Results 91 to 100 of about 45,526 (300)
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 +10 more
wiley +1 more source
International Journal of Clinical and Experimental Physiology, 2016 Spinal muscular atrophy (SMA) is a genetic motor neuron disease characterized by progressive degeneration of motor neurons. Herein, a 12-year-old female child, born to healthy nonconsanguineous parents, was brought with the chief complaints of wasting and weakness of both lower limbs for 3 years. There was no family history of neurological illness.
LS Dashora +4 more
openaire +2 more sources
Happy 75th National Institute of Neurological Disorders and Stroke
Annals of Neurology, EarlyView.For 75 years the National Institute of Neurological Disorders and Stroke has led neurological research in the US. Many thousands of people have volunteered in research and thousands of investigators devoted their careers to pursuing better treatments of neurological disorders.
Walter J. Koroshetz
wiley +1 more source
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 +3 more
wiley +1 more source
Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. [PDF]
, 1978 John Pearn
openalex +1 more source
Exosomes in Intervertebral Disc Regeneration: Roles, Opportunities, and Challenges
Advanced NanoBiomed Research, EarlyView.Factors of Intervertebral Disc Degeneration Extracellular Matrix (ECM) Exosomes and Intervertebral Disc Degeneration (IVDD) Exosome‐Mediated Therapy for IVDD of Different Cell Sources Application of Engineered Exosomes in IVDD Clinical Application of Exosomes in IVDD Treatment Conclusion and Future Perspectives. Intervertebral disc degeneration (IVDD),
Xianglong Zhou +7 more
wiley +1 more source
Distal chronic spinal muscular atrophy involving the hands. [PDF]
, 1978 D J O'Sullivan, J. G. McLeod
openalex +1 more source
Genetic studies of acute infantile spinal muscular atrophy (SMA type I). An analysis of sex ratios, segregation ratios, and sex influence. [PDF]
, 1978 John Pearn
openalex +1 more source
Segregation analysis of chronic childhood spinal muscular atrophy. [PDF]
, 1978 John Pearn
openalex +1 more source