Results 211 to 220 of about 9,662,184 (369)

TARDBP (TDP‐43) Knock‐in Zebrafish Display a Late‐Onset Motor Phenotype and Loss of Large Spinal Cord Motor Neurons

Annals of Neurology, EarlyView.
Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji, Christian J. Rampal, Esteban C. Rodríguez, Virginie Petel Légaré, Alexandra Lissouba, Sabrina Semmler, Meijiang Liao, Jay P. Ross, Guy A. Rouleau, Christine Vande Velde, Gary A.B. Armstrong   +10 more
wiley   +1 more source

Role of Polysomnography in Tracheostomy Decannulation in Neuromuscular Disease: A Case Report. [PDF]

Cureus
Pereira P, Vieira AL, Tizón S.
europepmc   +1 more source

Assessment of Parental Needs and Quality of Life in Children with a Rare Neuromuscular Disease (Pompe Disease): A Quantitative-Qualitative Study. [PDF]

Behav Sci (Basel), 2023
Benedetto L, Musumeci O, Giordano A, Porcino M, Ingrassia M.   +4 more
europepmc   +1 more source

Metabolic Syndrome in Ambulatory People With Post–Polio Syndrome, Charcot-Marie-Tooth Disease, and Other Neuromuscular Diseases

Eric L. Voorn, Sander Oorschot, Nicolette Wierdsma, Maarten R. Soeters, Fieke Sophia Koopman, Annerieke C. van Groenestijn   +5 more
openalex   +1 more source

Intravenous immunoglobulin for neuromuscular disease: costs, benefits and reimbursement [PDF]

, 2009
John W. Griffin, Richard AC Hughes
openalex   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

Neuromuscular Diseases [PDF]

Journal of Clinical Pathology, 1982
openaire   +3 more sources

P1112: TREATING BING-NEEL SYNDROME USING A TAILORED APPROACH: EXPERIENCE OF A SPECIALIST NEUROHAEMATOLOGY CLINIC

HemaSphere, 2022
J. Khwaja, D. Smyth, A. Rismani, C. Hoskote, C. Kyriakou, M. P. Lunn, S. D’Sa   +6 more
doaj   +1 more source

A novel mutation in FDX2 provides insights into the pathogenesis of MEOAL mitochondrial neuromuscular disease. [PDF]

Cell Death Dis
Doni D, Grifagni D, Cavion F, Buchignani B, Battini R, Baschiera E, Desbats MA, Pasquariello R, Covello G, De Pascale E, Boarolo A, Cestonaro I, Badocco D, Pastore P, Sartori G, Stehling O, Lill R, Santorelli FM, Salviati L, Ciofi-Baffoni S, Costantini P.   +20 more
europepmc   +1 more source

Resilience to Endoplasmic Reticulum Stress Mitigates Membrane Hyperexcitability Underlying Late Disease Onset in a Murine Model of SCA6

Annals of Neurology, EarlyView.
Objective An enduring puzzle in many inherited neurological disorders is the late onset of symptoms despite expression of function‐impairing mutant protein early in life. We examined the basis for onset of impairment in spinocerebellar ataxia type 6 (SCA6), a canonical late‐onset neurodegenerative ataxia which results from a polyglutamine expansion in ...
Haoran Huang, Taylor L. Charron, Min Fu, Miranda Dunn, Deborah M. Jones, Praveen Kumar, Satoshi Ishishita, Allan‐Hermann Pool, Ashwinikumar Kulkarni, Genevieve Konopka, Vikram G. Shakkottai   +10 more
wiley   +1 more source