-
1
-
-
0027159876
-
Acetylcholine receptor antibodies in juvenile myasthenia gravis
-
Andrews PI, Massey JM, Sanders DB. (1993) Acetylcholine receptor antibodies in juvenile myasthenia gravis. Neurology 43: 977-982.
-
(1993)
Neurology
, vol.43
, pp. 977-982
-
-
Andrews, P.I.1
Massey, J.M.2
Sanders, D.B.3
-
2
-
-
0036779688
-
Unravelling the pathogenesis of myasthenia gravis
-
Vincent A. (2002) Unravelling the pathogenesis of myasthenia gravis. Nat Rev Immunol 2: 797-804.
-
(2002)
Nat Rev Immunol
, vol.2
, pp. 797-804
-
-
Vincent, A.1
-
3
-
-
0020607960
-
HLA antigens and acetylcholine receptor antibodies in penicillamine induced myasthenia gravis
-
(Clin Res Ed)
-
Garlepp MI, Dawkins RL, Christiansen FT. (1983) HLA antigens and acetylcholine receptor antibodies in penicillamine induced myasthenia gravis. Br Med J (Clin Res Ed) 286: 1442-1443.
-
(1983)
Br Med J
, vol.286
, pp. 1442-1443
-
-
Garlepp, M.I.1
Dawkins, R.L.2
Christiansen, F.T.3
-
4
-
-
0018943586
-
Clinical, pathological, HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis
-
Compston DA, Vincent A, Newsom-Davis J, Batchelor JR. (1980) Clinical, pathological, HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis. Brain 103: 579-601.
-
(1980)
Brain
, vol.103
, pp. 579-601
-
-
Compston, D.A.1
Vincent, A.2
Newsom-Davis, J.3
Batchelor, J.R.4
-
5
-
-
33745863923
-
Acetylcholine receptor antibodies in myasthenia gravis are associated with greater risk of diabetes and thyroid disease
-
Toth C, McDonald D, Oger J, Brownell K. (2006) Acetylcholine receptor antibodies in myasthenia gravis are associated with greater risk of diabetes and thyroid disease. Acta Neurol Scand 114: 124-132.
-
(2006)
Acta Neurol Scand
, vol.114
, pp. 124-132
-
-
Toth, C.1
McDonald, D.2
Oger, J.3
Brownell, K.4
-
6
-
-
0024387257
-
The natural course of myasthenia gravis: A long term follow up study
-
Oosterhuis HJ. (1989) The natural course of myasthenia gravis: A long term follow up study. J Neurol Neurosurg Psychiatry 52: 1121-1127.
-
(1989)
J Neurol Neurosurg Psychiatry
, vol.52
, pp. 1121-1127
-
-
Oosterhuis, H.J.1
-
7
-
-
0027371141
-
Tests for juvenile myasthenia gravis: Comparative diagnostic yield and prediction of outcome
-
Afifi AK, Bell WE. (1993) Tests for juvenile myasthenia gravis: comparative diagnostic yield and prediction of outcome. J Child Neurol 8: 403-411.
-
(1993)
J Child Neurol
, vol.8
, pp. 403-411
-
-
Afifi, A.K.1
Bell, W.E.2
-
8
-
-
0031040513
-
Ocular myasthenia gravis: Response to long-term immunosuppressive treatment
-
Sommer N, Sigg B, Melms A, Weller M, Schepelmann K, Herzau V, Dichgans J. (1997) Ocular myasthenia gravis: Response to long-term immunosuppressive treatment. J Neurol Neurosurg Psychiatry 62: 156-162.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 156-162
-
-
Sommer, N.1
Sigg, B.2
Melms, A.3
Weller, M.4
Schepelmann, K.5
Herzau, V.6
Dichgans, J.7
-
9
-
-
0037322082
-
Development of generalised disease at 2 years in patients with ocular myasthenia gravis
-
Kupersmith MJ, Latkany R, Homel P. (2003) Development of generalised disease at 2 years in patients with ocular myasthenia gravis. Arch Neurol 60: 243-248.
-
(2003)
Arch Neurol
, vol.60
, pp. 243-248
-
-
Kupersmith, M.J.1
Latkany, R.2
Homel, P.3
-
11
-
-
33748976752
-
Ocular myasthenia: Diagnosis, treatment and pathogenesis
-
Kusner LL, Puwanant A, Kaminski HJ. (2006). Ocular myasthenia: diagnosis, treatment and pathogenesis. Neurologist 12: 231-239.
-
(2006)
Neurologist
, vol.12
, pp. 231-239
-
-
Kusner, L.L.1
Puwanant, A.2
Kaminski, H.J.3
-
13
-
-
0035105784
-
Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies
-
Hoch W, McConville J, Helms S, Newsom-Davis J, Melms A, Vincent A. (2001) Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies. Nat Med 7: 365-368.
-
(2001)
Nat Med
, vol.7
, pp. 365-368
-
-
Hoch, W.1
McConville, J.2
Helms, S.3
Newsom-Davis, J.4
Melms, A.5
Vincent, A.6
-
14
-
-
33745061989
-
MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis
-
Farrugia ME, Robson MD, Clover L, Anslow P, Newsom-Davis J, Kennett R, Hilton-Jones D, Matthews PM, Vincent A. (2006) MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis. Brain 129: 1481-1492.
-
(2006)
Brain
, vol.129
, pp. 1481-1492
-
-
Farrugia, M.E.1
Robson, M.D.2
Clover, L.3
Anslow, P.4
Newsom-Davis, J.5
Kennett, R.6
Hilton-Jones, D.7
Matthews, P.M.8
Vincent, A.9
-
15
-
-
33847175506
-
Clinical comparison of anti-MuSK- vs anti-AChR-positive and seronegative myasthenia gravis
-
Deymeer F, Gungor-Tuncer O, Yilmaz V, Parman Y, Serdaroglu P, Ozdemir C, Vincent A, Saruhan-Direskeneli G. (2007) Clinical comparison of anti-MuSK- vs anti-AChR-positive and seronegative myasthenia gravis. Neurology 68: 609-611.
-
(2007)
Neurology
, vol.68
, pp. 609-611
-
-
Deymeer, F.1
Gungor-Tuncer, O.2
Yilmaz, V.3
Parman, Y.4
Serdaroglu, P.5
Ozdemir, C.6
Vincent, A.7
Saruhan-Direskeneli, G.8
-
16
-
-
33746534220
-
Guidelines for the treatment of autoimmune neuromuscular transmission disorders
-
Skeie GO, Apostolski S, Evoli A, Gilhus NE, Hart IK, Harms L, Hilton-Jones D, Melms A, Verschuuren J, Horge H W. (2006) Guidelines for the treatment of autoimmune neuromuscular transmission disorders. Eur J Neurol 13: 691-699.
-
(2006)
Eur J Neurol
, vol.13
, pp. 691-699
-
-
Skeie, G.O.1
Apostolski, S.2
Evoli, A.3
Gilhus, N.E.4
Hart, I.K.5
Harms, L.6
Hilton-Jones, D.7
Melms, A.8
Verschuuren, J.9
Horge, H.W.10
-
17
-
-
12244284031
-
Myasthenia gravis and pregnancy: Clinical implications and neonatal outcome
-
Tellez-Zenteno JF, Hernandez-Ronquillo L, Salinas V, Estanol B, Da Silva O. (2004) Myasthenia gravis and pregnancy: Clinical implications and neonatal outcome. BMC Musculoskelet Disord 5: 42.
-
(2004)
BMC Musculoskelet Disord
, vol.5
, pp. 42
-
-
Tellez-Zenteno, J.F.1
Hernandez-Ronquillo, L.2
Salinas, V.3
Estanol, B.4
Da Silva, O.5
-
18
-
-
0031037405
-
The fetal/adult acetylcholine receptor antibody ratio in mothers with myasthenia gravis as a marker for transfer of the disease to the newborn
-
Gardnerova M, Eymard B, Morel E, Faltin M, Zajac J, Sadovsky O, Tripon P, Domergue M, Vernet-der Garabedian B, Bach JF. (1997) The fetal/adult acetylcholine receptor antibody ratio in mothers with myasthenia gravis as a marker for transfer of the disease to the newborn. Neurology 48: 50-54.
-
(1997)
Neurology
, vol.48
, pp. 50-54
-
-
Gardnerova, M.1
Eymard, B.2
Morel, E.3
Faltin, M.4
Zajac, J.5
Sadovsky, O.6
Tripon, P.7
Domergue, M.8
Vernet-der Garabedian, B.9
Bach, J.F.10
-
19
-
-
0023912013
-
The Lambert-Eaton myasthenic syndrome. A review of 50 cases
-
O'Neill JH, Murray NM, Newsom-Davis J. (1988) The Lambert-Eaton myasthenic syndrome. A review of 50 cases. Brain 111: 577-596.
-
(1988)
Brain
, vol.111
, pp. 577-596
-
-
O'Neill, J.H.1
Murray, N.M.2
Newsom-Davis, J.3
-
21
-
-
0021248753
-
Plasma exchange and immunosuppressive drug treatment in the Lambert-Eaton myasthenic syndrome
-
Newsom-Davis J, Murray NM. (1984) Plasma exchange and immunosuppressive drug treatment in the Lambert-Eaton myasthenic syndrome. Neurology 34: 480-485.
-
(1984)
Neurology
, vol.34
, pp. 480-485
-
-
Newsom-Davis, J.1
Murray, N.M.2
-
22
-
-
0000839934
-
Defect of neuromuscular conduction associated with malignant neoplasms
-
Lambert EH, Eaton LM, Rooke ED. (1956) Defect of neuromuscular conduction associated with malignant neoplasms. Am J Physiol 187: 612-613.
-
(1956)
Am J Physiol
, vol.187
, pp. 612-613
-
-
Lambert, E.H.1
Eaton, L.M.2
Rooke, E.D.3
-
24
-
-
0029923443
-
Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995
-
Middleton LT. (1996) Congenital myasthenic syndromes. 34th ENMC International Workshop, 10-11 June 1995. Neuromuscul Disord 6: 133-136.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 133-136
-
-
Middleton, L.T.1
-
25
-
-
0037233692
-
Congenital myasthenic syndromes: Progress over the past decade
-
Engel AG, Ohno K, Sine SM. (2003) Congenital myasthenic syndromes: progress over the past decade. Muscle Nerve 27: 4-25.
-
(2003)
Muscle Nerve
, vol.27
, pp. 4-25
-
-
Engel, A.G.1
Ohno, K.2
Sine, S.M.3
-
26
-
-
21244453035
-
126th International Workshop: Congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands
-
Beeson D, Hantai D, Lochmuller H, Engel AG. (2005) 126th International Workshop: Congenital myasthenic syndromes, 24-26 September 2004, Naarden, the Netherlands. Neuromuscul Disord 15: 498-512.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 498-512
-
-
Beeson, D.1
Hantai, D.2
Lochmuller, H.3
Engel, A.G.4
-
27
-
-
0036310759
-
Congenital myasthenic syndrome associated with episodic apnea and sudden infant death
-
Byring RF, Pihko H, Tsujino A, Shen XM, Gustafsson B, Hackman P, Ohno K, Engel AG, Udd B. (2002) Congenital myasthenic syndrome associated with episodic apnea and sudden infant death. Neuromuscul Disord 12: 548-553.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 548-553
-
-
Byring, R.F.1
Pihko, H.2
Tsujino, A.3
Shen, X.M.4
Gustafsson, B.5
Hackman, P.6
Ohno, K.7
Engel, A.G.8
Udd, B.9
-
28
-
-
13444312210
-
Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical ChAT mutations in two infants
-
Barisic N, Muller JS, Paucic-Kirincic E, Gazdik M, Lah-Tomulic K, Pertl A, Sertic J, Zurak N, Lochmuller H, Abicht A. (2005) Clinical variability of CMS-EA (congenital myasthenic syndrome with episodic apnea) due to identical ChAT mutations in two infants. Eur J Paediatr Neurol 9: 7-12.
-
(2005)
Eur J Paediatr Neurol
, vol.9
, pp. 7-12
-
-
Barisic, N.1
Muller, J.S.2
Paucic-Kirincic, E.3
Gazdik, M.4
Lah-Tomulic, K.5
Pertl, A.6
Sertic, J.7
Zurak, N.8
Lochmuller, H.9
Abicht, A.10
-
29
-
-
0035852681
-
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans
-
Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG. (2001) Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans. Proc Natl Acad Sci U S A 98: 2017-2022.
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 2017-2022
-
-
Ohno, K.1
Tsujino, A.2
Brengman, J.M.3
Harper, C.M.4
Bajzer, Z.5
Udd, B.6
Beyring, R.7
Robb, S.8
Kirkham, F.J.9
Engel, A.G.10
-
30
-
-
0027216425
-
Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release
-
Walls TJ, Engel AG, Nagel AS, Harper CM, Trastek VF. (1993) Congenital myasthenic syndrome associated with paucity of synaptic vesicles and reduced quantal release. Ann N Y Acad Sci 681: 461-468.
-
(1993)
Ann N Y Acad Sci
, vol.681
, pp. 461-468
-
-
Walls, T.J.1
Engel, A.G.2
Nagel, A.S.3
Harper, C.M.4
Trastek, V.F.5
-
31
-
-
0035943059
-
Presynaptic congenital myasthenic syndrome due to quantal release deficiency
-
Maselli RA, Kong DZ, Bowe CM, McDonald CM, Ellis WG, Agius MA, Gomez CM, Richman DP, Wollmann RL. (2001) Presynaptic congenital myasthenic syndrome due to quantal release deficiency. Neurology 57: 279-289.
-
(2001)
Neurology
, vol.57
, pp. 279-289
-
-
Maselli, R.A.1
Kong, D.Z.2
Bowe, C.M.3
McDonald, C.M.4
Ellis, W.G.5
Agius, M.A.6
Gomez, C.M.7
Richman, D.P.8
Wollmann, R.L.9
-
32
-
-
33646696195
-
Novel congenital myasthenic syndromes associated with defects in quantal release
-
Milone M, Fukuda T, Shen XM, Tsujino A, Brengman J, Engel AG. (2006) Novel congenital myasthenic syndromes associated with defects in quantal release. Neurology 66: 1223-1229.
-
(2006)
Neurology
, vol.66
, pp. 1223-1229
-
-
Milone, M.1
Fukuda, T.2
Shen, X.M.3
Tsujino, A.4
Brengman, J.5
Engel, A.G.6
-
34
-
-
0027301105
-
Congenital endplate acetylcholinesterase deficiency
-
Hutchinson DO, Walls TJ, Nakano S, Camp S, Taylor P, Harper CM, Groover RV, Peterson HA, Jamieson DG, Engel AG. (1993) Congenital endplate acetylcholinesterase deficiency. Brain 116: 633-653.
-
(1993)
Brain
, vol.116
, pp. 633-653
-
-
Hutchinson, D.O.1
Walls, T.J.2
Nakano, S.3
Camp, S.4
Taylor, P.5
Harper, C.M.6
Groover, R.V.7
Peterson, H.A.8
Jamieson, D.G.9
Engel, A.G.10
-
35
-
-
0037176796
-
Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
-
Shapira YA, Sadeh ME, Bergtraum MP, Tsujino A, Ohno K, Shen XM, Brengman J, Edwardson S, Matoth I, Engel AG. (2002) Three novel COLQ mutations and variation of phenotypic expressivity due to G240X. Neurology 58: 603-609.
-
(2002)
Neurology
, vol.58
, pp. 603-609
-
-
Shapira, Y.A.1
Sadeh, M.E.2
Bergtraum, M.P.3
Tsujino, A.4
Ohno, K.5
Shen, X.M.6
Brengman, J.7
Edwardson, S.8
Matoth, I.9
Engel, A.G.10
-
36
-
-
0032231665
-
Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)
-
Donger C, Krejci E, Serradell AP, Eymard B, Bon S, Nicole S, Chateau D, Gary F, Fardeau M, Massoulie J, Guicheney P. (1998) Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). Am J Hum Genet 63: 967-975.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 967-975
-
-
Donger, C.1
Krejci, E.2
Serradell, A.P.3
Eymard, B.4
Bon, S.5
Nicole, S.6
Chateau, D.7
Gary, F.8
Fardeau, M.9
Massoulie, J.10
Guicheney, P.11
-
37
-
-
22044438577
-
Congenital endplate acetylcholinesterase deficiency responsive to ephedrine
-
Bestue-Cardiel M, Saenz de Cabezon-Alvarez A, Capablo-Liesa JL, Lopez-Pison J, Pena-Segura JL, Martin-Martinez J, Engel AG. (2005) Congenital endplate acetylcholinesterase deficiency responsive to ephedrine. Neurology 65: 144-146.
-
(2005)
Neurology
, vol.65
, pp. 144-146
-
-
Bestue-Cardiel, M.1
Saenz de Cabezon-Alvarez, A.2
Capablo-Liesa, J.L.3
Lopez-Pison, J.4
Pena-Segura, J.L.5
Martin-Martinez, J.6
Engel, A.G.7
-
38
-
-
0030757151
-
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit
-
Milone M, Wang HL, Ohno K, Fukudome T, Pruitt JN, Bren N, Sine SM, Engel AG. (1997) Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. J Neurosci 17: 5651-5665.
-
(1997)
J Neurosci
, vol.17
, pp. 5651-5665
-
-
Milone, M.1
Wang, H.L.2
Ohno, K.3
Fukudome, T.4
Pruitt, J.N.5
Bren, N.6
Sine, S.M.7
Engel, A.G.8
-
39
-
-
0020047892
-
A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
-
Engel AG, Lambert EH, Mulder DM, Torres CF, Sahashi K, Bertorini TE, Whitaker JN. (1982) A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann Neurol 11: 553-569.
-
(1982)
Ann Neurol
, vol.11
, pp. 553-569
-
-
Engel, A.G.1
Lambert, E.H.2
Mulder, D.M.3
Torres, C.F.4
Sahashi, K.5
Bertorini, T.E.6
Whitaker, J.N.7
-
40
-
-
2442533155
-
Distinct phenotypes of congenital acetylcholine receptor deficiency
-
Burke G, Cossins J, Maxwell S, Robb S, Nicolle M, Vincent A, Newsom-Davis J, Palace J, Beeson D. (2004) Distinct phenotypes of congenital acetylcholine receptor deficiency. Neuromuscul Disord 14: 356-364.
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 356-364
-
-
Burke, G.1
Cossins, J.2
Maxwell, S.3
Robb, S.4
Nicolle, M.5
Vincent, A.6
Newsom-Davis, J.7
Palace, J.8
Beeson, D.9
-
41
-
-
10744220964
-
Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes
-
Burke G, Cossins J, Maxwell S, Owens G, Vincent A, Robb S, Nicolle M, Hilton-Jones D, Newsom-Davis J, Palace J, Beeson D. (2003) Rapsyn mutations in hereditary myasthenia: Distinct early- and late-onset phenotypes. Neurology 61: 826-828.
-
(2003)
Neurology
, vol.61
, pp. 826-828
-
-
Burke, G.1
Cossins, J.2
Maxwell, S.3
Owens, G.4
Vincent, A.5
Robb, S.6
Nicolle, M.7
Hilton-Jones, D.8
Newsom-Davis, J.9
Palace, J.10
Beeson, D.11
-
42
-
-
0036206747
-
Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome
-
Ohno K, Engel AG, Shen XM, Selcen D, Brengman J, Harper CM, Tsujino A, Milone M. (2002) Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. Am J Hum Genet 70: 875-885.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 875-885
-
-
Ohno, K.1
Engel, A.G.2
Shen, X.M.3
Selcen, D.4
Brengman, J.5
Harper, C.M.6
Tsujino, A.7
Milone, M.8
-
43
-
-
19944396127
-
MuSK, a new target for mutations causing congenital myasthenic syndrome
-
Chevessier F, Faraut B, Ravel-Chapuis A, Richard P, Gaudon K, Bauche S, Prioleau C, Herbst R, Goillot E, Ioos C, et al. (2004) MuSK, a new target for mutations causing congenital myasthenic syndrome. Hum Mol Genet 13: 3229-3240.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 3229-3240
-
-
Chevessier, F.1
Faraut, B.2
Ravel-Chapuis, A.3
Richard, P.4
Gaudon, K.5
Bauche, S.6
Prioleau, C.7
Herbst, R.8
Goillot, E.9
Ioos, C.10
-
44
-
-
0037794423
-
Myasthenic syndrome caused by mutation of the SCN4A sodium channel
-
Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG. (2003) Myasthenic syndrome caused by mutation of the SCN4A sodium channel. Proc Natl Acad Sci U S A 100: 7377-7382.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 7377-7382
-
-
Tsujino, A.1
Maertens, C.2
Ohno, K.3
Shen, X.M.4
Fukuda, T.5
Harper, C.M.6
Cannon, S.C.7
Engel, A.G.8
-
45
-
-
0032811908
-
Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency
-
Banwell BL, Russel J, Fukudome T, Shen XM, Stilling G, Engel AG. (1999) Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 58: 832-846.
-
(1999)
J Neuropathol Exp Neurol
, vol.58
, pp. 832-846
-
-
Banwell, B.L.1
Russel, J.2
Fukudome, T.3
Shen, X.M.4
Stilling, G.5
Engel, A.G.6
-
46
-
-
33749068357
-
Dok-7 mutations underlie a neuromuscular junction synaptopathy
-
Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J, Burke G, Fawcett P, Motomura M, et al. (2006) Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 313: 1975-1978.
-
(2006)
Science
, vol.313
, pp. 1975-1978
-
-
Beeson, D.1
Higuchi, O.2
Palace, J.3
Cossins, J.4
Spearman, H.5
Maxwell, S.6
Newsom-Davis, J.7
Burke, G.8
Fawcett, P.9
Motomura, M.10
-
47
-
-
0036893902
-
Limb-girdle myasthenia: Clinical, electrophysiological and morphological features in familial and autoimmune cases
-
Rodolico C, Toscano A, Autunno M, Messina S, Nicolosi C, Aguennouz M, Laura M, Girlanda P, Messina C, Vita G. (2002) Limb-girdle myasthenia: clinical, electrophysiological and morphological features in familial and autoimmune cases. Neuromuscul Disord 12: 964-969.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 964-969
-
-
Rodolico, C.1
Toscano, A.2
Autunno, M.3
Messina, S.4
Nicolosi, C.5
Aguennouz, M.6
Laura, M.7
Girlanda, P.8
Messina, C.9
Vita, G.10
-
48
-
-
33747883025
-
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'
-
Slater CR, Fawcett PR, Walls TJ, Lyons PR, Bailey SJ, Beeson D, Young C, Gardner-Medwin D. (2006) Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain 129: 2061-2076.
-
(2006)
Brain
, vol.129
, pp. 2061-2076
-
-
Slater, C.R.1
Fawcett, P.R.2
Walls, T.J.3
Lyons, P.R.4
Bailey, S.J.5
Beeson, D.6
Young, C.7
Gardner-Medwin, D.8
-
49
-
-
0026668278
-
Chronic limb-girdle myasthenia gravis
-
Oh SJ, Kuruoglu R. (1992) Chronic limb-girdle myasthenia gravis. Neurology 42: 1153-1156.
-
(1992)
Neurology
, vol.42
, pp. 1153-1156
-
-
Oh, S.J.1
Kuruoglu, R.2
-
50
-
-
0029067153
-
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen
-
Vincent A, Newland C, Brueton L, Beeson D, Riemersma S, Huson SM, Newsom-Davis J. (1995) Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Lancet 346: 24-25.
-
(1995)
Lancet
, vol.346
, pp. 24-25
-
-
Vincent, A.1
Newland, C.2
Brueton, L.3
Beeson, D.4
Riemersma, S.5
Huson, S.M.6
Newsom-Davis, J.7
-
51
-
-
33746474597
-
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetycholine receptor fetal gamma subunit
-
Hoffman K, Muller JS, Stricker S, Megarbane A, Rajab A, Linder TH, Cohen M, Chouery E, Adaimy L, Ghanem I, et al. (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetycholine receptor fetal gamma subunit. Am J Hum Genet 79: 303-312.
-
(2006)
Am J Hum Genet
, vol.79
, pp. 303-312
-
-
Hoffman, K.1
Muller, J.S.2
Stricker, S.3
Megarbane, A.4
Rajab, A.5
Linder, T.H.6
Cohen, M.7
Chouery, E.8
Adaimy, L.9
Ghanem, I.10
-
52
-
-
20444402586
-
Quantitative myasthenia gravis score: Assessmentof responsiveness and longitudinal validity
-
Bedlack RS, Simel DL, Bosworth H, Samsa G, Tucker-Lipscomb B, Sanders DB. (2005) Quantitative myasthenia gravis score: Assessment of responsiveness and longitudinal validity. Neurology 64: 1968-1970.
-
(2005)
Neurology
, vol.64
, pp. 1968-1970
-
-
Bedlack, R.S.1
Simel, D.L.2
Bosworth, H.3
Samsa, G.4
Tucker-Lipscomb, B.5
Sanders, D.B.6
-
53
-
-
33750392152
-
How accurate is spirometry at predicting restrictive pulmonary impairment in children with myasthenia gravis
-
Zielonka T, Kostera-Pruszczyk A, Ryniewicz B, Korczynski P, Szyluk B. (2006) How accurate is spirometry at predicting restrictive pulmonary impairment in children with myasthenia gravis. J Physiol Pharmacol 57 (Suppl 4): 409-416.
-
(2006)
J Physiol Pharmacol
, vol.57
, Issue.SUPPL. 4
, pp. 409-416
-
-
Zielonka, T.1
Kostera-Pruszczyk, A.2
Ryniewicz, B.3
Korczynski, P.4
Szyluk, B.5
-
54
-
-
0038476135
-
Treatment of slow-channel congenital myasthenic syndrome with fluoxetine
-
Harper CM, Fukodome T, Engel AG. (2003) Treatment of slow-channel congenital myasthenic syndrome with fluoxetine. Neurology 60: 1710-1713.
-
(2003)
Neurology
, vol.60
, pp. 1710-1713
-
-
Harper, C.M.1
Fukodome, T.2
Engel, A.G.3
-
55
-
-
33646585179
-
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
-
Colomer J, Muller JS, Vernet A, Nascimento A, Pons M, Gonzalez V, Abicht A, Lochmuller H. (2006) Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine. Neuromuscul Disord 16: 329-333.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 329-333
-
-
Colomer, J.1
Muller, J.S.2
Vernet, A.3
Nascimento, A.4
Pons, M.5
Gonzalez, V.6
Abicht, A.7
Lochmuller, H.8
-
56
-
-
0029827473
-
3,4-diaminopyridine in childhood myasthenia: Double-blind, placebo-controlled trial
-
Anlar B, Varli K, Ozdirim E, Ertan M. (1996) 3,4-diaminopyridine in childhood myasthenia: Double-blind, placebo-controlled trial. J Child Neurol 11: 458-461.
-
(1996)
J Child Neurol
, vol.11
, pp. 458-461
-
-
Anlar, B.1
Varli, K.2
Ozdirim, E.3
Ertan, M.4
|