-
1
-
-
0343777769
-
-
AAEE glossary of terms in clinical electromyography
-
AAEE glossary of terms in clinical electromyography. Muscle Nerve 1987;10:G1-G60.
-
(1987)
Muscle Nerve
, vol.10
-
-
-
3
-
-
0017642942
-
The declining electrical response of muscle to repetitive nerve stimulation in myotonia
-
Aminoff MJ, Layzer RB, Satya-Murti S, Faden AI. The declining electrical response of muscle to repetitive nerve stimulation in myotonia. Neurology 1977;27:812-816.
-
(1977)
Neurology
, vol.27
, pp. 812-816
-
-
Aminoff, M.J.1
Layzer, R.B.2
Satya-Murti, S.3
Faden, A.I.4
-
5
-
-
17944387329
-
Dystrophia myotonica probably caused by chloroquine
-
Blomberg LH. Dystrophia myotonica probably caused by chloroquine. Acta Neurol Scand Suppl 1965;13(Pt 2):647-651.
-
(1965)
Acta Neurol Scand Suppl
, vol.13
, Issue.PART 2
, pp. 647-651
-
-
Blomberg, L.H.1
-
6
-
-
0025062007
-
Progressive myopathy in hyperkalemic periodic paralysis
-
Bradley WG, Taylor R, Rice DR, Hausmanowa-Petruzewicz I, Adelman LS, Jenkison M, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neurol 1990;47:1013-1017.
-
(1990)
Arch Neurol
, vol.47
, pp. 1013-1017
-
-
Bradley, W.G.1
Taylor, R.2
Rice, D.R.3
Hausmanowa-Petruzewicz, I.4
Adelman, L.S.5
Jenkison, M.6
-
7
-
-
0016327416
-
Muscle weakness after rest in myotonic disorders; an electrophysiological study
-
Brown JC. Muscle weakness after rest in myotonic disorders; an electrophysiological study. J Neurol Neurosurg Psychiatry 1974;37:1336-1342.
-
(1974)
J Neurol Neurosurg Psychiatry
, vol.37
, pp. 1336-1342
-
-
Brown, J.C.1
-
10
-
-
0036310758
-
An expanding view for the molecular basis of familial periodic paralysis
-
Cannon SC. An expanding view for the molecular basis of familial periodic paralysis. Neuromuscul Disord 2002;12:533-543.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 533-543
-
-
Cannon, S.C.1
-
11
-
-
0025774566
-
A sodium channel defect in hyperkalemic periodic paralysis: Potassium-induced failure of inactivalion
-
Cannon SC, Brown RH Jr, Corey DP. A sodium channel defect in hyperkalemic periodic paralysis: potassium-induced failure of inactivalion. Neuron 1991;6:619-626.
-
(1991)
Neuron
, vol.6
, pp. 619-626
-
-
Cannon, S.C.1
Brown Jr, R.H.2
Corey, D.P.3
-
12
-
-
0344839032
-
Decrement of compound muscle action potential is related to mutation type in myotonia congenita
-
Colding-Jorgensen E, DunØ M, Schwartz M, Vissing J. Decrement of compound muscle action potential is related to mutation type in myotonia congenita. Muscle Nerve 2003;27: 449-455.
-
(2003)
Muscle Nerve
, vol.27
, pp. 449-455
-
-
Colding-Jorgensen, E.1
DunØ, M.2
Schwartz, M.3
Vissing, J.4
-
13
-
-
0037465516
-
Myotonic dystrophy type 2: Molecular, diagnostic and clinical spectrum
-
Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
-
(2003)
Neurology
, vol.60
, pp. 657-664
-
-
Day, J.W.1
Ricker, K.2
Jacobsen, J.F.3
Rasmussen, L.J.4
Dick, K.A.5
Kress, W.6
-
14
-
-
0016562305
-
Myotonia-induced by clofibrate and sodium chlorophenoxy isobutyrate
-
Dromgoole SH, Campion DS, Peter JB. Myotonia-induced by clofibrate and sodium chlorophenoxy isobutyrate. Biochem Med 1975;14:238-240.
-
(1975)
Biochem Med
, vol.14
, pp. 238-240
-
-
Dromgoole, S.H.1
Campion, D.S.2
Peter, J.B.3
-
16
-
-
0017893322
-
Myotonia induced with clofibrate in rats
-
Kwiecinski H. Myotonia induced with clofibrate in rats. J Neurol 1978;219:107-116.
-
(1978)
J Neurol
, vol.219
, pp. 107-116
-
-
Kwiecinski, H.1
-
18
-
-
0025670279
-
Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects
-
Links T, Zwarts MJ, Wilmink JT, Molenaar WM, Oosterhuis HJ. Permanent muscle weakness in familial hypokalaemic periodic paralysis. Clinical, radiological and pathological aspects. Brain 1990;113:1873-1889.
-
(1990)
Brain
, vol.113
, pp. 1873-1889
-
-
Links, T.1
Zwarts, M.J.2
Wilmink, J.T.3
Molenaar, W.M.4
Oosterhuis, H.J.5
-
19
-
-
0028269130
-
Oosterhuis Hf. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects
-
Links TP, Smit AJ, Molenaar WM, Zwarts MJ, Oosterhuis Hf. Familial hypokalemic periodic paralysis. Clinical, diagnostic and therapeutic aspects. J Neurol Sci 1994;122:33-43.
-
(1994)
J Neurol Sci
, vol.122
, pp. 33-43
-
-
Links, T.P.1
Smit, A.J.2
Molenaar, W.M.3
Zwarts, M.J.4
-
20
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
-
21
-
-
34047219170
-
Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy
-
Logigian EL, Ciafaloni E, Quinn LC, Dilek N, Pandya S, Moxley RT 3rd, et al. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2 myotonic dystrophy. Muscle Nerve 2007;35:479-485.
-
(2007)
Muscle Nerve
, vol.35
, pp. 479-485
-
-
Logigian, E.L.1
Ciafaloni, E.2
Quinn, L.C.3
Dilek, N.4
Pandya, S.5
Moxley 3rd, R.T.6
-
22
-
-
21444450805
-
Clinical and molecular aspects of the myotonic dystrophies: A review
-
Machuca-Tzili L, Brook D, Hilton-Jones D. Clinical and molecular aspects of the myotonic dystrophies: a review. Muscle Nerve 2005;32:1-18.
-
(2005)
Muscle Nerve
, vol.32
, pp. 1-18
-
-
Machuca-Tzili, L.1
Brook, D.2
Hilton-Jones, D.3
-
23
-
-
0033549032
-
A 10-year study of mortality in a cohort of patients with myotonic dystrophy
-
Mathieu J, Allard P, Potvin L, Prevost C, Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999;52:1658-1662.
-
(1999)
Neurology
, vol.52
, pp. 1658-1662
-
-
Mathieu, J.1
Allard, P.2
Potvin, L.3
Prevost, C.4
Begin, P.5
-
25
-
-
8644259260
-
Correlating phenotypc and genotype in the periodic paralyses
-
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, et al. Correlating phenotypc and genotype in the periodic paralyses. Neurology 2004;63:1647-1655.
-
(2004)
Neurology
, vol.63
, pp. 1647-1655
-
-
Miller, T.M.1
Dias da Silva, M.R.2
Miller, H.A.3
Kwiecinski, H.4
Mendell, J.R.5
Tawil, R.6
-
26
-
-
0033662239
-
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
-
Nicole S, Davoine CS, Topaloglu H, Cattolico L, Barral D, Beighton P, et al. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nat Genet 2000; 26:480-483.
-
(2000)
Nat Genet
, vol.26
, pp. 480-483
-
-
Nicole, S.1
Davoine, C.S.2
Topaloglu, H.3
Cattolico, L.4
Barral, D.5
Beighton, P.6
-
27
-
-
0041525490
-
102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands
-
Nicole S, Topaloglu H, Fontaine B. 102nd ENMC International Workshop on Schwartz-Jampel syndrome, 14-16 December, 2001, Naarden, The Netherlands. Neuromuscul Disord 2003;13:347-351.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 347-351
-
-
Nicole, S.1
Topaloglu, H.2
Fontaine, B.3
-
28
-
-
0020064621
-
Electromyographic distinction between paramyotonia congenita and myotonia congenita: Effect of cold
-
Nielsen VK, Friis ML, Johnsen T. Electromyographic distinction between paramyotonia congenita and myotonia congenita: effect of cold. Neurology 1982;32:827-832.
-
(1982)
Neurology
, vol.32
, pp. 827-832
-
-
Nielsen, V.K.1
Friis, M.L.2
Johnsen, T.3
-
29
-
-
0029554459
-
Potential risk of myopathy by HMG-CoA reductase inhibitors: A comparison of pravastatin and simvastatin effects on membrane electrical properties of rat skeletal muscle fibers
-
Pierno S, De Luca A, Tricarico D, Roselli A, Natuzzi F, Ferrannini E, et al. Potential risk of myopathy by HMG-CoA reductase inhibitors: a comparison of pravastatin and simvastatin effects on membrane electrical properties of rat skeletal muscle fibers. J Pharmacol Exp Ther 1995;275:1490-1496.
-
(1995)
J Pharmacol Exp Ther
, vol.275
, pp. 1490-1496
-
-
Pierno, S.1
De Luca, A.2
Tricarico, D.3
Roselli, A.4
Natuzzi, F.5
Ferrannini, E.6
-
30
-
-
0035907032
-
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
-
Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, et al. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001;105:511-519.
-
(2001)
Cell
, vol.105
, pp. 511-519
-
-
Plaster, N.M.1
Tawil, R.2
Tristani-Firouzi, M.3
Canun, S.4
Bendahhou, S.5
Tsunoda, A.6
-
32
-
-
0026568819
-
Linkage of atypical myotonia congenita to a sodium channel locus
-
Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 1992;42:431-433.
-
(1992)
Neurology
, vol.42
, pp. 431-433
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
Storvick, D.4
Leppert, M.5
-
33
-
-
0018125684
-
Alteration of developing and adult rat muscle membranes by zuclomiphene and other hypocholesterolemic agents
-
Ramsey RB, McGarry JD, Fischer VW, Sarnat HB. Alteration of developing and adult rat muscle membranes by zuclomiphene and other hypocholesterolemic agents. Acta Neuropathol (Berl) 1978;44:15-19.
-
(1978)
Acta Neuropathol (Berl)
, vol.44
, pp. 15-19
-
-
Ramsey, R.B.1
McGarry, J.D.2
Fischer, V.W.3
Sarnat, H.B.4
-
34
-
-
0036365532
-
Periodic paralyses and nondystrophic myotonias
-
Renner DR, Ptacek LJ. Periodic paralyses and nondystrophic myotonias. Adv Neurol 2002;88:235-252.
-
(2002)
Adv Neurol
, vol.88
, pp. 235-252
-
-
Renner, D.R.1
Ptacek, L.J.2
-
35
-
-
0017755751
-
Myotonia not aggravated by cooling. Force and relaxation of the adductor pollicis in normal subjects and in myotonia as compared to paramyotonia
-
Ricker K, Hertel G, Langscheid K, Stodieck G. Myotonia not aggravated by cooling. Force and relaxation of the adductor pollicis in normal subjects and in myotonia as compared to paramyotonia. J Neurol 1977;216:9-20.
-
(1977)
J Neurol
, vol.216
, pp. 9-20
-
-
Ricker, K.1
Hertel, G.2
Langscheid, K.3
Stodieck, G.4
-
36
-
-
0027982349
-
Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
-
Ricker K, Koch MC, Lehmann-Hom F, Pongratz D, Otto M, Heine R, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
-
(1994)
Neurology
, vol.44
, pp. 1448-1452
-
-
Ricker, K.1
Koch, M.C.2
Lehmann-Hom, F.3
Pongratz, D.4
Otto, M.5
Heine, R.6
-
37
-
-
1542314891
-
Current overview of statin-induced myopathy
-
Rosenson RS. Current overview of statin-induced myopathy. Am J Med 2004;116:408-416.
-
(2004)
Am J Med
, vol.116
, pp. 408-416
-
-
Rosenson, R.S.1
-
38
-
-
0030014793
-
Myotonia in colchicine myoneuropathy
-
Rutkove SB, De Girolami U, Preston DC, Freeman R, Nardin RA, Gouras GK, et al. Myotonia in colchicine myoneuropathy. Muscle Nerve 1996;19:870-875.
-
(1996)
Muscle Nerve
, vol.19
, pp. 870-875
-
-
Rutkove, S.B.1
De Girolami, U.2
Preston, D.C.3
Freeman, R.4
Nardin, R.A.5
Gouras, G.K.6
-
40
-
-
0015880486
-
Neural and muscular manifestations of hypothyroidism
-
Scarpalezos S, Lygidakis C, Papageorgiou C, Maliara S, Koukoulommati AS, Koutras DA. Neural and muscular manifestations of hypothyroidism. Arch Neurol 1973;29: 140-144.
-
(1973)
Arch Neurol
, vol.29
, pp. 140-144
-
-
Scarpalezos, S.1
Lygidakis, C.2
Papageorgiou, C.3
Maliara, S.4
Koukoulommati, A.S.5
Koutras, D.A.6
-
41
-
-
0028122974
-
Electrical myotonia of rabbit skeletal muscles by HMG-CoA reductase inhibitors
-
Sonoda Y, Gotow T, Kuriyama M, Nakahara K, Arimura K, Osame M. Electrical myotonia of rabbit skeletal muscles by HMG-CoA reductase inhibitors. Muscle Nerve 1994;17:891-897.
-
(1994)
Muscle Nerve
, vol.17
, pp. 891-897
-
-
Sonoda, Y.1
Gotow, T.2
Kuriyama, M.3
Nakahara, K.4
Arimura, K.5
Osame, M.6
-
42
-
-
0021483371
-
Evoked response testing in myotonic syndromes
-
Streib EW. Evoked response testing in myotonic syndromes. Muscle Nerve 1984;7:590-592.
-
(1984)
Muscle Nerve
, vol.7
, pp. 590-592
-
-
Streib, E.W.1
-
43
-
-
33750906742
-
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome
-
Stum M, Davoine CS, Vicart S, Guillot-Noel L, Topaloglu H, Carod-Artal FJ, et al. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome. Hum Mutat 2006;27:1082-1091.
-
(2006)
Hum Mutat
, vol.27
, pp. 1082-1091
-
-
Stum, M.1
Davoine, C.S.2
Vicart, S.3
Guillot-Noel, L.4
Topaloglu, H.5
Carod-Artal, F.J.6
|