Results 131 to 140 of about 11,146 (222)

A Case of Distal Hereditary Motor Neuropathy with HSPB1 Mutation in Coexistence with Myotonia and Myopathy. [PDF]

Noro Psikiyatr Ars
Uzunçakmak-Uyanık H, Tan E, Temuçin ÇM.   +2 more
europepmc   +1 more source

Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial [PDF]

, 2016

core   +1 more source

Measuring Myotonia: Normative Values and Comparison with Myotonic Dystrophy Type 1. [PDF]

Neurol Int
Sipos A, Árvai M, Varga D, Ruszin-Perecz B, Janszky J, Hajdú N, Pál E.   +6 more
europepmc   +1 more source

Autosomal Recessive Becker's Form of Myotonia Congenita in Indian Families. [PDF]

Cureus
Krovvidi S, Nelakurthi S, Gedela M, Singamsetty S, Bhimireddy V.   +4 more
europepmc   +1 more source

Barriers to Clinica and Translational Research & Challengers of Investigator Initiated Multi-Center Clinical Trials [PDF]

, 2015
Barohn, Richard L., Herbelin, Laura L.
core   +2 more sources

MYOTONIA

The Journal of Nervous and Mental Disease, 1939
openaire   +1 more source

Diagnosis of Myotonic Dystrophy Based on a History of Grip Myotonia in a 21-Year-Old Woman Undiagnosed for Five Years: A Case Report. [PDF]

Cureus
Maita H, Kobayashi T, Akimoto T, Osawa H, Hanada H.   +4 more
europepmc   +1 more source

Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy. [PDF]

Ann Neurol
Carrell ST, Carrell EM, Giovenco R, Davidson BL.   +3 more
europepmc   +1 more source

Aberrant skeletal muscle morphogenesis and myofiber differentiation characterize equine myotonic dystrophy. [PDF]

PLoS One
Valberg SJ, Williams ZJ, Ames EG, Mickelson JR, Nout-Lomas YS, Landolt G, Sanz M, Gardner K.   +7 more
europepmc   +1 more source

Case of Myotonia [PDF]

Proceedings of the Royal Society of Medicine, 1918
openaire   +2 more sources