Results 111 to 120 of about 1,335 (167)

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy. [PDF]

J Neuromuscul Dis
Enzmann C, Steiner L, Pospieszny K, Zweier C, Plattner K, Baumann D, Henzi B, Galiart E, Fink M, Jacquier D, Stettner GM, Ripellino P, Fluss J, Klein A, Swiss-Reg-NMD Group .   +14 more
europepmc   +1 more source

Corrigendum. [PDF]

Ann Clin Transl Neurol, 2021
europepmc   +1 more source

Combined skeletal dysplasia and vasculopathy phenotypes associated with in-frame intragenic deletion in PRKACA. [PDF]

HGG Adv
Weaver KN, Broeckel JW, Brown K, Wasserman H, Wu J, Neal A, Prada CE, Kleinschmidt NL, Machal EMF, Bertinetti D, Ruiz-Perez VL, Taylor SS, Brugmann SA, Herberg FW.   +13 more
europepmc   +1 more source

A Prospective Study on the Feasibility and Effect of an Optimized Perioperative Care Protocol in Pediatric Neuromuscular Scoliosis Surgery. [PDF]

J Clin Med
Naume MM, Hoei-Hansen CE, Born AP, Brekke G, Høj A, Nielsen MR, Borgwardt L, Vissing J, Dirks J, Rye AKS, Møller MH, Andersen TB, Ørngreen MC.   +12 more
europepmc   +1 more source

ZASP/LDB3-related atypical distal myopathy with subtle cardiac impairment unveiled after COVID-19 infection: a short report. [PDF]

Acta Myol
Gadaleta G, Pidello S, Urbano G, Carli D, Mongini T.   +4 more
europepmc   +1 more source

A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies. [PDF]

Hum Genomics
Khalilian S, Fathi M, Tangestani R, Larki P, Sayad A, Ghafouri-Fard S, Miryounesi M.   +6 more
europepmc   +1 more source

Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. [PDF]

Ital J Pediatr
Güner Özcanyüz D, GüL Mert G, Özcan N, Bilge S, İncecik F, Zorludemir S, Tuğ Bozdoğan S, Hergüner MÖ.   +7 more
europepmc   +1 more source

Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns. [PDF]

Cureus
Nmer S, Ameli A, Trhanint S, Chaouki S, Bouguenouch L, Ouldim K.   +5 more
europepmc   +1 more source

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. [PDF]

Acta Myol
Mouloudi N, Kably B, Sefiani S, Birouk N.   +3 more
europepmc   +1 more source

Late-onset myopathy responsive to immunomodulatory treatment: sporadic late-onset nemaline myopathy without nemaline rods? [PDF]

BMJ Neurol Open
Sadeh M, Fellig Y, Dabby R.
europepmc   +1 more source