-
1
-
-
0033402111
-
Facioscapulohumeral muscular dystrophy
-
DOI 10.1097/00019052-199910000-00003
-
R.B. Fitzsimons Facioscapulohumeral muscular dystrophy Current Opinion in Neurology 12 1999 501 511 (Pubitemid 30028609)
-
(1999)
Current Opinion in Neurology
, vol.12
, Issue.5
, pp. 501-511
-
-
Fitzsimons, R.B.1
-
2
-
-
0026922062
-
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy
-
C. Wijmenga, J.E. Hewitt, L.A. Sandkuijl, L.H. Clark, T.J. Wright, and H.G. Dauwerse Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy Nature Genetics 2 1992 26 30
-
(1992)
Nature Genetics
, vol.2
, pp. 26-30
-
-
Wijmenga, C.1
Hewitt, J.E.2
Sandkuijl, L.A.3
Clark, L.H.4
Wright, T.J.5
Dauwerse, H.G.6
-
3
-
-
0027744223
-
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit
-
J.C. Van Deutekom, C. Wijmenga, E.A. Van Tienhoven, A.M. Gruter, J.E. Hewitt, and G.W. Padberg FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit Human Molecular Genetics 12 1993 2037 2042 (Pubitemid 24003395)
-
(1993)
Human Molecular Genetics
, vol.2
, Issue.12
, pp. 2037-2042
-
-
Van Deutekom, J.C.T.1
Wijmenga, C.2
Van Tienhoven, E.A.E.3
Gruter, A.-M.4
Hewitt, J.E.5
Padberg, G.W.6
Van Ommen, G.-J.B.7
Hofker, M.H.8
Frants, R.R.9
-
5
-
-
0028324861
-
Facioscapulohumeral muscular dystrophy in early childhood
-
O.F. Brouwer, G.W. Padberg, C. Wijmenga, and R.R. Frants Facioscapulohumeral muscular dystrophy in early childhood Archives of Neurology 51 1994 387 394 (Pubitemid 24110522)
-
(1994)
Archives of Neurology
, vol.51
, Issue.4
, pp. 387-394
-
-
Brouwer, O.F.1
Padberg, G.W.2
Wijmenga, C.3
Frants, R.R.4
-
6
-
-
0028927652
-
Early onset facioscapulohumeral muscular dystrophy
-
O.F. Brouwer, G.W. Padberg, E. Bakker, C. Wijmenga, and R.R. Frants Early onset facioscapulohumeral muscular dystrophy Muscle and Nerve 2 1995 S67 S72
-
(1995)
Muscle and Nerve
, vol.2
-
-
Brouwer, O.F.1
Padberg, G.W.2
Bakker, E.3
Wijmenga, C.4
Frants, R.R.5
-
7
-
-
0028930856
-
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy
-
G.W. Padberg, O.F. Brouwer, and R.J.W. de Keizer On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy Muscle and Nerve 2 1995 S73 S80
-
(1995)
Muscle and Nerve
, vol.2
-
-
Padberg, G.W.1
Brouwer, O.F.2
De Keizer, R.J.W.3
-
8
-
-
0036226446
-
Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy
-
DOI 10.1016/S0960-8966(02)00004-4, PII S0960896602000044
-
M.T. Rogers, F. Zhao, P.S. Harper, and D. Stephens Absence of hearing impairment in adult onset facioscapulohumeral muscular dystrophy Neuromuscular Disorders 12 2002 358 365 (Pubitemid 34327210)
-
(2002)
Neuromuscular Disorders
, vol.12
, Issue.4
, pp. 358-365
-
-
Rogers, M.T.1
Zhao, F.2
Harper, P.S.3
Stephens, D.4
-
9
-
-
37249009052
-
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
-
DOI 10.1159/000107431
-
C.P. Trevisan, E. Pastorello, M. Ermani, C. Angelini, G. Tomelleri, and P. Tonin Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function Audiology and Neurotology 13 2008 1 6 (Pubitemid 350275255)
-
(2008)
Audiology and Neurotology
, vol.13
, Issue.1
, pp. 1-6
-
-
Trevisan, C.P.1
Pastorello, E.2
Ermani, M.3
Angelini, C.4
Tomelleri, G.5
Tonin, P.6
Mongini, T.7
Palmucci, L.8
Galluzzi, G.9
Tupler, R.G.10
Marioni, G.11
Rimini, A.12
-
10
-
-
56049098801
-
Facioscapulohumeral muscular dystrophy: Hearing loss and other atypical features of patients with large 4q35 deletions
-
C.P. Trevisan, E. Pastorello, G. Tomelleri, L. Vercelli, C. Bruno, and S. Scapolan Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions European Journal of Neurology 15 12 2008 Dec 1353 1358
-
(2008)
European Journal of Neurology
, vol.15
, Issue.12
, pp. 1353-1358
-
-
Trevisan, C.P.1
Pastorello, E.2
Tomelleri, G.3
Vercelli, L.4
Bruno, C.5
Scapolan, S.6
-
11
-
-
0018563218
-
Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy
-
M. Segawa, Y. Nomura, K. Hachimori, N. Shinoyama, A. Hosaka, and Y. Mizuno Fukuyama type congenital muscular dystrophy as a natural model of childhood epilepsy Brain and Development 1 2 1979 113 119 (Pubitemid 10122781)
-
(1979)
Brain and Development
, vol.1
, Issue.2
, pp. 113-119
-
-
Segawa, M.1
Nomura, Y.2
Hachimori, K.3
-
13
-
-
62149083334
-
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B
-
C.Y. Tsao, and J.R. Mendell Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B Journal of Child Neurology 24 3 2009 Mar 346 348
-
(2009)
Journal of Child Neurology
, vol.24
, Issue.3
, pp. 346-348
-
-
Tsao, C.Y.1
Mendell, J.R.2
-
14
-
-
0028925370
-
Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35
-
J.H. Lee, K. Goto, C. Matsuda, and K. Arahata Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35 Muscle and Nerve 2 1995 S6 S13
-
(1995)
Muscle and Nerve
, vol.2
-
-
Lee, J.H.1
Goto, K.2
Matsuda, C.3
Arahata, K.4
-
15
-
-
0037047439
-
Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle
-
D. Gabellini, M.R. Green, and R. Tupler Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle Cell 110 2002 339 348
-
(2002)
Cell
, vol.110
, pp. 339-348
-
-
Gabellini, D.1
Green, M.R.2
Tupler, R.3
-
16
-
-
0038458638
-
D4F104S1 deletion in facioscapulohumeral muscular dystrophy: Phenotype, size, and detection
-
R.J. Lemmers, M. Osborn, T. Haaf, M. Rogers, R.R. Frants, and G.W. Padberg D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection Neurology 61 2003 178 183 (Pubitemid 36875297)
-
(2003)
Neurology
, vol.61
, Issue.2
, pp. 178-183
-
-
Lemmers, R.J.L.F.1
Osborn, M.2
Haaf, T.3
Rogers, M.4
Frants, R.R.5
Padberg, G.W.6
Cooper, D.N.7
Van Der Maarel, S.M.8
Upadhyaya, M.9
-
17
-
-
0029984970
-
Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY group
-
R. Tawil, J. Forrester, R.C. Griggs, J. Mendell, J. Kissel, and M. McDermott Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY group Annals of Neurology 39 1996 744 748
-
(1996)
Annals of Neurology
, vol.39
, pp. 744-748
-
-
Tawil, R.1
Forrester, J.2
Griggs, R.C.3
Mendell, J.4
Kissel, J.5
McDermott, M.6
-
18
-
-
33745177796
-
Facioscapulohumeral muscular dystrophy can be a cause isolated childhood cognitive dysfunction
-
DOI 10.2310/7010.2006.00054
-
L.D. Hobson-Webb, and J.B. Caress Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction Journal of Child Neurology 21 3 2006 Mar 252 253 (Pubitemid 43891154)
-
(2006)
Journal of Child Neurology
, vol.21
, Issue.3
, pp. 252-253
-
-
Hobson-Webb, L.D.1
Caress, J.B.2
-
19
-
-
0025887625
-
A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality
-
C. Akiyama, H. Suzuki, and I. Nonaka A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality No to Hattatsu 23 1991 395 399
-
(1991)
No to Hattatsu
, vol.23
, pp. 395-399
-
-
Akiyama, C.1
Suzuki, H.2
Nonaka, I.3
-
20
-
-
0031777331
-
Epilepsy and mental retardation in a subset of early onset 4q35- facioscapulohumeral muscular dystrophy
-
M. Funakoshi, K. Goto, and K. Arahata Epilepsy and mental retardation in a subset of early onset 4q35-facioscapulohumeral muscular dystrophy Neurology 50 1998 1791 1794 (Pubitemid 28283253)
-
(1998)
Neurology
, vol.50
, Issue.6
, pp. 1791-1794
-
-
Funakoshi, M.1
Goto, K.2
Arahata, K.3
-
21
-
-
0031670986
-
Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy
-
DOI 10.1055/s-2007-973568
-
K. Miura, T. Kumagai, A. Matsumoto, E. Iriyama, K. Watanabe, and K. Goto Two cases of chromosome 4q35-linked early onset facioscapulohumeral muscular dystrophy with mental retardation and epilepsy Neuropediatrics 29 1998 239 241 (Pubitemid 28468217)
-
(1998)
Neuropediatrics
, vol.29
, Issue.5
, pp. 239-241
-
-
Miura, K.1
Kumagai, T.2
Matsumoto, A.3
Iriyama, E.4
Watanabe, K.5
Goto, K.6
Arahata, K.7
-
22
-
-
33847100503
-
Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy
-
DOI 10.1016/j.braindev.2006.08.012, PII S0387760406002014
-
Y. Saito, S. Miyashita, A. Yokoyama, H. Komaki, A. Seki, and Y. Maegaki Facioscapulohumeral muscular dystrophy with severe mental retardation and epilepsy Brain and Development 29 4 2007 May 231 233 (Pubitemid 46283289)
-
(2007)
Brain and Development
, vol.29
, Issue.4
, pp. 231-233
-
-
Saito, Y.1
Miyashita, S.2
Yokoyama, A.3
Komaki, H.4
Seki, A.5
Maegaki, Y.6
Ohno, K.7
-
23
-
-
0024317220
-
Commission on classification and terminology of the international league against epilepsy
-
Proposal for revised classification of epilepsies and epileptic syndromes
-
Proposal for revised classification of epilepsies and epileptic syndromes Commission on classification and terminology of the international league against epilepsy Epilepsia 30 1989 339 399
-
(1989)
Epilepsia
, vol.30
, pp. 339-399
-
-
-
24
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: Report of the ILAE task force on classification and terminology
-
DOI 10.1046/j.1528-1157.2001.10401.x
-
J. Engel Jr. International League Against Epilepsy (ILAE) A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE task force on classification and terminology Epilepsia 42 2001 796 803 (Pubitemid 32605946)
-
(2001)
Epilepsia
, vol.42
, Issue.6
, pp. 796-803
-
-
Engel Jr., J.1
-
25
-
-
0027939537
-
De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1)
-
P.E. Jardine, M.C. Koch, P.W. Lunt, J. Maynard, K.D. Bathke, and P.S. Harper De novo facioscapulohumeral muscular dystrophy defined by DNA probe p13E-11 (D4F104S1) Archives of Disease in Childhood 71 1994 221 227 (Pubitemid 24298267)
-
(1994)
Archives of Disease in Childhood
, vol.71
, Issue.3
, pp. 221-227
-
-
Jardine, P.E.1
Koch, M.C.2
Lunt, P.W.3
Maynard, J.4
Bathke, K.D.5
Harper, P.S.6
Upadhyaya, M.7
-
26
-
-
33748573261
-
Severe phenotype in infantile facioscapulohumeral muscular dystrophy
-
DOI 10.1016/j.nmd.2006.06.008, PII S0960896606004366
-
L. Klinge, M. Eagle, I.D. Haggerty, C.E. Roberts, V. Straub, and K.M. Bushby Severe phenotype in infantile facioscapulohumeral muscular dystrophy Neuromuscular Disorders 16 2006 553 558 (Pubitemid 44374320)
-
(2006)
Neuromuscular Disorders
, vol.16
, Issue.9-10
, pp. 553-558
-
-
Klinge, L.1
Eagle, M.2
Haggerty, I.D.3
Roberts, C.E.4
Straub, V.5
Bushby, K.M.6
-
27
-
-
37249009052
-
Facioscapulohumeral muscular dystrophy: A multicenter study on hearing function
-
DOI 10.1159/000107431
-
C.P. Trevisan, E. Pastorello, and M. Ermani Facioscapulohumeral muscular dystrophy: a multicenter study on hearing function Audiology and Neurotology 13 2008 1 6 (Pubitemid 350275255)
-
(2008)
Audiology and Neurotology
, vol.13
, Issue.1
, pp. 1-6
-
-
Trevisan, C.P.1
Pastorello, E.2
Ermani, M.3
Angelini, C.4
Tomelleri, G.5
Tonin, P.6
Mongini, T.7
Palmucci, L.8
Galluzzi, G.9
Tupler, R.G.10
Marioni, G.11
Rimini, A.12
-
28
-
-
1642377315
-
Molecular basis of facioscapulohumeral muscular dystrophy
-
DOI 10.1007/s00018-003-3285-3
-
R. Tupler, and D. Gabellini Molecular basis of facioscapulohumeral muscular dystrophy Cellular and Molecular Life Sciences 61 2004 557 566 (Pubitemid 38372910)
-
(2004)
Cellular and Molecular Life Sciences
, vol.61
, Issue.5
, pp. 557-566
-
-
Tupler, R.1
Gabellini, D.2
-
29
-
-
0032978703
-
Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype
-
DOI 10.1002/1531-82 49(199906)45:6<75 1::AID-ANA 9>3.0.CO;2-M
-
E. Ricci, G. Galluzzi, and G. Deidda Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype Annals of Neurology 45 1999 751 757 (Pubitemid 29260752)
-
(1999)
Annals of Neurology
, vol.45
, Issue.6
, pp. 751-757
-
-
Ricci, E.1
Galluzzi, G.2
Deidda, G.3
Cacurri, S.4
Colantoni, L.5
Merico, B.6
Piazzo, N.7
Servidei, S.8
Vigneti, E.9
Pasceri, V.10
Silvestri, G.11
Mirabella, M.12
Mangiola, F.13
Tonali, P.14
Felicetti, L.15
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