-
1
-
-
0141940440
-
Myotonia congenita and syndromes associated with myotonia
-
Becker PE, Lenz W, Vogel F, Wendt GG, eds. Stuttgart: Georg Thieme
-
Becker PE. Myotonia congenita and syndromes associated with myotonia. In: Becker PE, Lenz W, Vogel F, Wendt GG, eds. Topics in human genetics. Vol 3. Stuttgart: Georg Thieme, 1977: 1-179.
-
(1977)
Topics in Human Genetics
, vol.3
, pp. 1-179
-
-
Becker, P.E.1
-
2
-
-
0001205882
-
Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge ärbter psychischer Disposition (Ataxia muscularis)
-
Thomsen J. Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge ärbter psychischer Disposition (Ataxia muscularis). Arch Psychiatr Nervenkr 1876;6:702-718.
-
(1876)
Arch Psychiatr Nervenkr
, vol.6
, pp. 702-718
-
-
Thomsen, J.1
-
3
-
-
0021811103
-
Membrane changes in cells from myotonia patients
-
Rudel R, Lehmann-Horn F. Membrane changes in cells from myotonia patients. Physiol Rev 1985;65:310-356.
-
(1985)
Physiol Rev
, vol.65
, pp. 310-356
-
-
Rudel, R.1
Lehmann-Horn, F.2
-
4
-
-
0023870358
-
Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker)
-
Rudel R, Ricker K, Lehmann-Horn F. Transient weakness and altered membrane characteristic in recessive generalized myotonia (Becker). Muscle Nerve 1988;11:202-211.
-
(1988)
Muscle Nerve
, vol.11
, pp. 202-211
-
-
Rudel, R.1
Ricker, K.2
Lehmann-Horn, F.3
-
5
-
-
0026705098
-
The skeletal muscle chloride channel in dominant and recessive human myotonia
-
Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
-
(1992)
Science
, vol.257
, pp. 797-800
-
-
Koch, M.C.1
Steinmeyer, K.2
Lorenz, C.3
-
6
-
-
0028913998
-
Overexcited or inactive: Ion channels in muscle disease
-
Hoffman EP, Lehmann-Horn F, Rüdel R. Overexcited or inactive: ion channels in muscle disease. Cell 1995;80:681-686.
-
(1995)
Cell
, vol.80
, pp. 681-686
-
-
Hoffman, E.P.1
Lehmann-Horn, F.2
Rüdel, R.3
-
7
-
-
0029830509
-
Myotonia and the muscle chloride channel: Dominant mutations show variable penetrance and founder effect
-
Koty PP, Pegoraro E, Hobson G, et al. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996;47:963-968.
-
(1996)
Neurology
, vol.47
, pp. 963-968
-
-
Koty, P.P.1
Pegoraro, E.2
Hobson, G.3
-
8
-
-
0343812098
-
Chloride channels: An emerging molecular picture
-
Jentsch TJ, Günther W. Chloride channels: an emerging molecular picture. BioEssays 1997;19:117-126.
-
(1997)
BioEssays
, vol.19
, pp. 117-126
-
-
Jentsch, T.J.1
Günther, W.2
-
9
-
-
0026039594
-
Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel
-
Steinmeyer K, Ortland C, Jentsch TJ. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 1991;354:301-304.
-
(1991)
Nature
, vol.354
, pp. 301-304
-
-
Steinmeyer, K.1
Ortland, C.2
Jentsch, T.J.3
-
10
-
-
0028307668
-
Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia
-
Lorenz C, Meyer-Kleine C, Steinmeyer K, Koch MC, Jentsch TJ. Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia. Hum Mol Genet 1994;3:941-946.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 941-946
-
-
Lorenz, C.1
Meyer-Kleine, C.2
Steinmeyer, K.3
Koch, M.C.4
Jentsch, T.J.5
-
11
-
-
0020465436
-
Myotonia congenita and myotonic dystrophy: Descriptive epidemiological investigation in Turin, Italy (1955-1979)
-
Pinessi L, Bergamini L, Cantello R, Di Tizio C. Myotonia congenita and myotonic dystrophy: descriptive epidemiological investigation in Turin, Italy (1955-1979). Ital J Neurol Sci 1982;3:207-210.
-
(1982)
Ital J Neurol Sci
, vol.3
, pp. 207-210
-
-
Pinessi, L.1
Bergamini, L.2
Cantello, R.3
Di Tizio, C.4
-
12
-
-
0031977586
-
Myotonia congenita in northern Finland: An epidemiological study
-
Baumann P, Myllylä W, Leisti J. Myotonia congenita in northern Finland: an epidemiological study. J Med Genet 1998;35:293-296.
-
(1998)
J Med Genet
, vol.35
, pp. 293-296
-
-
Baumann, P.1
Myllylä, W.2
Leisti, J.3
-
13
-
-
0027997634
-
Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita
-
George AL Jr, Sloan-Brown K, Fenichel GM, Mitchell GA, Spiegel R, Pascuzzi RM. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994;3:2071-2072.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2071-2072
-
-
George A.L., Jr.1
Sloan-Brown, K.2
Fenichel, G.M.3
Mitchell, G.A.4
Spiegel, R.5
Pascuzzi, R.M.6
-
14
-
-
0028820679
-
Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia
-
Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 1995;57:1325-1334.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 1325-1334
-
-
Meyer-Kleine, C.1
Steinmeyer, K.2
Ricker, K.3
Jentsch, T.J.4
Koch, M.C.5
-
15
-
-
0029853212
-
Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita
-
Zhang J, George AL Jr, Griggs RC, et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996;47:993-998.
-
(1996)
Neurology
, vol.47
, pp. 993-998
-
-
Zhang, J.1
George A.L., Jr.2
Griggs, R.C.3
-
16
-
-
0031033505
-
Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family
-
Sloan-Brown K, George AL Jr. Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family. Neurology 1997;48:542-543.
-
(1997)
Neurology
, vol.48
, pp. 542-543
-
-
Sloan-Brown, K.1
George A.L., Jr.2
-
17
-
-
0032008671
-
Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia
-
Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH. Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. Neurogenetics 1998;1:185-188.
-
(1998)
Neurogenetics
, vol.1
, pp. 185-188
-
-
Esteban, J.1
Neumeyer, A.M.2
McKenna-Yasek, D.3
Brown, R.H.4
-
18
-
-
0031900418
-
Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance
-
Plassart-Schiess E, Gervais BS, Eymard B, et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 1998;50:1176-1179.
-
(1998)
Neurology
, vol.50
, pp. 1176-1179
-
-
Plassart-Schiess, E.1
Gervais, B.S.2
Eymard, B.3
-
19
-
-
0015858194
-
Hereditary diseases in Finland: Rare flora in rare soul
-
Norio R, Nevanlinna HR, Perheentupa J. Hereditary diseases in Finland: rare flora in rare soul. Ann Clin Res 1973;5:109-141.
-
(1973)
Ann Clin Res
, vol.5
, pp. 109-141
-
-
Norio, R.1
Nevanlinna, H.R.2
Perheentupa, J.3
-
20
-
-
0027507885
-
Disease gene mapping in isolated human populations: The example of Finland
-
de la Chapelle A. Disease gene mapping in isolated human populations: the example of Finland. J Med Genet 1993;30: 857-865.
-
(1993)
J Med Genet
, vol.30
, pp. 857-865
-
-
De La Chapelle, A.1
-
24
-
-
0022372670
-
Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia
-
Saiki RK, Scharf S, Faloona F, et al. Enzymatic amplification of β-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. Science 1985;230:1350-1354.
-
(1985)
Science
, vol.230
, pp. 1350-1354
-
-
Saiki, R.K.1
Scharf, S.2
Faloona, F.3
-
25
-
-
0030788587
-
Transmembrane topology of a CLC chloride channel
-
Schmidt-Rose T, Jentsch TJ. Transmembrane topology of a CLC chloride channel. Proc Natl Acad Sci USA 1997;94:7633-7638.
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 7633-7638
-
-
Schmidt-Rose, T.1
Jentsch, T.J.2
-
26
-
-
0031926906
-
The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology
-
Wagner S, Deymzeer F, Kürz LL, et al. The dominant chloride channel mutant G200R causing fluctuating myotonia: clinical findings, electrophysiology, and channel pathology. Muscle Nerve 1998;21:1122-1128.
-
(1998)
Muscle Nerve
, vol.21
, pp. 1122-1128
-
-
Wagner, S.1
Deymzeer, F.2
Kürz, L.L.3
-
27
-
-
0015436884
-
The Finnish population structure: A genetic and genealogical study
-
Nevanlinna R. The Finnish population structure: a genetic and genealogical study. Hereditas 1972;71:195-236.
-
(1972)
Hereditas
, vol.71
, pp. 195-236
-
-
Nevanlinna, R.1
|