Results 131 to 140 of about 35,422 (230)

Scoliosis: Congenital, Neuromuscular, Syndromic, and Other Nonidiopathic Types, Understanding and managing the condition: A practical guide for familiesBy Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Lily Collison, and Cheryl Tveit Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2025, £45.00 (paperback), £10.00 (eBook), pp. 316, ISBN: 9781952181214

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 295-296, February 2026.
Brian Snyder
wiley   +1 more source

Evidence of early defects in Cajal-Retzius cell localization during brain development in a mouse model of dystroglycanopathy. [PDF]

, 2017
Ackroyd, Ackroyd, Assadi, Barone, Beltran-Valero de Bernabe, Bielle, Booler, Borrell, Bouchet, Brockington, Buysse, Carss, Copp, Devisme, Dobyns, Ervasti, Gee, Halfter, Hartfuss, Hirotsune, Hong, Hu, Hu, Kranz, Lefeber, Lefeber, Longman, Manzini, Meyer, Montagnani, Moore, Moore, Myshrall, Radner, Reiner, Rice, Roscioli, Satz, Shaheen, Siegenthaler, Stevens, Sugita, Takiguchi-Hayashi, Toda, van Reeuwijk, Vuillaumier-Barrot, Willer, Yang, Yeo, Yoshida, Yoshida-Moriguchi, Yurchenco   +51 more
core   +2 more sources

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report. [PDF]

Medicine (Baltimore), 2023
Li J, Lin S, Wu Q, Feng J, Chen Q, Jiang K.   +5 more
europepmc   +1 more source

Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A. [PDF]

Front Genet, 2023
Diaz-Lombana N, Diaz-Ordoñez L, Gutierrez-Medina JD, Pachajoa H.   +3 more
europepmc   +1 more source

Congenital Muscular Dystrophy due to POMGNT1 Mutation Presenting as Cardioembolic Stroke. [PDF]

Ann Indian Acad Neurol, 2022
Iype M, Mithran OS, Ayyappan A, Iype M.
europepmc   +1 more source

Classification of Neuromuscular Disorders Based an Clinical Criteria , Molocular and Immunohistochemisty Analysis in Tehran Pateints

Journal of Rehabilitation, 2005
Objective: Neuromuscular disordres are a gorup of heterogenous inherited diseases. More than 150 types of these group of disorders have been known.The criticals that were used for classification of these disease include: age of onset, clinical course ...
Kimia Kahrizi, Yousef Shafaghati, Elaheh Keyhani, Mandana Hassan-Zad, Mojtaba A'zimiyan, Fereidoun Layeghi, Afshin Vojdani-Rowshan, John Andoni-Ortizbera, Daniel Hentay, Hossein Najm-Abadi   +9 more
doaj  

Author Correction: Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy. [PDF]

Sci Rep, 2022
Murakami T, Sato T, Adachi M, Ishiguro K, Shichiji M, Tachimori H, Nagata S, Ishigaki K.   +7 more
europepmc   +1 more source

Early Introduction of Power Mobility Devices for Children with Fukuyama Congenital Muscular Dystrophy and Its Psychological Impact on Caregivers: A Case Report. [PDF]

Pediatr Rep, 2023
Fujita H.
europepmc   +1 more source

Lysosomes and the pathogenesis of merosin-deficient congenital muscular dystrophy. [PDF]

Hum Mol Genet, 2022
Smith SJ, Fabian L, Sheikh A, Noche R, Cui X, Moore SA, Dowling JJ.   +6 more
europepmc   +1 more source

Novel CMR findings in megaconial congenital muscular dystrophy. [PDF]

Kaohsiung J Med Sci, 2022
Chen X, Yang ZX, Tang SQ, Zhang Q.
europepmc   +1 more source