Results 141 to 150 of about 1,979 (203)

Diagnosis of dysferlinopathy masked by a superimposed hypothyroid myopathy. [PDF]

BMJ Case Rep
Benn KW, Bhalala OG, Day TJ, French CR.
europepmc   +1 more source

Neuromuscular electrical stimulation promotes development in mice of mature human muscle from immortalized human myoblasts [PDF]

core   +1 more source

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

Infertility Due to a Novel Variant of a Balanced Y;1 Translocation: A Case Report. [PDF]

Cureus
Magnuson S, Doney K, Wesemann LB, Gross K.   +3 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

Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases. [PDF]

Int J Mol Sci
Akyürek EE, Erba M, Dalla Barba F, Sandonà D, Sacchetto R.   +4 more
europepmc   +1 more source

Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing. [PDF]

Glob Med Genet
Mathur P, Kaur A, Vijay U, Gupta A, Agarwal K, Agrawal L.   +5 more
europepmc   +1 more source

Metabolic dysregulation contributes to the development of dysferlinopathy. [PDF]

Life Sci Alliance
Furrer R, Dilbaz S, Steurer SA, Santos G, Karrer-Cardel B, Ritz D, Sinnreich M, Handschin C.   +7 more
europepmc   +1 more source

Brain of miyoshi myopathy/dysferlinopathy patients presents with structural and metabolic anomalies. [PDF]

Sci Rep
Hnilicova P, Grendar M, Turcanova Koprusakova M, Trancikova Kralova A, Harsanyiova J, Krssak M, Just I, Misovicova N, Hikkelova M, Grossmann J, Spalek P, Meciarova I, Kurca E, Zilka N, Zelenak K, Bogner W, Kolisek M.   +16 more
europepmc   +1 more source

Challenging Diagnosis of a Patient with Two Novel Variants in the SYNE1 Gene. [PDF]

Int J Mol Sci
Kuchina A, Murtazina A, Borovikov A, Subbotin D, Bardakov S, Akhkiamova M, Nikolaeva A, Shchagina O, Kutsev S.   +8 more
europepmc   +1 more source