Results 121 to 130 of about 1,270,049 (189)

Natural History of Adult-Onset Myotonic Dystrophy Type 1: Longitudinal Changes in Radiologic, Clinical, and Patient-Reported Outcomes. [PDF]

Neurology
Iterbeke L, Huysmans L, Bamps K, Peeters R, Goosens V, Maes F, Dupont P, Claeys KG.   +7 more
europepmc   +1 more source

Current biomarker development in myotonic dystrophies. [PDF]

J Neurol
Larsen M, Mendelsohn DH, Kleefeld F, Meinke P, Schoser B.   +4 more
europepmc   +1 more source

Role of Otolaryngology in Monitoring the Progression of Myotonic Dystrophy: A Case Report. [PDF]

Cureus
Pudi V, Shah A.
europepmc   +1 more source

Systematic mapping of rare genetic disease studies using UK primary care electronic health records. [PDF]

Eur J Hum Genet
Wright TEB, Slevin H, Magnier S, Carr MJ, Garg S, Webb RT, Ashcroft DM, Banka S.   +7 more
europepmc   +1 more source

Editorial: Neuromuscular disorders: biomarkers, precision diagnosis, and targeted therapeutics. [PDF]

Front Neurosci
Zafarullah M, Banerjee R, Singh A, Ghosh A, Almeida S.   +4 more
europepmc   +1 more source

Recurrent Severe Viral-Induced Rhabdomyolysis Associated With Underlying Genetic Variants in a Young Adult: A Case Report. [PDF]

Cureus
Stone AM, Bunch CM, Gauger A, Seela G, Aboumourad N, Maust J, Picardal A, Roschyk CJ, Gonzales BA, Dollard AC, Abdelghani A, Yakey B, Klever RG, Miller J.   +13 more
europepmc   +1 more source

Elimination of myotonia improves myopathy in a muscleblind-like knockout model of myotonic dystrophy. [PDF]

Nat Commun
Sipple MT, Hamazaki SA, Todorow V, Cisco LA, Lupia KM, Heil CS, Meinke P, Thornton CA, Lueck JD.   +8 more
europepmc   +1 more source

Unmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant. [PDF]

Pacing Clin Electrophysiol
d'Apolito M, D'Apice MR, Santoro F, Patrizio MP, Ranaldi A, Botta A, D'Andrea G, Santacroce R, Novelli G, Margaglione M.   +9 more
europepmc   +1 more source

Thrombosis in Neuromuscular Medicine: Current Evidence, Unmet Needs, and Future Directions. [PDF]

J Clin Med
Quak ZX, Wang F, Tay SKH, Koh PL, Yap ES, Ng KWP.   +5 more
europepmc   +1 more source