Results 241 to 250 of about 70,643 (278)

Detrimental Effects of Space Flight on the Lumbar Spine May Be Correlated to Baseline Degeneration: Insights From an Advanced MR Imaging Study. [PDF]

J Pain Res
Bokhari R, Bisson DG, Fortin M, Vigouroux M, Cata JP, Hwang KP, Chen MM, Ceniza-Bordallo G, Ouellet JA, Ingelmo PM.   +9 more
europepmc   +1 more source

Measuring what really matters: Why developing patient‐reported outcome measures in Duchenne muscular dystrophy should involve patients and caregivers

Developmental Medicine &Child Neurology, Volume 67, Issue 7, Page 832-833, July 2025.
Sebastian Friedrich, Gudrun Reeskau, Joachim Sproß, Thorsten Langer   +3 more
wiley   +1 more source

Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III. [PDF]

Diagnostics (Basel)
Iketani K, Awano H, Hashimura H, Sonehara S, Hanafusa H, Nambu Y, Nishio H, Nozu K, Bo R.   +8 more
europepmc   +1 more source

Spinal muscular atrophy type 1 in the Caribbean: the first case report from the Dominican Republic. [PDF]

Front Neurosci
Martín-Sanz MB, Lucas-Muñoz D, Colomé-Hidalgo M.   +2 more
europepmc   +1 more source

Embracing the future: Neonatal screening for epileptic syndromes

Epilepsia, EarlyView.
Rima Nabbout, Mathieu Kuchenbuch
wiley   +1 more source

Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study. [PDF]

Orphanet J Rare Dis
Li J, Tang S, Li J, Huang X, Liu Y, Zeng J, Fan Y.   +6 more
europepmc   +1 more source

Diagnostic pathology of equine intracranial neoplasms

Equine Veterinary Education, EarlyView.
H. G. Miller, A. Suarez‐Bonnet
wiley   +1 more source

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Spinal Muscular Atrophy

Current Neurology and Neuroscience Reports, 2004
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Stephen A. Smith, Susan T. Iannaccone, Louise R. Simard   +2 more
  +9 more sources

Spinal muscular atrophy

Journal of Paediatrics and Child Health, 2018
Autosomal-recessive proximal spinal muscular atrophy (Werdnig-Hoffmann, Kugelberg-Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with the number of copies of a nearly identical gene, SMN2. The SMN protein plays a critical role in spliceosome assembly and may have other cellular functions, such as mRNA transport ...
Kenneth H. Fischbeck, Eveline S. Arnold
  +8 more sources