Results 141 to 150 of about 7,593 (207)

DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation. [PDF]

JCI Insight
Bruge C, Bourg N, Pellier E, Miagoux Q, Benabides M, Grossi N, Hayat H, Jarrige M, Polveche H, Agostini V, Brureau A, Vassilopoulos S, Evangelista T, Fernández-Eulate G, Stojkovic T, Richard I, Nissan X.   +16 more
europepmc   +1 more source

Dantrolene-Responsive Muscle Stiffness in a Patient With a Normal Neurologic Exam and EMG: A Case Report. [PDF]

Case Rep Neurol Med
Deardorff AS, Burford MJ, Rich MM.
europepmc   +1 more source

Brazilian version of the ACTIVLIM: translation, cultural adaptation, and validation for neuromuscular disorders. [PDF]

Arq Neuropsiquiatr
Santos ACC, Almeida DM, Pereira NB, Silva AMS, Zanoteli E, Voos MC.   +5 more
europepmc   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

Oligomer-dependent and oligomer-independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3. [PDF]

J Biol Chem
Hisatsune C, Shinkai-Ouchi F, Hata S, Ono Y.   +3 more
europepmc   +1 more source

Complement C5 Inhibitor Ameliorates a Case of Dysferlinopathy. [PDF]

Neurol Neuroimmunol Neuroinflamm
Kang S, Wang Q, Lv H, Deng J, Zhang W, Lu X, Yuan Y, Wang Z, Zheng F, Yu M.   +9 more
europepmc   +1 more source

Hearing, Voice and Speech Disorders in 10-Year-Old-Boy with Facio-Scapulo-Humeral Dystrophy (FSHD) - Case Study. [PDF]

Appl Clin Genet
Duchnowska E, Kosztyła-Hojna B, Zdrojkowski M, Burton-Jones S, Kułak W.   +4 more
europepmc   +1 more source

<i>CRPPA</i> exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy. [PDF]

Pediatr Investig
Luo J, Liu Y, Song D, Yang S, Fu X, Ge L, Wei C, Cui L, Fan Y, Luo H, He Y, Xu J, Shen Q, Guo Y, Kanagawa M, Toda T, Wang J, Zhang H, Xiong H.   +18 more
europepmc   +1 more source

Diagnostic Value of Muscle Biopsy for the Evaluation of Adult Myopathy in Daily Clinical Practice. [PDF]

Diagnostics (Basel)
Kleinveld VEA, Wanschitz J, Hotter A, Mayr JA, Höftberger R, Löscher WN, Horlings CGC.   +6 more
europepmc   +1 more source