Spinal*/therapy
Spinal Muscular Atrophies of Childhood*/diagnosis
Spinal Muscular Atrophies of Childhood*/genetics
Spinal Muscular Atrophies of Childhood*/therapy
Child ; Infant, Newborn ; Female ; Humans ; Ghana ; Retrospective Studies ; Genetic Testing ; Molecular Biology
Raport
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Tytuł:
Bezafibrate attenuates immobilization-induced muscle atrophy in mice.
Autorzy:
Nakamura S; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Sato Y; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Kobayashi T; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Oya A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Fujie A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Matsumoto M; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Nakamura M; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan.
Kanaji A; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan. .
Miyamoto T; Department of Orthopedic Surgery, Keio University School of Medicine, 35 Shinano-Machi, Shinjuku-Ku, Tokyo, 160-8582, Japan. .; Department of Orthopedic Surgery, Kumamoto University, 1-1-1 Honjo, Chuo-Ku, Kumamoto, 860-8556, Japan. .
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Źródło:
Scientific reports [Sci Rep] 2024 Jan 26; Vol. 14 (1), pp. 2240. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Bezafibrate*/pharmacology
Muscular Atrophy*/drug therapy
Muscular Atrophy*/etiology
Muscular Atrophy*/metabolism
Mice ; Animals ; Muscle, Skeletal/metabolism ; Muscle Fibers, Skeletal/metabolism
Czasopismo naukowe
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Tytuł:
Spinal adhesive arachnoiditis in an adult patient with spinal muscular atrophy type 3 treated with intrathecal therapy.
Autorzy:
Ubysz J; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland.
Koszewicz M; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland. .
Bladowska J; Department of Preclinical Sciences, Pharmacology and Medical Diagnostics, Faculty of Medicine, Wroclaw University of Science and Technology, Wroclaw, Poland.; Department of Radiology, Wroclaw 4th Military Hospital, Wroclaw, Poland.
Budrewicz S; Department of Neurology, Wroclaw Medical University, Borowska 213, Wroclaw, 50-556, Poland.
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Źródło:
BMC neurology [BMC Neurol] 2024 Jan 24; Vol. 24 (1), pp. 43. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Arachnoiditis*/complications
Arachnoiditis*/diagnostic imaging
Arachnoiditis*/drug therapy
Spinal Muscular Atrophies of Childhood*
Muscular Atrophy, Spinal*
Adult ; Female ; Humans ; Inflammation
SCR Disease Name:
Familial spinal arachnoiditis
Czasopismo naukowe
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Tytuł:
Multidisciplinary team meetings in treatment of spinal muscular atrophy adult patients: a real-life observatory for innovative treatments.
Autorzy:
Salort-Campana E; Service de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille University, 264 Rue Saint-Pierre, 13385, Marseille Cedex 05, France. .; Inserm UMR_S 910 Medical Genetics and Functional Genomics, Aix Marseille Université, Marseille, France. .; FILNEMUS, Marseille, France. .
Solé G; Centre de Référence des Maladies Neuromusculaires AOC, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.; FILNEMUS, Marseille, France.
Magot A; Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, Centre de Référence des Maladies Neuromusculaires AOC, CHU de Nantes, Nantes, France.; FILNEMUS, Marseille, France.
Tard C; Centre de Référence des Maladies Neuromusculaires Nord Est Ile de France, Lille, France.; FILNEMUS, Marseille, France.
Noury JB; Reference Centre for Neuromuscular Diseases AOC, University Hospital of Brest, Brest, France.; FILNEMUS, Marseille, France.
Behin A; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.; FILNEMUS, Marseille, France.
De La Cruz E; Centre de Référence des Maladies Neuromusculaires AOC, CHU et Université de Montpellier, Montpellier, France.; UVSQ, Paris-Saclay University, Paris, France.
Boyer F; Pôle de Médecine Physique et de Réadaptation, Hôpital Universitaire Reims-Champagne-Ardenne, CHU Sébastopol, Centre de Référence des Maladies Neuromusculaires Nord Est Ile de France, Reims, France.; FILNEMUS, Marseille, France.
Lefeuvre C; Nord-Est-Ile-de-France, Service de Neurologie, FHU Phenix, Centre de Référence de Pathologie Neuromusculaire, Raymond Poincaré University Hospital, Garches, APHP, Garches, France.; FILNEMUS, Marseille, France.
Masingue M; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.; FILNEMUS, Marseille, France.
Debergé L; Centre de Référence des Maladies Neuromusculaires AOC, Hôpital Pellegrin, CHU de Bordeaux, Bordeaux, France.; FILNEMUS, Marseille, France.
Finet A; Service de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille University, 264 Rue Saint-Pierre, 13385, Marseille Cedex 05, France.; FILNEMUS, Marseille, France.
Brison M; Centre de Réference des Maladies Neuromusculaires PACA Réunion Rhône Alpes Service de Neurologie, CHU de Saint-Etienne, Saint-Étienne, France.; FILNEMUS, Marseille, France.
Spinazzi M; Department of Neurology, Centre Hospitalier Universitaire d'Angers, Angers, France.; FILNEMUS, Marseille, France.
Pegat A; Service de Neurologie C, Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, 69500, Bron, France.; Service d'Explorations Fonctionnelles Neurologiques, Hôpital Neurologique Pierre Wertheimer, 69500, Bron, France.; FILNEMUS, Marseille, France.
Sacconi S; Service Système Nerveux Périphérique & Muscle, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Centre Hospitalier Universitaire de Nice, Université Côte d'Azur, Nice, France.; FILNEMUS, Marseille, France.
Malfatti E; APHP, Centre de Référence de Pathologie Neuromusculaire Nord-Est-Ile-de-France, Henri Mondor Hospital, University Paris-Est, Créteil, France.; FILNEMUS, Marseille, France.
Choumert A; Department of Rare Neurological Diseases, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, CHU de la Réunion, Saint-Pierre, France.; FILNEMUS, Marseille, France.
Bellance R; CeRCa, Site Constitutif de Centre de Référence Caribéen des Maladies Neuromusculaires Rares, CHU de Martinique, Hôpital P. Zobda-Quitman, Fort-de-France, France.; FILNEMUS, Marseille, France.
Bedat-Millet AL; CHU de Rouen, Neurologie, Rouen, France.; FILNEMUS, Marseille, France.
Feasson L; Physiology and Exercise Laboratory EA4338, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Rhône-Alpes Bellevue Hospital, University Hospital Center of Saint-Étienne, Saint-Étienne, France.; FILNEMUS, Marseille, France.
Vuillerot C; Service de Médecine Physique et Réadaptation Pédiatrique, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69677, Bron Cedex, France.; FILNEMUS, Marseille, France.
Jacquin-Piques A; Department of Clinical Neurophysiology, CHU Dijon Bourgogne, Dijon, France.; FILNEMUS, Marseille, France.
Michaud M; Department of Neurology, Nancy University Hospital, Nancy, France.; FILNEMUS, Marseille, France.
Pereon Y; Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, Centre de Référence des Maladies Neuromusculaires AOC, CHU de Nantes, Nantes, France.; FILNEMUS, Marseille, France.
Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Île-de-France, Institut de Myologie, Hôpital Pitié-Salpêtrière, AP-HP, Paris, France.; FILNEMUS, Marseille, France.
Laforêt P; Nord-Est-Ile-de-France, Service de Neurologie, FHU Phenix, Centre de Référence de Pathologie Neuromusculaire, Raymond Poincaré University Hospital, Garches, APHP, Garches, France.; UVSQ, Paris-Saclay University, Paris, France.; FILNEMUS, Marseille, France.
Attarian S; Service de Neurologie du Pr Attarian, Centre de Référence des Maladies Neuromusculaires PACA Réunion Rhône Alpes, Timone University Hospital, Aix-Marseille University, 264 Rue Saint-Pierre, 13385, Marseille Cedex 05, France.; Inserm UMR_S 910 Medical Genetics and Functional Genomics, Aix Marseille Université, Marseille, France.; FILNEMUS, Marseille, France.
Cintas P; Service de Neurologie, CHU de Toulouse Purpan, Place du Docteur Baylac TSA 40031, 8. Centre de Référence des Maladies Neuromusculaires AOC, 31059, Toulouse Cedex 9, France.; FILNEMUS, Marseille, France.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 24; Vol. 19 (1), pp. 24. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/therapy
Spinal Muscular Atrophies of Childhood*
Pyrimidines*
Adult ; Child ; Humans ; Azo Compounds ; Patient Care Team
Czasopismo naukowe
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Tytuł:
Functional analysis of a novel splice site variant in the ASAH1 gene.
Autorzy:
Yan S; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Fu F; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Zhou H; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Huang R; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Wang Y; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
Liao C; Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2317. Date of Electronic Publication: 2023 Nov 14.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/genetics
Female ; Pregnancy ; Humans ; DNA Copy Number Variations ; Hydrops Fetalis/genetics ; Mutation ; Introns ; Acid Ceramidase/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A new line method; A direct test in spinal muscular atrophy screening for DBS.
Autorzy:
Kubar A; SNP Biotechnology Ltd., Ankara, Turkey.
Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.; Department of Translational Medicine, Institute of Health Sciences, Bursa Uludag University, Bursa, Turkey.
Beken S; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Onder G; Department of Biochemistry and Molecular Biology, Institute of of Health Sciences, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Hatirnaz O; Department of Basic Sciences, Medical Biology, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Korkmaz A; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Alanay Y; Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Ozbek U; Department of Medical Sciences, Medical Genetics, School of Medicine, Acibadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey.
Ergoren MC; Near East University, Nicosia, Cyprus.
Kubar E; Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.
Sonmezalp CZ; SNP Biotechnology Ltd., Ankara, Turkey.
Doğan O; SNP Biotechnology Ltd., Ankara, Turkey.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2270. Date of Electronic Publication: 2023 Aug 23.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*/diagnosis
Muscular Atrophy, Spinal*/genetics
Nucleic Acids*
Infant, Newborn ; Humans ; Homozygote ; Sequence Deletion ; Real-Time Polymerase Chain Reaction/methods
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 23939

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