Results 131 to 140 of about 3,302 (205)

Autosomal Recessive Myotonia Congenita in an Adolescent Boy With Novel Mutation: A Case Report With Discussion on Management. [PDF]

Cureus
Das P, Panigrahi D.
europepmc   +1 more source

Treatment of myotonia congenita with retigabine in mice. [PDF]

Exp Neurol, 2019
Dupont C, Denman KS, Hawash AA, Voss AA, Rich MM.   +4 more
europepmc   +1 more source

Evaluation of Cases with Myotonia Congenita for Cardiovascular Risk. [PDF]

Medeni Med J, 2019
Damar IH, Eroz R.
europepmc   +1 more source

Thomsen and Myotonia Congenita [PDF]

Medical History, 1968
openaire   +2 more sources

Progressive joint limitations as the first alarming signs in a boy with short – limbed dwarfism: A case report [PDF]

, 2008
Ali Al Kaissi, Klaus Klaushofer, Franz Grill, M Rittler, PE Andersen Jr, EM Rosser, EA Freeman, A Stuve, A Giedion, KC Archibald, K Bergstrom, U Burck, RG Curless, JJ Finkel, Y Matsui, R Savarirayan, U Wester, JW Spranger   +17 more
core   +1 more source

Myotonia Congenita [PDF]

, 2019
openaire   +1 more source

Recessively inherited myotonia congenita. [PDF]

Journal of Medical Genetics, 1972
P S, Harper, D M, Johnston
openaire   +2 more sources

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy. [PDF]

, 2018
Bugiardini, E, Chelban, V, Davagnanam, I, Efthymiou, S, Hanna, MG, Houlden, H, Lynch, DS, Manole, A, Manzur, AY, Marino, S, Matthews, E, O'Connor, E, Pittman, A, Roberts, M, Vandrovcova, J, Wiethoff, S, Wood, NW   +16 more
core   +2 more sources

Open-label trial of ranolazine for the treatment of myotonia congenita. [PDF]

Neurology, 2017
Arnold WD, Kline D, Sanderson A, Hawash AA, Bartlett A, Novak KR, Rich MM, Kissel JT.   +7 more
europepmc   +1 more source

Molekularbiologie in der Neurologie [PDF]

, 1994
Borasio, Gian Domenico, Brandt, T., Gasser, T.   +2 more
core