Results 131 to 140 of about 1,438 (185)

Treatabolome for finely targeting muscle pathology in LGMD. [PDF]

Acta Myol
Angelini C.
europepmc   +1 more source

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

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

LGMD R18 Mimicking Wilson Disease: 6-Year Longitudinal Muscle MRI Evolution and Clinical Insights into <i>TRAPPC11</i> Mutation. [PDF]

Diagnostics (Basel)
Chou YT, Chou HP, Chen YW.
europepmc   +1 more source

Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study. [PDF]

PLoS One
Kim SH, Choi Y, Park HJ, Hong JM, Choi YC.   +4 more
europepmc   +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

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

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