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Results 1 to 25 of 1977

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Non-dystrophic myotonia: prospective study of objective and patient reported outcomesTRIVEDI, Jaya R; BUNDY, Brian; GORHAM, Nina et al.Brain. 2013, Vol 136, pp 2189-2200, issn 0006-8950, 12 p., 7Article

THOMSEN OR BECKER MYOTONIA? A NOVEL AUTOSOMAL RECESSIVE NONSENSE MUTATION IN THE CLCN1 GENE ASSOCIATED WITH A MILD PHENOTYPEGURGEL-GIANNETTI, Juliana; SENKEVICS, Adriano S; ZILBERSZTAJN-GOTLIEB, Dinorah et al.Muscle & nerve. 2012, Vol 45, Num 2, pp 279-283, issn 0148-639X, 5 p.Article

Über den Wert mechanographischer Untersuchungen in der neuro-muskulären Funktionsdiagnostik = Valeur de la mécanographie pour le diagnostic fonctionnel neuromusculaire = The value of mecanography for neuromuscular functionnal diagnosticWAGNER, A; ZETT, L.Psychiatrie, Neurologie und medizinische Psychologie. 1984, Vol 36, Num 3, pp 130-139, issn 0033-2739Article

WEAKNESS IN MYOTONIC SYNDROMES.WILES CM; EDWARDS RHT.1977; LANCET; G.B.; DA. 1977; NO 8038; PP. 598-601; BIBL. 56 REF.Article

Myotonia congenita : A successful response to carbamazepineSAVITHA, M. R; KRISHNAMURTHY, B; HYDERI, Abbas et al.Indian journal of pediatrics. 2006, Vol 73, Num 5, pp 431-433, issn 0019-5456, 3 p.Article

Membrane changes in cells from myotonia patientsRÜDEL, R; LEHMANN-HORN, F.Physiological reviews. 1985, Vol 65, Num 2, pp 310-356, issn 0031-9333Article

Distribution of electrical myotonia in myotonic muscular dystrophySTREIB, E. W; SUN, S. F.Annals of neurology. 1983, Vol 14, Num 1, pp 80-82, issn 0364-5134Article

Health status in non-dystrophic myotonias: close relation with pain and fatigueTRIP, J; DE VRIES, J; DROST, G et al.Journal of neurology. 2009, Vol 256, Num 6, pp 939-947, issn 0340-5354, 9 p.Article

RECESSIVE CLCN1 MUTATION PRESENTING AS THOMSEN DISEASETHOMAS, Judy; TARLETON, Jack; BAKER, Steven K et al.Muscle & nerve. 2008, Vol 38, Num 5, pp 1515-1517, issn 0148-639X, 3 p.Article

Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patientsULZI, Gianna; LECCHI, Marzia; D'ANGELO, Grazia et al.Journal of the neurological sciences. 2012, Vol 318, Num 1-2, pp 65-71, issn 0022-510X, 7 p.Article

A NOVEL CLCN1 MUTATION (G1652A) CAUSING A MILD PHENOTYPE OF THOMSEN DISEASEKUMAR, Kishore R; NG, Karl; VANDEBONA, Himesha et al.Muscle & nerve. 2010, Vol 41, Num 3, pp 412-415, issn 0148-639X, 4 p.Article

Novel CLCN1 mutations in Taiwanese patients with myotonia congenitaJOU, Shuo-Bin; CHANG, Ling-I; PAN, Huichin et al.Journal of neurology. 2004, Vol 251, Num 6, pp 666-670, issn 0340-5354, 5 p.Article

Chloride channel myotonia : exon 8 hot-spot for dominant-negative interactionsFIALHO, D; SCHORGE, S; KULLMANN, D. M et al.Brain. 2007, Vol 130, pp 3265-3274, issn 0006-8950, 10 p., 12Article

Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenitaKUO, H.-C; HSIAO, K.-M; CHANG, L.-I et al.Acta neurologica scandinavica. 2006, Vol 113, Num 5, pp 342-346, issn 0001-6314, 5 p.Article

Myotonia, periodic paramysis and myopathyWINTZEN, A. R.Clinical neurology and neurosurgery. 1992, Vol 94, pp S25-S27, issn 0303-8467, SUPConference Paper

Lithium-induced improvement of myotoniaGERST, J. W; BRUMBACK, R. A; STATON, R. D et al.Journal of neurology, neurosurgery and psychiatry. 1984, Vol 47, Num 9, pp 1044-1046, issn 0022-3050Article

THE QUANTIFICATION OF MYOTONIA : A PROBLEM IN THE EVALUATION OF NEW ANTIMYOTONIC DRUGSDURELLI L; MUTANI R; PIREDDA S et al.1983; JOURNAL OF THE NEUROLOGICAL SCIENCES; ISSN 0022-510X; NLD; DA. 1983; VOL. 59; NO 2; PP. 167-173; BIBL. 19 REF.Article

ELECTRON SPIN RESONANCE STUDIES OF AN ANIMAL MODEL OF HUMAN CONGENITAL MYOTONIA: INCREASED ERYTHROCYTE MEMBRANE FLUIDITY IN RATS WITH 20,25-DIAZACHOLESTEROL-INDUCED MYOTONIA.BUTTERFIELD DA; WATSON WE.1977; J. MEMBRANE BIOL.; U.S.A.; DA. 1977; VOL. 32; NO 1-2; PP. 165-176; BIBL. 2 P. 1/2Article

ASPECTS CLINIQUES ET GENETIQUES DES FORMES PRECOCES DE LA DYSTROPHIE MYOTONIQUE DE STEINERT.JULIENNE O.1976; ; S.L.; DA. 1976; PP. 1-74; BIBL. 5 P. 1/2; (THESE DOCT. MED.; TOURS)Thesis

MYOTONIC DYSTROPHY1981; DEU. NEUROL.; ISSN 0166-5960; NLD; DA. 1981; VOL. 5; PP. 3-78; BIBL. DISSEM.Conference Paper

LA MALADIE DE STEINERT: A PROPOS DE 123 CASAUDRY CHABOUD D; BADY B.1981; LYON MED.; ISSN 0024-7790; FRA; DA. 1981; VOL. 247; NO 17; PP. 255-263; ABS. ENG; BIBL. 50 REF.Article

MYOTONIA CONGENITA (THOMSEN'S DISEASE): EARLY DIAGNOSIS IN INFANCYHAREL S; CHUI LA; SHAPIRA Y et al.1979; ACTA PAEDIATR. SCAND.; SWE; DA. 1979; VOL. 68; NO 2; PP. 225-227; BIBL. 12 REF.Article

MYOTONIC DYSTROPHYHARPER PS.1979; MAJOR PROBL. NEUROL.; GBR; DA. 1979; VOL. 9; 343 P.; BIBL. DISSEM.Serial Issue

LA MALADIE DE STEINERT INFANTILE. A PROPOS DE TROIS OBSERVATIONSGIROUD MAURICE.1979; ; FRA; DA. 1979; 136; 180 P.: ILL.; 30 CM; H.T. 1; BIBL. 135 REF.; TH.: MED./DIJON/1979Thesis

MYOTONIES, PARAMYOTONIES ET PSEUDOMYOTONIESGASTAUT JL.1979; VIE MED.; FRA; DA. 1979; VOL. 60; NO 26; PP. 2271-2279; ( 5 P.); BIBL. 11 REF.Article

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