-
1
-
-
33646066147
-
-
St. Paul,MN: The American Academy of Neurology, Accessed February 12, 2012. Published 2004
-
American Academy of Neurology. Clinical Practice Guidelines Process Manual, 2004 ed. St. Paul,MN: The American Academy of Neurology; 2004. Available at: https://www. aan.com/Guidelines/Home/Development. Accessed February 12, 2012. Published 2004.
-
(2004)
Clinical Practice Guidelines Process Manual, 2004 Ed
-
-
-
2
-
-
33646066147
-
-
American Academy of Neurology, St. Paul,MN: The American Academy of Neurology, Accessed February 12, 2012. Published August 2011
-
American Academy of Neurology. Clinical Practice Guidelines Process Manual, 2011 ed. St. Paul,MN: The American Academy of Neurology; 2011. Available at: https://www. aan.com/Guidelines/Home/Development. Accessed February 12, 2012. Published August 2011.
-
(2011)
Clinical Practice Guidelines Process Manual, 2011 Ed
-
-
-
4
-
-
0030022392
-
Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy
-
Mostacciuolo ML, Miorin M, Martinello F, Angelini C, Perini P, Trevisan CP. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Hum Genet 1996;97:277-279.
-
(1996)
Hum Genet
, vol.97
, pp. 277-279
-
-
Mostacciuolo, M.L.1
Miorin, M.2
Martinello, F.3
Angelini, C.4
Perini, P.5
Trevisan, C.P.6
-
5
-
-
0033989832
-
Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden
-
Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord 2000;10:1-9.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 1-9
-
-
Darin, N.1
Tulinius, M.2
-
6
-
-
84895794868
-
Diagnostic approach to the congenital muscular dystrophies
-
Bonnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014;24:289-311.
-
(2014)
Neuromuscul Disord
, vol.24
, pp. 289-311
-
-
Bonnemann, C.G.1
Wang, C.H.2
Quijano-Roy, S.3
-
7
-
-
79960101359
-
The collagen VI-related myopathies: Muscle meets its matrix
-
Bonnemann CG. The collagen VI-related myopathies: muscle meets its matrix. Nat Rev Neurol 2011;7:379-390.
-
(2011)
Nat Rev Neurol
, vol.7
, pp. 379-390
-
-
Bonnemann, C.G.1
-
8
-
-
79954517898
-
The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy
-
Bonnemann CG. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy. Handb Clin Neurol 2011;101:81-96.
-
(2011)
Handb Clin Neurol
, vol.101
, pp. 81-96
-
-
Bonnemann, C.G.1
-
9
-
-
0019471880
-
Congenital progressive muscular dystrophy of the Fukuyama type: Clinical, genetic and pathological considerations
-
Fukuyama Y, Osawa M, Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type: clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
-
(1981)
Brain Dev
, vol.3
, pp. 1-29
-
-
Fukuyama, Y.1
Osawa, M.2
Suzuki, H.3
-
10
-
-
84866063186
-
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
-
Manzini MC, Tambunan DE, Hill RS, et al. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet 2012;91:541-547.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 541-547
-
-
Manzini, M.C.1
Tambunan, D.E.2
Hill, R.S.3
-
11
-
-
84870935092
-
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly
-
Vuillaumier-Barrot S, Bouchet-Saraphin C, Chelbi M, et al. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet 2012;91:1135-1143.
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1135-1143
-
-
Vuillaumier-Barrot, S.1
Bouchet-Saraphin, C.2
Chelbi, M.3
-
12
-
-
84876414078
-
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan
-
Stevens E, Carss KJ, Cirak S, et al. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet 2013;92:354-365.
-
(2013)
Am J Hum Genet
, vol.92
, pp. 354-365
-
-
Stevens, E.1
Carss, K.J.2
Cirak, S.3
-
13
-
-
84876664165
-
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry
-
Jae LT, Raaben M, Riemersma M, et al. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science 2013;340:479-483.
-
(2013)
Science
, vol.340
, pp. 479-483
-
-
Jae, L.T.1
Raaben, M.2
Riemersma, M.3
-
14
-
-
84875953109
-
Missense mutations in b-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome
-
Buysse K, Riemersma M, Powell G, et al. Missense mutations in b-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet 2013; 22:1746-1754.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 1746-1754
-
-
Buysse, K.1
Riemersma, M.2
Powell, G.3
-
15
-
-
84880285119
-
Mutations in GDPmannose pyrophosphorylase B cause congenital and limbgirdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan
-
Carss KJ, Stevens E, Foley AR, et al. Mutations in GDPmannose pyrophosphorylase B cause congenital and limbgirdle muscular dystrophies associated with hypoglycosylation of a-dystroglycan. Am J Hum Genet 2013;93:29-41.
-
(2013)
Am J Hum Genet
, vol.93
, pp. 29-41
-
-
Carss, K.J.1
Stevens, E.2
Foley, A.R.3
-
16
-
-
79952391340
-
A dystroglycan mutation associated with limb-girdle muscular dystrophy
-
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, et al. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 2011;364:939-946.
-
(2011)
N Engl J Med
, vol.364
, pp. 939-946
-
-
Hara, Y.1
Balci-Hayta, B.2
Yoshida-Moriguchi, T.3
-
17
-
-
3142735728
-
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy
-
Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A 2004;127A:54-57.
-
(2004)
Am J Med Genet A
, vol.127 A
, pp. 54-57
-
-
Kato, R.1
Kawamura, J.2
Sugawara, H.3
Niikawa, N.4
Matsumoto, N.5
-
18
-
-
67049155979
-
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families
-
Chang W, Winder TL, LeDuc CA, et al. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn 2009;29:560-569.
-
(2009)
Prenat Diagn
, vol.29
, pp. 560-569
-
-
Chang, W.1
Winder, T.L.2
LeDuc, C.A.3
-
19
-
-
20144388364
-
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene
-
Balci B, Uyanik G, Dincer P, et al. An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. Neuromuscul Disord 2005;15:271-275.
-
(2005)
Neuromuscul Disord
, vol.15
, pp. 271-275
-
-
Balci, B.1
Uyanik, G.2
Dincer, P.3
-
20
-
-
0028980027
-
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11:216-218.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
-
21
-
-
64449083369
-
Merosin-deficient congenital muscular dystrophy in Korea
-
Chae JH, Lee JS, Hwang H, et al.Merosin-deficient congenital muscular dystrophy in Korea. Brain Dev 2009;31:341-346.
-
(2009)
Brain Dev
, vol.31
, pp. 341-346
-
-
Chae, J.H.1
Lee, J.S.2
Hwang, H.3
-
22
-
-
77955281904
-
Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea
-
Lim BC, Ki CS, Kim JW, et al. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Neuromuscul Disord 2010; 20:524-530.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 524-530
-
-
Lim, B.C.1
Ki, C.S.2
Kim, J.W.3
-
23
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
Camacho Vanegas O, Bertini E, Zhang RZ, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001; 98:7516-7521.
-
(2001)
Proc Natl Acad Sci USA
, vol.98
, pp. 7516-7521
-
-
Camacho Vanegas, O.1
Bertini, E.2
Zhang, R.Z.3
-
24
-
-
0019083290
-
Ullrich syndrome: A hypotonic disorder of early infancy, difficult to define as an entity
-
Aparicio Meix JM, Pascual-Castroviejo I. Ullrich syndrome: a hypotonic disorder of early infancy, difficult to define as an entity. An Esp Pediatr 1980;13:979-984.
-
(1980)
An Esp Pediatr
, vol.13
, pp. 979-984
-
-
Aparicio Meix, J.M.1
Pascual-Castroviejo, I.2
-
25
-
-
0029806196
-
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry
-
Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 1996;155:968-976.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 968-976
-
-
Herrmann, R.1
Straub, V.2
Meyer, K.3
Kahn, T.4
Wagner, M.5
Voit, T.6
-
26
-
-
34848837334
-
Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
-
Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007;130: 2725-2735.
-
(2007)
Brain
, vol.130
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
-
27
-
-
15944415302
-
POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
-
Diesen C, Saarinen A, Pihko H, et al. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet 2004;41:e115.
-
(2004)
J Med Genet
, vol.41
, pp. e115
-
-
Diesen, C.1
Saarinen, A.2
Pihko, H.3
-
28
-
-
0033986951
-
Muscle membraneskeleton protein changes and histopathological characterization of muscle-eye-brain disease
-
Auranen M, Rapola J, Pihko H, et al. Muscle membraneskeleton protein changes and histopathological characterization of muscle-eye-brain disease. Neuromuscul Disord 2000;10:16-23.
-
(2000)
Neuromuscul Disord
, vol.10
, pp. 16-23
-
-
Auranen, M.1
Rapola, J.2
Pihko, H.3
-
29
-
-
67650865957
-
A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families
-
Cotarelo RP, Fano O, Raducu M, et al. A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. Clin Genet 2009;76:108-112.
-
(2009)
Clin Genet
, vol.76
, pp. 108-112
-
-
Cotarelo, R.P.1
Fano, O.2
Raducu, M.3
-
30
-
-
84860735423
-
Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy
-
Menezes MP, Waddell LB, Evesson FJ, et al. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology 2012;78:1258-1263.
-
(2012)
Neurology
, vol.78
, pp. 1258-1263
-
-
Menezes, M.P.1
Waddell, L.B.2
Evesson, F.J.3
-
31
-
-
0031906545
-
Congenital muscular dystrophy: Use of brain MR imaging findings to predict merosin deficiency
-
Lamer S, Carlier RY, Pinard JM, et al. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 1998;206:811-816.
-
(1998)
Radiology
, vol.206
, pp. 811-816
-
-
Lamer, S.1
Carlier, R.Y.2
Pinard, J.M.3
-
32
-
-
0028109366
-
Cerebellar MR in Fukuyama congenital muscular dystrophy: Polymicrogyria with cystic lesions
-
Aida N, Yagishita A, Takada K, Katsumata Y. Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR Am J Neuroradiol 1994;15:1755-1759.
-
(1994)
AJNR Am J Neuroradiol
, vol.15
, pp. 1755-1759
-
-
Aida, N.1
Yagishita, A.2
Takada, K.3
Katsumata, Y.4
-
33
-
-
77955084637
-
Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies
-
Bindu PS, Gayathri N, Bharath RD, Mahadevan A, Sinha S, Taly AB. Pattern recognition on brain magnetic resonance imaging in alpha dystroglycanopathies. Neurol India 2010;58:460-465.
-
(2010)
Neurol India
, vol.58
, pp. 460-465
-
-
Bindu, P.S.1
Gayathri, N.2
Bharath, R.D.3
Mahadevan, A.4
Sinha, S.5
Taly, A.B.6
-
34
-
-
34250352222
-
Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood
-
Brockmann K, Becker P, Schreiber G, Neubert K, Brunner E, Bonnemann C. Sensitivity and specificity of qualitative muscle ultrasound in assessment of suspected neuromuscular disease in childhood. Neuromuscul Disord 2007;17:517-523.
-
(2007)
Neuromuscul Disord
, vol.17
, pp. 517-523
-
-
Brockmann, K.1
Becker, P.2
Schreiber, G.3
Neubert, K.4
Brunner, E.5
Bonnemann, C.6
-
35
-
-
0037245311
-
Muscle ultrasonography and electromyography correlation for evaluation of floppy infants
-
Aydinli N, Baslo B, Caliskan M, Ertas M, Ozmen M. Muscle ultrasonography and electromyography correlation for evaluation of floppy infants. Brain Dev 2003;25:22-24.
-
(2003)
Brain Dev
, vol.25
, pp. 22-24
-
-
Aydinli, N.1
Baslo, B.2
Caliskan, M.3
Ertas, M.4
Ozmen, M.5
-
36
-
-
77949393294
-
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine
-
Mercuri E, Clements E, Offiah A, et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 2010;67: 201-208.
-
(2010)
Ann Neurol
, vol.67
, pp. 201-208
-
-
Mercuri, E.1
Clements, E.2
Offiah, A.3
-
37
-
-
77955271380
-
Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern
-
Deconinck N, Dion E, Ben Yaou R, et al. Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromuscul Disord 2010;20:517-523.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 517-523
-
-
Deconinck, N.1
Dion, E.2
Ben Yaou, R.3
-
38
-
-
0029102340
-
Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy
-
Hayashi YK, Koga R, Tsukahara T, et al. Deficiency of laminin alpha 2-chain mRNA in muscle in a patient with merosin-negative congenital muscular dystrophy. Muscle Nerve 1995;18:1027-1030.
-
(1995)
Muscle Nerve
, vol.18
, pp. 1027-1030
-
-
Hayashi, Y.K.1
Koga, R.2
Tsukahara, T.3
-
39
-
-
27144438760
-
Dystrophin-glycoproteins associated in congenital muscular dystrophy: Immunohistochemical analysis of 59 Brazilian cases
-
Ferreira LG, Marie SK, Liu EC, et al. Dystrophin-glycoproteins associated in congenital muscular dystrophy: immunohistochemical analysis of 59 Brazilian cases. Arq Neuropsiquiatr 2005;63:791-800.
-
(2005)
Arq Neuropsiquiatr
, vol.63
, pp. 791-800
-
-
Ferreira, L.G.1
Marie, S.K.2
Liu, E.C.3
-
40
-
-
77950960625
-
Genotypephenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
-
Geranmayeh F, Clement E, Feng LH, et al. Genotypephenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. Neuromuscul Disord 2010;20:241-250.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 241-250
-
-
Geranmayeh, F.1
Clement, E.2
Feng, L.H.3
|