-
1
-
-
0000180227
-
Eine neue X-chromosomale muskeldystrophie
-
Becker PE, Kiener F. Eine neue X-chromosomale muskeldystrophie. Arch Psychiat-Z Neurol 1955; 193: 427-448.
-
(1955)
Arch Psychiat-Z Neurol
, vol.193
, pp. 427-448
-
-
Becker, P.E.1
Kiener, F.2
-
2
-
-
0032849889
-
66th/67th ENMC Sponsored International Workshop: The Limb-Girdle Muscular Dystrophies 26-28 March 1999, Naarden, The Netherlands
-
DOI 10.1016/S0960-8966(99)00064-4, PII S0960896699000644
-
Beckmann JS, Brown RH, Muntoni F, Urtizberea A, Bonnemann C, Bushby KM. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord 1999; 9: 436-445. (Pubitemid 29454608)
-
(1999)
Neuromuscular Disorders
, vol.9
, Issue.6-7
, pp. 436-445
-
-
Beckmann, J.S.1
Brown, R.H.2
Muntoni, F.3
Urtizberea, A.4
Bonnemann, C.5
Bushby, K.M.D.6
-
3
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
DOI 10.1002/mus.880060702
-
Ben Hamida M, Fardeau M, Attia N. Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983; 6: 469-480. (Pubitemid 13005594)
-
(1983)
Muscle and Nerve
, vol.6
, Issue.7
, pp. 469-480
-
-
Hamida, M.B.1
Fardeau, M.2
Attia, N.3
-
4
-
-
0018992719
-
Dystrophie musculaire progressive de type Duchenne en Tunisie. A propos de 13 familles et 31 cas d'une forme en apparence récessive autosomique
-
Ben Hamida M, Marrakchi D. Dystrophie musculaire progressive de type Duchenne en Tunisie. A propos de 13 familles et 31 cas d'une forme en apparence récessive autosomique. J Génét Hum 1980; 28: 1-9.
-
(1980)
J Génét Hum
, vol.28
, pp. 1-9
-
-
Ben Hamida, M.1
Marrakchi, D.2
-
5
-
-
0033865686
-
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
-
DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
-
Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000; 48: 170-180. (Pubitemid 30617035)
-
(2000)
Annals of Neurology
, vol.48
, Issue.2
, pp. 170-180
-
-
Bonne, G.1
Mercuri, E.2
Muchir, A.3
Urtizberea, A.4
Becane, H.M.5
Recan, D.6
Merlini, L.7
Wehnert, M.8
Boor, R.9
Reuner, U.10
Vorgerd, M.11
Wicklein, E.M.12
Eymard, B.13
Duboc, D.14
Penisson-Besnier, I.15
Cuisset, J.M.16
Ferrer, X.17
Desguerre, I.18
Lacombe, D.19
Bushby, K.20
Pollitt, C.21
Toniolo, D.22
Fardeau, M.23
Schwartz, K.24
Muntoni, F.25
more..
-
6
-
-
0035212037
-
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin deficiency and abnormal glycosylation of α-dystroglycan
-
DOI 10.1086/324412
-
Brockington M, Blake DJ, Prandini P, Brown SC, Torelli S, Benson MA, Ponting CP, Estournet B, Romero NB, Mercuri E, Voit T, Sewry CA, Guicheney P, Muntoni F. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001; 69: 1198-1209. (Pubitemid 33124201)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.6
, pp. 1198-1209
-
-
Brockington, M.1
Blake, D.J.2
Prandini, P.3
Brown, S.C.4
Torelli, S.5
Benson, M.A.6
Ponting, C.P.7
Estournet, B.8
Romero, N.B.9
Mercuri, E.10
Voit, T.11
Sewry, C.A.12
Guicheney, P.13
Muntoni, F.14
-
7
-
-
0032855394
-
Making sense of the limb-girdle muscular dystrophies
-
DOI 10.1093/brain/122.8.1403
-
Bushby KMD. Making sense of the limb-girdle muscular dystrophies. Brain 1999; 122: 1403-1420. (Pubitemid 29374120)
-
(1999)
Brain
, vol.122
, Issue.8
, pp. 1403-1420
-
-
Bushby, K.M.D.1
-
8
-
-
0029334512
-
st ENMC InternationalWorkshops Naarden The Netherlands held 6-8 January 1995
-
st ENMC InternationalWorkshops, Naarden, The Netherlands, held 6-8 January 1995. Neuromuscul Disord 1995; 5: 337-343.
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 337-343
-
-
Bushby, K.M.D.1
Beckmann, J.S.2
-
9
-
-
0035912809
-
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
-
DOI 10.1073/pnas.121027598
-
Camacho Vanegas O, Bertini E, Zhang RZ, Petrini S, Minosse C, Sabatelli P, Giusti B, Chu ML, Pepe G. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci U S A 2001; 98: 7516-7521. (Pubitemid 32567980)
-
(2001)
Proceedings of the National Academy of Sciences of the United States of America
, vol.98
, Issue.13
, pp. 7516-7521
-
-
Vanegas, O.C.1
Bertini, E.2
Zhang, R.-Z.3
Petrini, S.4
Minosse, C.5
Sabatelli, P.6
Giusti, B.7
Chu, M.-L.8
Pepe, G.9
-
10
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
DOI 10.1038/338259a0
-
Campbell KP, Kahl SD. Association of dystrophin and an integral membrane glycoprotein. Nature 1989; 338: 259-262. (Pubitemid 19086928)
-
(1989)
Nature
, vol.338
, Issue.6212
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
12
-
-
0002639380
-
Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérosique
-
179-209, 305-321, 421-443, 552-588
-
Duchenne de Boulogne GBA. Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclérosique. Arch Gen Med 1868; 11: 5-25, 179-209, 305-321, 421-443, 552-588.
-
(1868)
Arch Gen Med
, vol.11
, pp. 5-25
-
-
Duchenne De Boulogne, G.B.A.1
-
13
-
-
0037099030
-
The dystrophin-associated protein complex
-
Ehmsen J, Poon E, Davies K. The dystrophin-associated protein complex. J Cell Sci 2002; 115: 2801-2803.
-
(2002)
J Cell Sci
, vol.115
, pp. 2801-2803
-
-
Ehmsen, J.1
Poon, E.2
Davies, K.3
-
15
-
-
33645109684
-
Muskelbefund bei der juvenilen form der Dystrophia muscularis progressiva
-
Erb W. Muskelbefund bei der juvenilen form der Dystrophia muscularis progressiva. Neurol Zbl 1986; 13: 286-295.
-
(1986)
Neurol Zbl
, vol.13
, pp. 286-295
-
-
Erb, W.1
-
16
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991; 66: 1121-1131. (Pubitemid 121001402)
-
(1991)
Cell
, vol.66
, Issue.6
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
17
-
-
0025272250
-
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
-
Ervasti JM, Ohlendieck K, Kahl SD, et al. Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle. Nature 1990; 345: 315-319.
-
(1990)
Nature
, vol.345
, pp. 315-319
-
-
Ervasti, J.M.1
Ohlendieck, K.2
Kahl, S.D.3
-
18
-
-
0021839541
-
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
-
Francke U, Ochs HD, de Martinville B, et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome. Am J Hum Genet 1985; 37: 250-267. (Pubitemid 15053160)
-
(1985)
American Journal of Human Genetics
, vol.37
, Issue.2
, pp. 250-267
-
-
Francke, U.1
Ochs, H.D.2
De Martinville, B.3
-
19
-
-
23644442927
-
Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I
-
DOI 10.1038/sj.ejhg.5201436
-
Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR. Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I. Eur J Hum Genet 2005; 13: 978-982. (Pubitemid 41131747)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.8
, pp. 978-982
-
-
Frosk, P.1
Del Bigio, M.R.2
Wrogemann, K.3
Greenberg, C.R.4
-
20
-
-
11344273900
-
Molecular and muscle pathology in a series of caveolinopathy patients
-
DOI 10.1002/humu.20119
-
Fulizio L, Nascimbeni AC, Fanin M, Piluso G, Politano L, Nigro V, Angelini C. Molecular and muscle pathology in a series of caveolinopathy patients. Hum Mutat 2005; 25: 82-89. (Pubitemid 40075917)
-
(2005)
Human Mutation
, vol.25
, Issue.1
, pp. 82-89
-
-
Fulizio, L.1
Nascimbeni, A.C.2
Fanin, M.3
Piluso, G.4
Politano, L.5
Nigro, V.6
Angelini, C.7
-
21
-
-
34848837334
-
Refining genotype-phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan
-
DOI 10.1093/brain/awm212
-
Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L, Jimenez-Mallebrera C, Mercuri E, Manzur AY, Kinali M, Torelli S, Brown SC, Sewry CA, Bushby K, Topaloglu H, North K, Abbs S, Muntoni F. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735. (Pubitemid 47511718)
-
(2007)
Brain
, vol.130
, Issue.10
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
Brockington, M.4
Smith, J.5
Talim, B.6
Straub, V.7
Robb, S.8
Quinlivan, R.9
Feng, L.10
Jimenez-Mallebrera, C.11
Mercuri, E.12
Manzur, A.Y.13
Kinali, M.14
Torelli, S.15
Brown, S.C.16
Sewry, C.A.17
Bushby, K.18
Topaloglu, H.19
North, K.20
Abbs, S.21
Muntoni, F.22
more..
-
22
-
-
0022403401
-
Report of the committee on the genetic constitution of the X and Y chromosomes.Human gene mapping 8
-
Goodfellow PN, Davies KE, Ropers HH. Report of the committee on the genetic constitution of the X and Y chromosomes. Human Gene Mapping 8. Cytogenet Cell Genet 1985; 40: 296-352.
-
(1985)
Cytogenet Cell Genet
, vol.40
, pp. 296-352
-
-
Goodfellow, P.N.1
Davies, K.E.2
Ropers, H.H.3
-
23
-
-
84965220279
-
A lecture on myopathy and a distal form
-
Gowers WR. A lecture on myopathy and a distal form. Br Med J 1902; 2: 89.
-
(1902)
Br Med J
, vol.2
, pp. 89
-
-
Gowers, W.R.1
-
24
-
-
38949205725
-
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
-
DOI 10.1002/humu.20642
-
Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 2008; 29: 258-266. (Pubitemid 351240598)
-
(2008)
Human Mutation
, vol.29
, Issue.2
, pp. 258-266
-
-
Guglieri, M.1
Magri, F.2
D'Angelo, M.G.3
Prelle, A.4
Morandi, L.5
Rodolico, C.6
Cagliani, R.7
Mora, M.8
Fortunato, F.9
Bordoni, A.10
Del Bo, R.11
Ghezzi, S.12
Pagliarani, S.13
Lucchiari, S.14
Salani, S.15
Zecca, C.16
Lamperti, C.17
Ronchi, D.18
Aguennouz, M.19
Ciscato, P.20
Di Blasi, C.21
Ruggieri, A.22
Moroni, I.23
Turconi, A.24
Toscano, A.25
Moggio, M.26
Bresolin, N.27
Comi, G.P.28
more..
-
26
-
-
41649083717
-
A refined diagnostic algorithm for Bethlem myopathy
-
DOI 10.1212/01.wnl.0000307749.66438.6d, PII 0000611420080401000008
-
Hicks D, Lampe AK, Barresi R, Charlton R, Fiorillo C, Bonnemann CG, Hudson J, Sutton R, Lochmüller H, Straub V, Bushby K. A refined diagnostic algorithm for Bethlem myopathy. Neurology 2008; 70: 1192-1199. (Pubitemid 351482571)
-
(2008)
Neurology
, vol.70
, Issue.14
, pp. 1192-1199
-
-
Hicks, D.1
Lampe, A.K.2
Barresi, R.3
Charlton, R.4
Fiorillo, C.5
Bonnemann, C.G.6
Hudson, J.7
Sutton, R.8
Lochmuller, H.9
Straub, V.10
Bushby, K.11
-
27
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
-
Hillaire D, Leclerc A, Fauré S, Topaloglu H, Chiannilkulchaï N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet 1994; 3: 1657-1661. (Pubitemid 24295464)
-
(1994)
Human Molecular Genetics
, vol.3
, Issue.9
, pp. 1657-1661
-
-
Hillaire, D.1
Leclerc, A.2
Faure, S.3
Topaloglu, H.4
Chiannilkulchai, N.5
Guicheney, P.6
Grinas, L.7
Legos, P.8
Philpot, J.9
Evangelista, T.10
Routon, M.-C.11
Mayer, M.12
Pellissier, J.-F.13
Estournet, B.14
Barois, A.15
Hentati, F.16
Feingold, N.17
Beckmann, J.S.18
Dubowitz, V.19
Tome, F.M.S.20
Fardeau, M.21
more..
-
28
-
-
0023614188
-
Dystrophin: The protein product of the Duchenne muscular dystrophy locus
-
Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987; 51: 919-928.
-
(1987)
Cell
, vol.51
, pp. 919-928
-
-
Hoffman, E.P.1
Brown, R.H.2
Kunkel, L.M.3
-
29
-
-
0029771617
-
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
-
DOI 10.1038/ng0996-113
-
Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996; 14: 113-115. (Pubitemid 26301559)
-
(1996)
Nature Genetics
, vol.14
, Issue.1
, pp. 113-115
-
-
Jobsis, G.J.1
Keizers, H.2
Vreijling, J.P.3
De Visser, M.4
Speer, M.C.5
Wolterman, R.A.6
Baas, F.7
Bolhuis, P.A.8
-
30
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
DOI 10.1016/0092-8674(87)90504-6
-
Koenig M, Hoffman EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987; 50: 509-517. (Pubitemid 18098338)
-
(1987)
Cell
, vol.50
, Issue.3
, pp. 509-517
-
-
Koening, M.1
Hoffman, E.P.2
Bertelson, C.J.3
Monaco, A.P.4
Feener, C.5
Kunkel, L.M.6
-
31
-
-
0022444372
-
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
-
Kunkel LM and co-authors. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986; 322: 73-77. (Pubitemid 16061511)
-
(1986)
Nature
, vol.322
, Issue.6074
, pp. 73-77
-
-
Kunkel, L.M.1
-
33
-
-
0002845499
-
De la myopathie atrophique progressive (myopathie héré ditaire débutant dans l'enfance par la face sans altération du système nerveux)
-
Landouzy L, Dejerine J. De la myopathie atrophique progressive (myopathie héréditaire, débutant dans l'enfance par la face, sans altération du système nerveux). CR Acad Sci 1884; 98: 53-55.
-
(1884)
CR Acad Sci
, vol.98
, pp. 53-55
-
-
Landouzy, L.1
Dejerine, J.2
-
34
-
-
3142717832
-
Limb-girdle muscular dystrophies - From genetics to molecular pathology
-
DOI 10.1111/j.1365-2990.2004.00555.x
-
Laval SH, Bushby KMD. Limb-girdle muscular dystrophies - from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004; 30: 91-105. (Pubitemid 38499710)
-
(2004)
Neuropathology and Applied Neurobiology
, vol.30
, Issue.2
, pp. 91-105
-
-
Laval, S.H.1
Bushby, K.M.D.2
-
35
-
-
17344365600
-
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
-
DOI 10.1038/1682
-
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998; 20: 31-36. (Pubitemid 28410339)
-
(1998)
Nature Genetics
, vol.20
, Issue.1
, pp. 31-36
-
-
Liu, J.1
Aoki, M.2
Illa, I.3
Wu, C.4
Fardeau, M.5
Angelini, C.6
Serrano, C.7
Andoni Urtizberea, J.8
Hentati, F.9
Hamida, M.B.10
Bohlega, S.11
Culper, E.J.12
Amato, A.A.13
Bossie, K.14
Oeltjen, J.15
Bejaoui, K.16
McKenna-Yasek, D.17
Hosler, B.A.18
Schurr, E.19
Arahata, K.20
De Jong, P.J.21
Brown Jr., R.H.22
more..
-
36
-
-
0037076508
-
Collagen VI involvement in Ullrich syndrome: A clinical, genetic, and immunohistochemical study
-
Mercuri E, Yuva Y, Brown SC, Brockington M, Kinali M, Jungbluth H, Feng L, Sewry CA, Muntoni F. Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study. Neurology 2002; 58: 1354-1359. (Pubitemid 34507161)
-
(2002)
Neurology
, vol.58
, Issue.9
, pp. 1354-1359
-
-
Mercuri, E.1
Yuva, Y.2
Brown, S.C.3
Brockington, M.4
Kinali, M.5
Jungbluth, H.6
Feng, L.7
Sewry, C.A.8
Muntoni, F.9
-
37
-
-
0034646403
-
Homogeneous phenotype of the gypsy limb-girdle MD with the γ- sarcoglycan C283Y mutation
-
Merlini L, Kaplan J-C, Navarro C, Barois A, Bonneau D, Brasa J, Echenne B, Gallano P, Jarre L, Jeanpierre M, Kalaydjieva L, Leturcq F, Levi-Gomes A, Toutain A, Tournev I, Urtizberea A, Vallat J-M, Voit T, Warter J-M. Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation. Neurology 2000; 54: 1075-1079. (Pubitemid 30151848)
-
(2000)
Neurology
, vol.54
, Issue.5
, pp. 1075-1079
-
-
Merlini, L.1
Kaplan, J.-C.2
Navarro, C.3
Barois, A.4
Bonneau, D.5
Brasa, J.6
Echenne, B.7
Gallano, P.8
Jarre, L.9
Jeanpierre, M.10
Kalaydjieva, L.11
Leturcq, F.12
Levi-Gomes, A.13
Toutain, A.14
Tournev, I.15
Urtizberea, A.16
Vallat, J.-M.17
Voit, T.18
Warter, J.-M.19
-
38
-
-
0031920515
-
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
-
DOI 10.1038/ng0498-365
-
Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998; 18: 365-368. (Pubitemid 28158166)
-
(1998)
Nature Genetics
, vol.18
, Issue.4
, pp. 365-368
-
-
Minetti, C.1
Sotgia, F.2
Bruno, C.3
Scartezzini, P.4
Broda, P.5
Bado, M.6
Masetti, E.7
Mazzocco, M.8
Egeo, A.9
Donati, M.A.10
Volonte, D.11
Galbiati, F.12
Cordone, G.13
Bricarelli, F.D.14
Lisanti, M.P.15
Zara, F.16
-
39
-
-
0042071421
-
114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003
-
Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE)
-
Muntoni F, Valero de Bernabe B, Bittner R, Blake D, van Bokhoven H, Brockington M, Brown S, Bushby K, Campbell KP, Fiszman M, Gruenewald S, Merlini L, Quijano-Roy S, Romero N, Sabatelli P, Sewry CA, Straub V, Talim B, Topaloglu H, Voit T, Yurchenco PD, Urtizberea JA, Wewer UM, Guicheney P. 114th ENMC International Workshop on Congenital Muscular Dystrophy (CMD) 17-19 January 2003, Naarden, The Netherlands: (8th Workshop of the International Consortium on CMD; 3rd Workshop of the MYO-CLUSTER project GENRE). Neuromuscul Disord 2003; 13: 579-588.
-
(2003)
Neuromuscul Disord
, vol.13
, pp. 579-588
-
-
Muntoni, F.1
Valero De Bernabe, B.2
Bittner, R.3
Blake, D.4
Van Bokhoven, H.5
Brockington, M.6
Brown, S.7
Bushby, K.8
Campbell, K.P.9
Fiszman, M.10
Gruenewald, S.11
Merlini, L.12
Quijano-Roy, S.13
Romero, N.14
Sabatelli, P.15
Sewry, C.A.16
Straub, V.17
Talim, B.18
Topaloglu, H.19
Voit, T.20
Yurchenco, P.D.21
Urtizberea, J.A.22
Wewer, U.M.23
Guicheney, P.24
more..
-
40
-
-
0029874852
-
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
-
DOI 10.1038/ng0396-254
-
Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996; 12: 254-259. (Pubitemid 26080083)
-
(1996)
Nature Genetics
, vol.12
, Issue.3
, pp. 254-259
-
-
Nagano, A.1
Koga, R.2
Ogawa, M.3
Kurano, Y.4
Kawada, J.5
Okada, R.6
Hayashi, Y.K.7
Tsukahara, T.8
Arahata, K.9
-
41
-
-
10544243791
-
A founder mutation in the γ-sarcoglycan gene of Gypsies possibly predating their migration out of India
-
Piccolo F, Jeanpierre M, Leturcq F, Dodé C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tomé FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet 1996; 5: 2019-2022. (Pubitemid 26413648)
-
(1996)
Human Molecular Genetics
, vol.5
, Issue.12
, pp. 2019-2022
-
-
Piccolo, F.1
Jeanpierre, M.2
Leturcq, F.3
Dode, C.4
Azibi, K.5
Toutain, A.6
Merlini, L.7
Jarre, L.8
Navarro, C.9
Krishnamoorthy, R.10
Tome, F.M.S.11
Urtizberea, J.A.12
Beckmann, J.S.13
Campbell, K.P.14
Kaplan, J.-C.15
-
42
-
-
17444372434
-
Betasarcoglycanophaty (LGMD2E) in a Spanish family
-
Rivas E, Teijeira S, Dos Santos MR, Porrit I, Lecturcq F, Fernández JM, Navarro C. Betasarcoglycanophaty (LGMD2E) in a Spanish family. Acta Myologica*** 2004; XXIII: 159-162.
-
(2004)
Acta Myologica***
, vol.23
, pp. 159-162
-
-
Rivas, E.1
Teijeira, S.2
Dos Santos, M.R.3
Porrit, I.4
Lecturcq, F.5
Fernández, J.M.6
Navarro, C.7
-
43
-
-
20144389936
-
LGMD2A: Genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
-
DOI 10.1093/brain/awh408
-
Sáenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D, Camaño P, Urtasun M, Vílchez J, Gutiérrez-Rivas E, Emparanza J, Merlini L, Paisán C, Goicoechea M, Blázquez L, Eymard B, Lochmuller H, Walter M, Bonnemann C, Figarella-Branger D, Kaplan JC, Urtizberea JA, Martí-Massó JF, López de Munain A. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain 2005; 128: 732-742. (Pubitemid 40516912)
-
(2005)
Brain
, vol.128
, Issue.4
, pp. 732-742
-
-
Saenz, A.1
Leturcq, F.2
Cobo, A.M.3
Poza, J.J.4
Ferrer, X.5
Otaegui, D.6
Camano, P.7
Urtasun, M.8
Vilchez, J.9
Gutierrez-Rivas, E.10
Emparanza, J.11
Merlini, L.12
Paisan, C.13
Goicoechea, M.14
Blazquez, L.15
Eymard, B.16
Lochmuller, H.17
Walter, M.18
Bonnemann, C.19
Figarella-Branger, D.20
Kaplan, J.C.21
Urtizberea, J.A.22
Marti-Masso, J.F.23
Lopez De Munain, A.24
more..
-
44
-
-
33646353390
-
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark
-
DOI 10.1002/ana.20824
-
Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 2006; 59: 808-815. (Pubitemid 43673158)
-
(2006)
Annals of Neurology
, vol.59
, Issue.5
, pp. 808-815
-
-
Sveen, M.-L.1
Schwartz, M.2
Vissing, J.3
-
45
-
-
84939092946
-
Progressive vagus-glossopharyngeal paralysis with ptosis: Contribution to group of family diseases
-
Taylor, E.W. Progressive vagus-glossopharyngeal paralysis with ptosis: contribution to group of family diseases. J Nerv Ment Dis 1915; 42: 129-139.
-
(1915)
J Nerv Ment Dis
, vol.42
, pp. 129-139
-
-
Taylor, E.W.1
-
46
-
-
0031708978
-
Subsarcolemmal expression of utrophin in neuromuscular disorders: An immunohistochemical study of 80 cases
-
DOI 10.1007/s004010050922
-
Teijeira S, Teijeiro A, Fernández R, Navarro C. Subsarcolemmal expression of utrophin in neuromuscular disorders: an immunohistochemical study of 80 cases. Acta Neuropathol 1998; 96: 481-486. (Pubitemid 28474755)
-
(1998)
Acta Neuropathologica
, vol.96
, Issue.5
, pp. 481-486
-
-
Teijeira, S.1
Teijeiro, A.2
Fernendez, R.3
Navarro, C.4
-
47
-
-
0000042975
-
On the classification, natural history and treatment of the myopathies
-
Walton JN, Nattrass FJ. On the classification, natural history and treatment of the myopathies. Brain 1954; 77: 169-231.
-
(1954)
Brain
, vol.77
, pp. 169-231
-
-
Walton, J.N.1
Nattrass, F.J.2
-
48
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M,, Ozawa E. Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem 1990; 108: 748-752.
-
(1990)
J Biochem
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
|