Results 161 to 170 of about 11,146 (222)

TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant. [PDF]

Mol Genet Metab Rep
Skocy H, McFerren A, Cairns D, Kenney HM, Tallis E, Dhamoon AS, Garbade E, Mackenzie SJ.   +7 more
europepmc   +1 more source

Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1. [PDF]

Mol Ther
Tomassy GS, Fan W, Cao S, Luo Z, Magli A, Zhang T, Boyle K, Jackson R, Richards B, Liu D, Rapaport F, Khader S, Pfister EL, O'Riordan C, Frederick A, Sullivan J, Cao J, Nageswara Rao K, Assaf BT, Goulet M, Mueller C.   +20 more
europepmc   +1 more source

Unmasking MEGF10 Myopathy: A Rare Cause of Sudden Respiratory Failure in a Young Adult. [PDF]

Case Rep Neurol Med
Kleiser B, Hackenbruch L, Schittenhelm J, Bornemann A, Haack T, Grimm A, Martin P.   +6 more
europepmc   +1 more source

A Pediatric Case of Hypokalemic Periodic Paralysis With Fatigue and Myalgia. [PDF]

Cureus
Horie M, Fuchigami T, Kawaguchi T, Ishige M, Morioka I.   +4 more
europepmc   +1 more source

Gastrointestinal Manifestations As the Initial Presentation of Neurological Disease. [PDF]

Cureus
Datla P, Gopalan S, Arthur P.
europepmc   +1 more source

Posterior fossa arachnoid cysts in multiple system atrophy. [PDF]

IBRO Neurosci Rep
Blazek Ramsay AM, Flanagan EP, Coon EA, Jackson LM.   +3 more
europepmc   +1 more source

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders. [PDF]

Hum Genomics
Kim J, Kim GH, Min S, Seol CA, Seo EJ.
europepmc   +1 more source