Results 81 to 90 of about 39,732 (154)

Myotonik syndromes - Clinical, electrophysiological and histopathological aspects (analysis of 15 patients)

, 1990
Çizgili kasta aktif bir kontraksiyonu takiben hareket impulsu kesilmesine rağmen kas kontraksiyonunun devam "Miyotoni" denir. Myotonik fenomenin görüldüğü, klinik olarak daha sık görülen, otozomal dominant geçişli üç sendrom vardır. 1-Myotonia Congenita,

core  

Over Irideremia Congenita

, 1878
OVER IRIDEREMIA CONGENITA Franciscus Cornelius Donders Library (-) Over Irideremia Congenita (-
Vermande, Lodewijk
core   +2 more sources

A Case of Congenital Paramyotonia with Atypical Features in a Family with a New Variation of SCN4A Gene

, 2018
SCN4A variations have been identified in various neuromuscular disorders, which are collectively named “sodium channelopathies”. Abstract We report the case of a patient who presented paramyotonia congenita with motor paroxysmal episodes since the ...
Grazia Gabriella Salerno, Daniele Frattini, Carlotta Spagnoli, Pisani Francesco, Fusco Carlo, Elena Pavlidis   +5 more
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A novel sporadic sodium channel mutation in a young adult patient with paramyotonia congenita

Türk Nöroloji Dergisi
Murat Yıldırım Kale, Berk Ozyilmaz, Yagmur Seymen, Alpaslan Çalişkan   +3 more
semanticscholar   +1 more source

177 Strabismus in paramyotonia congenita: a retrospective case review

177 Strabismus in paramyotonia congenita: a retrospective case review
Asad Murva, Pesoa Yair, Champsas Dimitrios, Jayaseelan Dipa, Munot Pinki, Bowman Richard   +5 more
semanticscholar   +1 more source

The diagnosis and treatment of dyskeratosis congenita: a review

, 2014
M Soledad Fernández García,1,2 Julie Teruya-Feldstein1 1Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA; 2Department of Pathology, Hospital Universitario Central de Asturias, Oviedo, Spain Abstract ...
Teruya-Feldstein J, Fernández García MS   +1 more
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A female patient with paramyotonia congenita. Part 1: Combination therapy of lacosamide and topiramate

Brain and Development Case Reports
Yoshie Kurokawa, K. Kojima, Tomoyuki Ishii, Eriko F. Jimbo, H. Yamagishi, A. Miyauchi, Hiroko Wakabayashi, Kazuhiro Muramatsu, Hitoshi Osaka, Takanori Yamagata   +9 more
semanticscholar   +1 more source

Paramyotonia Congenita without Cold Paralysis

Definitions, 2020

semanticscholar   +1 more source

A female patient with paramyotonia congenita. Part 2: Contribution of SCN4A to the developing brain

Brain and Development Case Reports
Yoshie Kurokawa, K. Kojima, Tomoyuki Ishii, Eriko F. Jimbo, H. Yamagishi, A. Miyauchi, Hiroko Wakabayashi, Kazuhiro Muramatsu, Hitoshi Osaka, Takanori Yamagata   +9 more
semanticscholar   +1 more source

A Detailed Clinical Approach to Non-dystrophic Myotonia: A Case Report of Two Brothers With Myotonia Congenita. [PDF]

Cureus, 2023
Gilitwala Z, Satpute S, Patil S.
europepmc   +1 more source