Detalhe da pesquisa
1.
Current and future therapeutic approaches to the congenital myopathies.
Semin Cell Dev Biol
; 64: 191-200, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27515125
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2.
Aerobic training in myotonia congenita: Effect on myotonia and fitness.
Muscle Nerve
; 56(4): 696-699, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28039888
3.
[Diagnosis and treatment of congenital myopaties]. / Diagnóstico y tratamiento de las miopatías congénitas.
Medicina (B Aires)
; 79 Suppl 3: 82-86, 2019.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31603850
4.
De novo variant in SCN4A causes neonatal sodium channel myotonia with general muscle stiffness and respiratory failure.
Neuromuscul Disord
; 29(11): 907-909, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732390
5.
Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
Acta Neurol Taiwan
; 16(4): 214-20, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18220014
6.
Quantification of mobility impairment and self-assessment of stiffness in patients with myotonia congenita by the physiotherapist.
Neuromuscul Disord
; 15(9-10): 610-7, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16084086
7.
Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment.
J Child Neurol
; 12(2): 116-29, 1997 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-9075021
8.
[A case of familial muscle weakness corrected by exercise (author's transl)]. / Un nouveau cas de faiblesse musculaire corrigée par l'exercice (forme familiale).
Rev Neurol (Paris)
; 135(8-9): 583-92, 1979 Oct.
Artigo
em Francês
| MEDLINE | ID: mdl-531413
9.
[Myotonia with muscular weakness corrected by exercise. The therapeutic effect of mexiletine]. / Myotonie avec faiblesse musculaire corrigée par l'exercice. Effet thérapeutique de la mexilétine.
Rev Neurol (Paris)
; 139(11): 665-72, 1983.
Artigo
em Francês
| MEDLINE | ID: mdl-6677978
10.
Autosomal recessive nondystrophic myotonia. Report of a case with unusual clinical course.
Arq Neuropsiquiatr
; 53(1): 114-7, 1995 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-7575194
11.
[The genetic basis of muscle disease]. / Arvelige muskelsykdommer.
Tidsskr Nor Laegeforen
; 123(18): 2588-92, 2003 Sep 25.
Artigo
em Norueguês
| MEDLINE | ID: mdl-14714051
12.
Diagnóstico y tratamiento de las miopatías congénitas / Diagnosis and treatment of congenital myopaties
Medicina (B.Aires)
; 79(supl.3): 82-86, set. 2019. ilus, tab
Artigo
em Espanhol
| LILACS | ID: biblio-1040556
13.
Clinicopathologic Conference: A Newborn With Hypotonia, Cleft Palate, Micrognathia, and Bilateral Club Feet.
Pediatr Neurol
; 74: 11-14, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28676249
14.
Don't shoot the messenger.
Drug Discov Today
; 8(5): 187-8, 2003 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12634003
15.
Myotonia congenita. A review of four cases.
J Bone Joint Surg Am
; 52(7): 1345-50, 1970 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-5469190
16.
[Congenital myotonia, muscular weakness treated by exertion and muscular hypertrophy]. / Myotonie congénitale, faiblesse musculaire corrigée par l'exercice et hypertrophie musculaire
Rev Neurol (Paris)
; 129(1): 53-7, 1973 Jul.
Artigo
em Francês
| MEDLINE | ID: mdl-4793732
17.
[The man behind the syndrome: Julius Thomsen. He himself suffered of a type of myotonia]. / Mannen bakom syndromet: Julius Thomsen. Led själv av en form av myotoni.
Lakartidningen
; 91(36): 3178-80, 1994 Sep 07.
Artigo
em Sueco
| MEDLINE | ID: mdl-7990560
19.
Diagnóstico y tratamiento de las miotonías congénitas menos frecuentes / Diagnosis and treatment of less common myotonia congenita
Arch. méd. Camaguey
; 16(2): 229-243, mar.-abr. 2012.
Artigo
em Espanhol
| LILACS | ID: lil-628130
20.
[Familial myotonic syndrome with hyposthenia corrected with exercise (author's transl)]. / Sindrome miotonica familiare con ipostenia corretta dall'esercizio.
Riv Patol Nerv Ment
; 97(3): 170-9, 1976 Jun.
Artigo
em Italiano
| MEDLINE | ID: mdl-1032032