103 related articles for article (PubMed ID: 9771789)
1. Familial cramp due to potassium-aggravated myotonia.
Orrell RW; Jurkat-Rott K; Lehmann-Horn F; Lane RJ
J Neurol Neurosurg Psychiatry; 1998 Oct; 65(4):569-72. PubMed ID: 9771789
[TBL] [Abstract][Full Text] [Related]
2. [A girl with hereditary myotonia due to an exceptional sodium channel mutation].
van den Bergen JC; Verbruggen KT; Ginjaar HB; Kerstjens-Frederikse WS
Ned Tijdschr Geneeskd; 2006 Nov; 150(45):2501-6. PubMed ID: 17137100
[TBL] [Abstract][Full Text] [Related]
3. A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C; Laghetti P; Saltarella I; Altamura C; Canioni E; Iosa E; Maggi L; Brugnoni R; Tacconi P; Desaphy JF
J Neuromuscul Dis; 2024; 11(3):725-734. PubMed ID: 38427496
[TBL] [Abstract][Full Text] [Related]
4. Painful cramps and giant myotonic discharges in a family with the Nav1.4-G1306A mutation.
Torbergsen T; Jurkat-Rott K; Stålberg EV; Løseth S; Hødneø A; Lehmann-Horn F
Muscle Nerve; 2015 Oct; 52(4):680-3. PubMed ID: 26080010
[TBL] [Abstract][Full Text] [Related]
5. Cold extends electromyography distinction between ion channel mutations causing myotonia.
Fournier E; Viala K; Gervais H; Sternberg D; Arzel-Hézode M; Laforêt P; Eymard B; Tabti N; Willer JC; Vial C; Fontaine B
Ann Neurol; 2006 Sep; 60(3):356-65. PubMed ID: 16786525
[TBL] [Abstract][Full Text] [Related]
6. A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
Heine R; Pika U; Lehmann-Horn F
Hum Mol Genet; 1993 Sep; 2(9):1349-53. PubMed ID: 8242056
[TBL] [Abstract][Full Text] [Related]
7. A rare form of painful nondystrophic myotonia.
Torbergsen T; Hødnebø A; Brautaset NJ; Løseth S; Stålberg E
Clin Neurophysiol; 2003 Dec; 114(12):2347-54. PubMed ID: 14652094
[TBL] [Abstract][Full Text] [Related]
8. A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
Schoser BG; Schröder JM; Grimm T; Sternberg D; Kress W
Muscle Nerve; 2007 May; 35(5):599-606. PubMed ID: 17212350
[TBL] [Abstract][Full Text] [Related]
9. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
[TBL] [Abstract][Full Text] [Related]
10. A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF; Takahashi MP; Pegoraro E; Angelini C; Colleselli P; Cannon SC; Hoffman EP
Neurology; 2001 Apr; 56(7):878-84. PubMed ID: 11294924
[TBL] [Abstract][Full Text] [Related]
11. Familial continuous motor unit activity and epilepsy.
Liguori R; Avoni P; Baruzzi A; Di Stasi V; Montagna P
Muscle Nerve; 2001 May; 24(5):630-3. PubMed ID: 11317272
[TBL] [Abstract][Full Text] [Related]
12. Myotonia congenita with painful muscle contractions.
Sanders DB
Arch Neurol; 1976 Aug; 33(8):580-2. PubMed ID: 942314
[TBL] [Abstract][Full Text] [Related]
13. Myotonia fluctuans.
Ricker K; Lehmann-Horn F; Moxley RT
Arch Neurol; 1990 Mar; 47(3):268-72. PubMed ID: 2310311
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report.
Xu C; Qi J; Shi Y; Feng Y; Zang W; Zhang J
Int J Clin Exp Pathol; 2015; 8(1):1050-6. PubMed ID: 25755818
[TBL] [Abstract][Full Text] [Related]
15. Proximal myotonic myopathy. Analysis of 3 Swedish cases.
Schuitevoerder K; Ansved T; Solders G; Borg K
Acta Neurol Scand; 1997 Oct; 96(4):266-70. PubMed ID: 9325482
[TBL] [Abstract][Full Text] [Related]
16. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y; Aoki T; Sugiyama Y; Hida C; Ogata M; Yamamoto T
Neurology; 2000 Jun; 54(11):2179-81. PubMed ID: 10851391
[TBL] [Abstract][Full Text] [Related]
17. A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.
Bissay V; Keymolen K; Lissens W; Schmedding E; De Keyser J
J Neurol Sci; 2011 Sep; 308(1-2):162-4. PubMed ID: 21752396
[TBL] [Abstract][Full Text] [Related]
18. Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
Maggi L; Ravaglia S; Farinato A; Brugnoni R; Altamura C; Imbrici P; Camerino DC; Padovani A; Mantegazza R; Bernasconi P; Desaphy JF; Filosto M
Neurogenetics; 2017 Dec; 18(4):219-225. PubMed ID: 28993909
[TBL] [Abstract][Full Text] [Related]
19. Proximal myotonic myopathy: clinical, electrophysiological and pathological findings in a family.
Kohler A; Burkhard P; Hefft S; Bottani A; Pizzolato GP; Magistris MR
Eur Neurol; 2000; 43(1):50-3. PubMed ID: 10601809
[TBL] [Abstract][Full Text] [Related]
20. Myotonia fluctuans. A third type of muscle sodium channel disease.
Ricker K; Moxley RT; Heine R; Lehmann-Horn F
Arch Neurol; 1994 Nov; 51(11):1095-102. PubMed ID: 7980103
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]