-
1
-
-
0024600620
-
Association of dystrophin and an integral membrane glycoprotein
-
Campbell KP, Kahl SD: Association of dystrophin and an integral membrane glycoprotein. Nature 1989, 338:259-262.
-
(1989)
Nature
, vol.338
, pp. 259-262
-
-
Campbell, K.P.1
Kahl, S.D.2
-
2
-
-
0025242185
-
Glycoprotein complex anchoring dystrophin to sarcolemma
-
Yoshida M, Ozawa E: Glycoprotein complex anchoring dystrophin to sarcolemma. J Biochem (Tokyo) 1990, 108:748-752.
-
(1990)
J Biochem (Tokyo)
, vol.108
, pp. 748-752
-
-
Yoshida, M.1
Ozawa, E.2
-
3
-
-
0025815479
-
Membrane organization of the dystrophin-glycoprotein complex
-
Ervasti JM, Campbell KP: Membrane organization of the dystrophin-glycoprotein complex. Cell 1991, 66:1121-1131.
-
(1991)
Cell
, vol.66
, pp. 1121-1131
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
4
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkel LM: The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988, 53:219-226.
-
(1988)
Cell
, vol.53
, pp. 219-226
-
-
Koenig, M.1
Monaco, A.P.2
Kunkel, L.M.3
-
5
-
-
0027216855
-
Heterogeneity of dystrophin-associated proteins
-
Yamamoto H, Hagiwara Y, Mizuno Y, Yoshida M, Ozawa E: Heterogeneity of dystrophin-associated proteins. J Biochem (Tokyo) 1993, 114:132-139.
-
(1993)
J Biochem (Tokyo)
, vol.114
, pp. 132-139
-
-
Yamamoto, H.1
Hagiwara, Y.2
Mizuno, Y.3
Yoshida, M.4
Ozawa, E.5
-
6
-
-
0029936606
-
Dystrophin and its isoforms
-
Sadoulet-Puccio HM, Kunkel LM: Dystrophin and its isoforms. Brain Pathol 1996, 6:25-35. This recent review describes the different isoforms of dystrophin, including their structure, tissue distribution, and functions.
-
(1996)
Brain Pathol
, vol.6
, pp. 25-35
-
-
Sadoulet-Puccio, H.M.1
Kunkel, L.M.2
-
7
-
-
0026543686
-
Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix
-
Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP: Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 1992, 355:696-702.
-
(1992)
Nature
, vol.355
, pp. 696-702
-
-
Ibraghimov-Beskrovnaya, O.1
Ervasti, J.M.2
Leveille, C.J.3
Slaughter, C.A.4
Sernett, S.W.5
Campbell, K.P.6
-
8
-
-
0027275643
-
A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin
-
Ervasti JM, Campbell KP: A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J Cell Biol 1993, 122:809-823.
-
(1993)
J Cell Biol
, vol.122
, pp. 809-823
-
-
Ervasti, J.M.1
Campbell, K.P.2
-
9
-
-
0028302369
-
Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside
-
Yoshida M, Suzuki A, Yamamoto H, Noguchi S, Mizuno Y, Ozawa E: Dissociation of the complex of dystrophin and its associated proteins into several unique groups by n-octyl beta-D-glucoside. Eur J Biochem 1994, 222:1055-1061.
-
(1994)
Eur J Biochem
, vol.222
, pp. 1055-1061
-
-
Yoshida, M.1
Suzuki, A.2
Yamamoto, H.3
Noguchi, S.4
Mizuno, Y.5
Ozawa, E.6
-
10
-
-
10144247267
-
Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein
-
Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, et al.: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996, 5:1179-1186. The first identification of δ-sarcoglycan, based on a γsarcoglycan-related partial expressed sequence tag and the hypothesis that there had to be a second 35-kD dystrophin associated protein based on the analysis of 2D protein gels from the work by Yamamoto et al. (J Biochem [Tokyo] 1993, 114:132-139).
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1179-1186
-
-
Nigro, V.1
Piluso, G.2
Belsito, A.3
Politano, L.4
Puca, A.A.5
Papparella, S.6
Rossi, E.7
Viglietto, G.8
Esposito, M.G.9
Abbondanza, C.10
Medici, N.11
-
11
-
-
0027216855
-
-
Nigro V, Piluso G, Belsito A, Politano L, Puca AA, Papparella S, Rossi E, Viglietto G, Esposito MG, Abbondanza C, Medici N, et al.: Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet 1996, 5:1179-1186. The first identification of δ-sarcoglycan, based on a γsarcoglycan-related partial expressed sequence tag and the hypothesis that there had to be a second 35-kD dystrophin associated protein based on the analysis of 2D protein gels from the work by Yamamoto et al. (J Biochem [Tokyo] 1993, 114:132-139).
-
(1993)
J Biochem [Tokyo]
, vol.114
, pp. 132-139
-
-
Yamamoto1
-
12
-
-
10544235436
-
Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in LGMD
-
in press
-
Jung D, Duclos F, Apostol B, Straub V, Lee JC, Allamand V, Venzke DP, Sunada Y, Moomaw CR, Leveille CJ, Slaughter CA, et al.: Characterization of δ-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in LGMD. J Biol Chem 1996, in press. Subsequent identification and characterization of δ-sarcoglycan by an independent group.
-
(1996)
J Biol Chem
-
-
Jung, D.1
Duclos, F.2
Apostol, B.3
Straub, V.4
Lee, J.C.5
Allamand, V.6
Venzke, D.P.7
Sunada, Y.8
Moomaw, C.R.9
Leveille, C.J.10
Slaughter, C.A.11
-
13
-
-
0028877455
-
Muscular dystrophies: Diseases of the dystrophin-glycoprotein complex
-
Worton R: Muscular dystrophies: diseases of the dystrophin-glycoprotein complex Science 1995, 270:755-756. Concise review of the role of the sarcoglycan complex in the causation of LGMD.
-
(1995)
Science
, vol.270
, pp. 755-756
-
-
Worton, R.1
-
14
-
-
15844401780
-
Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
-
Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, Chu C, Kohtz DS, Lisanti MP: Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells: caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem 1996, 271:15160-15165.
-
(1996)
J Biol Chem
, vol.271
, pp. 15160-15165
-
-
Song, K.S.1
Scherer, P.E.2
Tang, Z.3
Okamoto, T.4
Li, S.5
Chafel, M.6
Chu, C.7
Kohtz, D.S.8
Lisanti, M.P.9
-
15
-
-
0029937712
-
Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane
-
Sadoulet-Puccio HM, Khurana TS, Cohen JB, Kunkel LM: Cloning and characterization of the human homologue of a dystrophin related phosphoprotein found at the Torpedo electric organ post-synaptic membrane. Hum Mol Genet 1996, 5:489-496.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 489-496
-
-
Sadoulet-Puccio, H.M.1
Khurana, T.S.2
Cohen, J.B.3
Kunkel, L.M.4
-
16
-
-
0027980295
-
Increasing complexity of the dystrophin-associated protein complex
-
Tinsley JM, Blake DJ, Zuellig RA, Davies KE: Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci U S A 1994, 91:8307-8313.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 8307-8313
-
-
Tinsley, J.M.1
Blake, D.J.2
Zuellig, R.A.3
Davies, K.E.4
-
17
-
-
0029089582
-
Dystrophin-associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Hagiwara Y, Suzuki A, Mizuno Y, Noguchi S: Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995, 4:1711-1716. Another useful review of the various dystrophin-associated proteins and their potential roles in the pathophysiology of muscular dystrophy.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Hagiwara, Y.3
Suzuki, A.4
Mizuno, Y.5
Noguchi, S.6
-
19
-
-
0028835527
-
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies
-
Bushby KMD: Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limb-girdle dystrophies. Neuromusc Disord 1995, 5:71-74.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 71-74
-
-
Bushby, K.M.D.1
-
20
-
-
0029334512
-
The limb girdle muscular dystrophies: Proposal for a new nomenclature
-
Bushby KM, Beckmann JS: The limb girdle muscular dystrophies: proposal for a new nomenclature. Neuromusc Disord 1995, 4:337-343. This is the report of a consensus meeting to establish a new, genetically based nomenclature for the LGMDs.
-
(1995)
Neuromusc Disord
, vol.4
, pp. 337-343
-
-
Bushby, K.M.1
Beckmann, J.S.2
-
21
-
-
0025753198
-
Limb-girdle syndrome: A genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies
-
Passos-Bueno MR, Vainzof M, Pavanello RCM, Pavanello-Filho I, Lima MABO, Zatz M: Limb-girdle syndrome: a genetic study of 22 large Brazilian families. Comparison with X-linked Duchenne and Becker dystrophies. J Neurol Sci 1991, 103:65-75.
-
(1991)
J Neurol Sci
, vol.103
, pp. 65-75
-
-
Passos-Bueno, M.R.1
Vainzof, M.2
Pavanello, R.C.M.3
Pavanello-Filho, I.4
Lima, M.A.B.O.5
Zatz, M.6
-
22
-
-
0028805390
-
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: A study of 415 families
-
Stec I, Kress W, Meng G, Müller B, Müller CR, Grimm T: Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 families. J Med Genet 1995, 32:930-933.
-
(1995)
J Med Genet
, vol.32
, pp. 930-933
-
-
Stec, I.1
Kress, W.2
Meng, G.3
Müller, B.4
Müller, C.R.5
Grimm, T.6
-
23
-
-
0029963979
-
Juvenile limb-girdle muscular dystrophy: Clinical, histopathological and genetic data from a small community living in the Reunion Island
-
Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tomé FMS, Richard I, Beckmann J: Juvenile limb-girdle muscular dystrophy: clinical, histopathological and genetic data from a small community living in the Reunion Island. Brain 1996, 119:295-308. Careful clinical analysis of the phenotype of LGMD 2A in Reunion Island, especially relevant for the pattern of early muscle involvement with prominent scapular winging, thus providing useful clinical clues.
-
(1996)
Brain
, vol.119
, pp. 295-308
-
-
Fardeau, M.1
Hillaire, D.2
Mignard, C.3
Feingold, N.4
Feingold, J.5
Mignard, D.6
De Ubeda, B.7
Collin, H.8
Fms, T.9
Richard, I.10
Beckmann, J.11
-
24
-
-
0026027805
-
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
-
Beckmann JS, Richard I, Hillaire D, Broux O, Antignac C, Bois E, Cann H, Cottingham RW, Feingold N, Feingold J, Kalil J, et al.: A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III 1991, 312:141-148.
-
(1991)
C R Acad Sci III
, vol.312
, pp. 141-148
-
-
Beckmann, J.S.1
Richard, I.2
Hillaire, D.3
Broux, O.4
Antignac, C.5
Bois, E.6
Cann, H.7
Cottingham, R.W.8
Feingold, N.9
Feingold, J.10
Kalil, J.11
-
25
-
-
0027215588
-
Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families
-
Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SK, Carvalho AA, Guilherme L, et al.: Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. J Med Genet 1993, 30:385-387.
-
(1993)
J Med Genet
, vol.30
, pp. 385-387
-
-
Passos-Bueno, M.R.1
Richard, I.2
Vainzof, M.3
Fougerousse, F.4
Weissenbach, J.5
Broux, O.6
Cohen, D.7
Akiyama, J.8
Marie, S.K.9
Carvalho, A.A.10
Guilherme, L.11
-
26
-
-
0028997311
-
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval
-
Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Pereira de Souza A, Roudaut C, et al.: Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1 cM 15q15.1-q15.3 interval. Am J Hum Genet 1995, 56:1417-1430.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1417-1430
-
-
Allamand, V.1
Broux, O.2
Richard, I.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, P.9
Pereira De Souza, A.10
Roudaut, C.11
-
27
-
-
0028960871
-
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene
-
Chiannilkulchai N, Pasturaud P, Richard I, Auffray C, Beckmann JS: A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. Hum Mol Genet 1995, 4:717-725.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 717-725
-
-
Chiannilkulchai, N.1
Pasturaud, P.2
Richard, I.3
Auffray, C.4
Beckmann, J.S.5
-
28
-
-
0028905205
-
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
-
Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud C, Roudaut C, Hillaire D, et al.: Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Cell 1995, 81:27-40. First demonstration of mutations in a nonstructural protein causing muscular dystrophy, thus suggesting novel mechanisms of pathogenesis.
-
(1995)
Cell
, vol.81
, pp. 27-40
-
-
Richard, I.1
Broux, O.2
Allamand, V.3
Fougerousse, F.4
Chiannilkulchai, N.5
Bourg, N.6
Brenguier, L.7
Devaud, C.8
Pasturaud, C.9
Roudaut, C.10
Hillaire, D.11
-
29
-
-
13344285357
-
Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence
-
Sorimachi H, Kinbara K, Kimura S, Takahashi M, Ishiura S, Sasagawa N, Sorimachi N, Shimada H, Tagawa K, Maruyama K, Suzuki K: Muscle-specific calpain, p94, responsible for limb-girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. J Biol Chem 1995, 270:31158-31162. The demonstration of an association of calpain-3 with connectin is an important step to understanding calpain's potential roles in normal muscle and in muscular dystrophy.
-
(1995)
J Biol Chem
, vol.270
, pp. 31158-31162
-
-
Sorimachi, H.1
Kinbara, K.2
Kimura, S.3
Takahashi, M.4
Ishiura, S.5
Sasagawa, N.6
Sorimachi, N.7
Shimada, H.8
Tagawa, K.9
Maruyama, K.10
Suzuki, K.11
-
30
-
-
10544234620
-
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies
-
in press
-
Vainzof M, Passos-Bueno MR, Moreira ES, Pavanello RCM, Marie SK, Anderson LVB, Bönnemann CG, McNally EM, Nigro V, Kunkel LM, Zatz M: The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Hum Mol Genet 1996, in press. Analysis of the four sarcoglycans in the different autosomal recessive LGMDs, showing patterns of reduction of the sarcoglycans as well as reductions in dystrophin immunofluorescence in some of the sarcoglycan-deficient LGMDs.
-
(1996)
Hum Mol Genet
-
-
Vainzof, M.1
Passos-Bueno, M.R.2
Moreira, E.S.3
Pavanello, R.C.M.4
Marie, S.K.5
Anderson, L.V.B.6
Bönnemann, C.G.7
McNally, E.M.8
Nigro, V.9
Kunkel, L.M.10
Zatz, M.11
-
31
-
-
0029045522
-
A foundation for limb-girdle muscular dystrophy
-
van Ommen GJB: A foundation for limb-girdle muscular dystrophy. Nature Med 1995, 1:412-414.
-
(1995)
Nature Med
, vol.1
, pp. 412-414
-
-
Van Ommen, G.J.B.1
-
32
-
-
8044231565
-
DNA studies of limb-girdle muscular dystrophy type 2A: A survey of the Amish in one Northern Indiana county
-
Tucson: Muscular Dystrophy Association
-
Feldman GL, Pratt VM, Jackson GE: DNA studies of limb-girdle muscular dystrophy type 2A: a survey of the Amish in one Northern Indiana county [abstract]. Abstracts of the LGMD Genetics Workshop, Tunis, 1996. Tucson: Muscular Dystrophy Association; 1996.
-
(1996)
Abstracts of the LGMD Genetics Workshop, Tunis, 1996
-
-
Feldman, G.L.1
Pratt, V.M.2
Jackson, G.E.3
-
33
-
-
0028326542
-
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
-
Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KMD: A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994, 3:455-457.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 455-457
-
-
Bashir, R.1
Strachan, T.2
Keers, S.3
Stephenson, A.4
Mahjneh, I.5
Marconi, G.6
Nashef, L.7
Bushby, K.M.D.8
-
34
-
-
0029057637
-
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region
-
Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A, et al.: Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. Genomics 1995, 27:192-195.
-
(1995)
Genomics
, vol.27
, pp. 192-195
-
-
Passos-Bueno, M.R.1
Bashir, R.2
Moreira, E.S.3
Vainzof, M.4
Marie, S.K.5
Vasquez, L.6
Iughetti, P.7
Bakker, E.8
Keers, S.9
Stephenson, A.10
-
35
-
-
19144370503
-
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
-
Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, et al.: Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. J Med Genet 1996, 33:97-102.
-
(1996)
J Med Genet
, vol.33
, pp. 97-102
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Marie, S.K.3
Bashir, R.4
Vasquez, L.5
Love, D.R.6
Vainzof, M.7
Iughetti, P.8
Oliveira, J.R.9
Bakker, E.10
Strachan, T.11
-
36
-
-
0030477874
-
The phenotype of chromosome 2p-linked limb girdle muscular dystrophy
-
in press
-
Mahjneh I, Passos-Bueno M-R, Zatz M, Vainzof M, Marconi G, Nashef L, Bashir R, Bushby K: The phenotype of chromosome 2p-linked limb girdle muscular dystrophy. Neuromusc Disord 1996, in press. Careful clinical analysis of LGMD 2B, including muscle imaging showing early involvement of the gastrocnemius, thus strengthening the relation of LGMD 2B to Miyoshi myopathy.
-
(1996)
Neuromusc Disord
-
-
Mahjneh, I.1
Passos-Bueno, M.-R.2
Zatz, M.3
Vainzof, M.4
Marconi, G.5
Nashef, L.6
Bashir, R.7
Bushby, K.8
-
37
-
-
0029873710
-
Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD 2B) on chromosome 2p
-
Bashir R, Keers S, Strachan T, Passos-Bueno MR, Zatz M, Weissenbach J, Le Paslper D, Meisler MH, Bushby K: Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD 2B) on chromosome 2p. Genomics 1996, 33:46-52.
-
(1996)
Genomics
, vol.33
, pp. 46-52
-
-
Bashir, R.1
Keers, S.2
Strachan, T.3
Passos-Bueno, M.R.4
Zatz, M.5
Weissenbach, J.6
Le Paslper, D.7
Meisler, M.H.8
Bushby, K.9
-
38
-
-
10144263775
-
Molecular genetics of chromosome 2-linked LGMD
-
Bushby K, Bashir R, Keers S, Britton S, Meisler MH, DelMastro R, Lovett M, Strachan T: Molecular genetics of chromosome 2-linked LGMD. Neuromusc Disord 1996, 6:AIS4.
-
(1996)
Neuromusc Disord
, vol.6
-
-
Bushby, K.1
Bashir, R.2
Keers, S.3
Britton, S.4
Meisler, M.H.5
DelMastro, R.6
Lovett, M.7
Strachan, T.8
-
39
-
-
0028951204
-
Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14
-
Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP, Griggs RC, et al.: Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 1995, 45:768-772. Demonstration that Miyoshi myopathy falls into the same genetic region to which LGMD 2B maps, thus suggesting that the two disorders may be allelic.
-
(1995)
Neurology
, vol.45
, pp. 768-772
-
-
Bejaoui, K.1
Hirabayashi, K.2
Hentati, F.3
Haines, J.L.4
Ben Hamida, C.5
Belal, S.6
Miller, R.G.7
McKenna-Yasek, D.8
Weissenbach, J.9
Rowland, L.P.10
Griggs, R.C.11
-
40
-
-
0027932422
-
Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle
-
Mizuno Y, Noguchi S, Yamamoto H, Yoshida M, Suzuki A, Hagiwara Y, Hayashi YK, Arahata K, Nonaka I, Hirai S, Ozawa E: Selective defect of sarcoglycan complex in severe childhood autosomal recessive muscular dystrophy muscle. Biochem Biophys Res Commun 1994, 203:979-983.
-
(1994)
Biochem Biophys Res Commun
, vol.203
, pp. 979-983
-
-
Mizuno, Y.1
Noguchi, S.2
Yamamoto, H.3
Yoshida, M.4
Suzuki, A.5
Hagiwara, Y.6
Hayashi, Y.K.7
Arahata, K.8
Nonaka, I.9
Hirai, S.10
Ozawa, E.11
-
41
-
-
18544402590
-
Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12
-
Jung D, Leturcq F, Sunada Y, Duclos F, Tome FM, Moomaw C, Merlini L, Azibi K, Chaouch M, Slaughter C, Fardeau M, et al.: Absence of gamma-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12. FEBS Lett 1996, 381:15-20.
-
(1996)
FEBS Lett
, vol.381
, pp. 15-20
-
-
Jung, D.1
Leturcq, F.2
Sunada, Y.3
Duclos, F.4
Tome, F.M.5
Moomaw, C.6
Merlini, L.7
Azibi, K.8
Chaouch, M.9
Slaughter, C.10
Fardeau, M.11
-
42
-
-
0028971219
-
β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex
-
Bönnemann CG, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally EM, Duggan DJ, Angelini C, Hoffman EP, Ozawa E, et al.: β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nat Genet 1995, 11:266-273.
-
(1995)
Nat Genet
, vol.11
, pp. 266-273
-
-
Bönnemann, C.G.1
Modi, R.2
Noguchi, S.3
Mizuno, Y.4
Yoshida, M.5
Gussoni, E.6
McNally, E.M.7
Duggan, D.J.8
Angelini, C.9
Hoffman, E.P.10
Ozawa, E.11
-
43
-
-
0028971221
-
β-sarcoglycan (43 DAG): Characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12
-
Lim LE, Duclos F, Broux O, Bourg N, Sunada Y, Allamand V, Meyer J, Richard I, Tomé F, Fardeau M, Moomaw C, et al.: β-sarcoglycan (43 DAG): characterization and involvement in a recessive form of limb-girdle muscular dystrophy linked to chromosome 4q12. Nat Genet 1995, 11:257-265. Report on the cloning of β-sarcoglycan and mutations in the gene in sporadic as well as familial LGMD (type 2E). Also demonstrates disintegration of the sarcoglycan complex with known underlying mutations in one of its members.
-
(1995)
Nat Genet
, vol.11
, pp. 257-265
-
-
Lim, L.E.1
Duclos, F.2
Broux, O.3
Bourg, N.4
Sunada, Y.5
Allamand, V.6
Meyer, J.7
Richard, I.8
Tomé, F.9
Fardeau, M.10
Moomaw, C.11
-
44
-
-
0030051194
-
Brief report: Deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy
-
Fadic R, Sunada Y, Waclawik AJ, Buck S, Lewandoski PJ, Campbell KP, Lotz BP: Brief report: deficiency of a dystrophin-associated glycoprotein (adhalin) in a patient with muscular dystrophy and cardiomyopathy. N Engl J Med 1996, 334:362-366.
-
(1996)
N Engl J Med
, vol.334
, pp. 362-366
-
-
Fadic, R.1
Sunada, Y.2
Waclawik, A.J.3
Buck, S.4
Lewandoski, P.J.5
Campbell, K.P.6
Lotz, B.P.7
-
45
-
-
0028894660
-
Sarcoglycan complex is selectively lost in dystrophic hamster muscle
-
Mizuno Y, Noguchi S, Yoshida M, Nonaka I, Hirai S, Ozawa E: Sarcoglycan complex is selectively lost in dystrophic hamster muscle. Am J Pathol 1995, 146:530-536.
-
(1995)
Am J Pathol
, vol.146
, pp. 530-536
-
-
Mizuno, Y.1
Noguchi, S.2
Yoshida, M.3
Nonaka, I.4
Hirai, S.5
Ozawa, E.6
-
46
-
-
0029011519
-
Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster
-
Roberds SL, Campbell KP: Adhalin mRNA and cDNA sequence are normal in the cardiomyopathic hamster. FEBS Lett 1995, 364:245-249.
-
(1995)
FEBS Lett
, vol.364
, pp. 245-249
-
-
Roberds, S.L.1
Campbell, K.P.2
-
47
-
-
0029889476
-
Deficiency of adhalin in a patient with muscular dystrophy and cardlomyopathy
-
McNally EM, Bönnemann CG, Kunkel LM, Bhattacharya SK: Deficiency of adhalin in a patient with muscular dystrophy and cardlomyopathy [letter]. N Engl J Med 1996, 334:1610-1611.
-
(1996)
N Engl J Med
, vol.334
, pp. 1610-1611
-
-
McNally, E.M.1
Bönnemann, C.G.2
Kunkel, L.M.3
Bhattacharya, S.K.4
-
48
-
-
0020606260
-
Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia
-
Ben Hamida M, Fardeau M, Attia N: Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia. Muscle Nerve 1983, 6:469-480.
-
(1983)
Muscle Nerve
, vol.6
, pp. 469-480
-
-
Ben Hamida, M.1
Fardeau, M.2
Attia, N.3
-
49
-
-
0026757138
-
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
-
Matsumura K, Tomé FMS, Huguette C, Azibi K, Chaouch M, Kaplan J-C, Fardeau M, Campbell KP: Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy. Nature 1992, 359:320-322.
-
(1992)
Nature
, vol.359
, pp. 320-322
-
-
Matsumura, K.1
Tomé, F.M.S.2
Huguette, C.3
Azibi, K.4
Chaouch, M.5
Kaplan, J.-C.6
Fardeau, M.7
Campbell, K.P.8
-
50
-
-
0027032694
-
Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the perlcentromeric region of chromosome 13q
-
Ben Othmane K, Ben Hamida M, Pericak-Vance MA, Ben Hamida C, Blel S, Carter SC, Bowcock AM, Petruhkin K, Gilliam TC, Roses AD, et al.: Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the perlcentromeric region of chromosome 13q. Nat Genet 1992, 2:315-317.
-
(1992)
Nat Genet
, vol.2
, pp. 315-317
-
-
Ben Othmane, K.1
Ben Hamida, M.2
Pericak-Vance, M.A.3
Ben Hamida, C.4
Blel, S.5
Carter, S.C.6
Bowcock, A.M.7
Petruhkin, K.8
Gilliam, T.C.9
Roses, A.D.10
-
51
-
-
0027171297
-
Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12
-
Azibi K, Bachner L, Beckmann JS, Matsumura K, Hamouda E, Chaouch M, Chaouch A, Ait-Ouarab R, Vignal A, Weissenbach J, et al.: Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12. Hum Mol Genet 1993, 2:1423-1428.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1423-1428
-
-
Azibi, K.1
Bachner, L.2
Beckmann, J.S.3
Matsumura, K.4
Hamouda, E.5
Chaouch, M.6
Chaouch, A.7
Ait-Ouarab, R.8
Vignal, A.9
Weissenbach, J.10
-
52
-
-
0028354947
-
Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco Indicates genetic homogeneity of the disease in north Africa
-
el Kerch F, Sefiani A, Azibi K, Boutaleb N, Yahyaoui M, Bentahila A, Vinet MC, Leturcq F, Bachner L, Beckmann J, et al.: Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco Indicates genetic homogeneity of the disease in north Africa. J Med Genet 1994, 31:342-343.
-
(1994)
J Med Genet
, vol.31
, pp. 342-343
-
-
El Kerch, F.1
Sefiani, A.2
Azibi, K.3
Boutaleb, N.4
Yahyaoui, M.5
Bentahila, A.6
Vinet, M.C.7
Leturcq, F.8
Bachner, L.9
Beckmann, J.10
-
53
-
-
0028883973
-
Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy
-
Noguchi S, McNaly EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, Bönnemann CG, Gussoni E, Denton PH, et al.: Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995, 270:819-822. This paper reports the cloning of γ-sarcoglycan and shows a common mutation in this gene in the North African chromosome 13-linked LGMD (type 2C) as well as a muation in a sporadic LGMD case. This work also shows disintegration of the sarcoglycan complex due to a mutation in a different gene of the complex.
-
(1995)
Science
, vol.270
, pp. 819-822
-
-
Noguchi, S.1
McNaly, E.M.2
Ben Othmane, K.3
Hagiwara, Y.4
Mizuno, Y.5
Yoshida, M.6
Yamamoto, H.7
Bönnemann, C.G.8
Gussoni, E.9
Denton, P.H.10
-
54
-
-
10344249872
-
Mutations in the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy
-
McNally EM, Duggan DJ, Gorospe JR, Bönnemann CG, Fanin M, Lidov HGW, Noguchi S, Ozawa E, Rulye SZ, Cruse RP, et al.: Mutations in the carboxyl-terminus of γ-sarcoglycan cause muscular dystrophy. Hum Mol Genet 1996, 5:1841-1847.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1841-1847
-
-
McNally, E.M.1
Duggan, D.J.2
Gorospe, J.R.3
Bönnemann, C.G.4
Fanin, M.5
Hgw, L.6
Noguchi, S.7
Ozawa, E.8
Rulye, S.Z.9
Cruse, R.P.10
-
55
-
-
19244363787
-
Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation
-
McNally EM, Passos-Bueno R, Bönnemann CG, Vainzoff M, De Sá Moreira E, Lidov HGW, Ben Othmane K, Denton PH, Vance JM, Zatz M, Kunkel LM: Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation. Am J Hum Genet 1996, 59:872-878.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 872-878
-
-
McNally, E.M.1
Passos-Bueno, R.2
Bönnemann, C.G.3
Vainzoff, M.4
De Sá Moreira, E.5
Lidov, H.G.W.6
Ben Othmane, K.7
Denton, P.H.8
Vance, J.M.9
Zatz, M.10
Kunkel, L.M.11
-
56
-
-
0028146869
-
Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
-
Roberds SL, Leturcq F, Allamand V, Piccolo F, Jeanpierre M, Anderson RD, Lim LE, Lee JC, Tomé FMS, Romero NB, Fardeau M, et al.: Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 1994, 78:625-633.
-
(1994)
Cell
, vol.78
, pp. 625-633
-
-
Roberds, S.L.1
Leturcq, F.2
Allamand, V.3
Piccolo, F.4
Jeanpierre, M.5
Anderson, R.D.6
Lim, L.E.7
Lee, J.C.8
Fms, T.9
Romero, N.B.10
Fardeau, M.11
-
57
-
-
0029319426
-
Primary adhalinopathy: A common cause of autosomal recessive muscular dystrophy of variable severity
-
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, et al.: Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Gener 1995, 10:243-245. The first more extensive mutation report for one of the sarcoglycan genes (α) with demonstration of phenotypic variability in genetically defined LGMD 2D.
-
(1995)
Nat Gener
, vol.10
, pp. 243-245
-
-
Piccolo, F.1
Roberds, S.L.2
Jeanpierre, M.3
Leturcq, F.4
Azibi, K.5
Beldjord, C.6
Carrie, A.7
Recan, D.8
Chaouch, M.9
Reghis, A.10
-
58
-
-
0029094331
-
Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency
-
Kawai H, Akaike M, Endo T, Adachi K, Inui T, Mitsui T, Kashiwagi S, Fujiwara T, Okuno S, Shin S, Miyoshi K, et al.: Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J Clin Invest 1995, 96:1202-1207.
-
(1995)
J Clin Invest
, vol.96
, pp. 1202-1207
-
-
Kawai, H.1
Akaike, M.2
Endo, T.3
Adachi, K.4
Inui, T.5
Mitsui, T.6
Kashiwagi, S.7
Fujiwara, T.8
Okuno, S.9
Shin, S.10
Miyoshi, K.11
-
59
-
-
0029164775
-
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin
-
Ljunggren A, Duggan D, McNally E, Boylan KB, Kunkel LM, Hoffman EP: Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol 1995, 38:367-372.
-
(1995)
Ann Neurol
, vol.38
, pp. 367-372
-
-
Ljunggren, A.1
Duggan, D.2
McNally, E.3
Boylan, K.B.4
Kunkel, L.M.5
Hoffman, E.P.6
-
60
-
-
0029047106
-
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy
-
Passos-Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Roberds S, Campbell KP, Zatz M: A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. Hum Mol Genet 1995, 4:1163-1167.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1163-1167
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
Chamberlain, J.4
Marie, S.K.5
Pereira, L.6
Roberds, S.7
Campbell, K.P.8
Zatz, M.9
-
61
-
-
0030248268
-
α-sarcoglycan (adhalin) deficiency: Complete deficiency patients are 5% of childhood-onset dystrophin normal muscular dystrophy and most partial deficiency patients do not have gene mutations
-
Duggan DJ, Fanin M, Pegoraro E, Angelini C, Hoffman EP: α-sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin normal muscular dystrophy and most partial deficiency patients do not have gene mutations. J Neurol Sci 1996, 140:30-39.
-
(1996)
J Neurol Sci
, vol.140
, pp. 30-39
-
-
Duggan, D.J.1
Fanin, M.2
Pegoraro, E.3
Angelini, C.4
Hoffman, E.P.5
-
62
-
-
8044259217
-
Biochemical/molecular/clinical correlations in sarcoglycan complex disorders
-
Hoffmann EP, Duggan DJ, Gorospe RR, Fanin M, Pegoraro E, McNally E, Kunkel LM, Noguchi S, Ozawa E: Biochemical/molecular/clinical correlations in sarcoglycan complex disorders. Neuromusc Disord 1996, 6:AIS9.
-
(1996)
Neuromusc Disord
, vol.6
-
-
Hoffmann, E.P.1
Duggan, D.J.2
Gorospe, R.R.3
Fanin, M.4
Pegoraro, E.5
McNally, E.6
Kunkel, L.M.7
Noguchi, S.8
Ozawa, E.9
-
63
-
-
0028968790
-
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus
-
Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS: Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Hum Mol Genet 1995, 4:459-463.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 459-463
-
-
Allamand, V.1
Broux, O.2
Bourg, N.3
Richard, I.4
Tischfield, J.A.5
Hodes, M.E.6
Conneally, P.M.7
Fardeau, M.8
Jackson, C.E.9
Beckmann, J.S.10
-
64
-
-
10544252688
-
Genomic screening for β-sarcoglycan mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)
-
in press
-
Bönnemann CG, Passos-Bueno R, McNally EM, Vainzoff M, de Sá Moreira E, Marie SK, Pavanello RCM, Noguchi S, Ozawa E, Zatz M, Kunkel LM: Genomic screening for β-sarcoglycan mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum Mol Genet 1996, in press.
-
(1996)
Hum Mol Genet
-
-
Bönnemann, C.G.1
Passos-Bueno, R.2
McNally, E.M.3
Vainzoff, M.4
De Sá Moreira, E.5
Marie, S.K.6
Rcm, P.7
Noguchi, S.8
Ozawa, E.9
Zatz, M.10
Kunkel, L.M.11
-
65
-
-
0030008373
-
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
-
Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M: Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996, 5:815-820. Chromosomal assignment of LGMD 2F, later shown to be due to a δ sarcoglycan mutation (see Nigro et al., Nature Genet 1996, 14:195-198). This work also presents evidence for yet another sarcoglycan-positive locus for autosomal recessive LGMD.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 815-820
-
-
Passos-Bueno, M.R.1
Moreira, E.S.2
Vainzof, M.3
Marie, S.K.4
Zatz, M.5
-
66
-
-
0029816797
-
-
Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M: Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet 1996, 5:815-820. Chromosomal assignment of LGMD 2F, later shown to be due to a δ sarcoglycan mutation (see Nigro et al., Nature Genet 1996, 14:195-198). This work also presents evidence for yet another sarcoglycan-positive locus for autosomal recessive LGMD.
-
(1996)
Nature Genet
, vol.14
, pp. 195-198
-
-
Nigro1
-
67
-
-
0029816797
-
The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene
-
Nigro V, de Sa Moriera E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M: The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996, 14:195-198. Demonstration that the δ-sarcoglycan gene is mutated in LGMD 2F (see Passos-Bueno et al., Hum Mol Genet 1996, 5:815-820), thus implicating all four known sarcoglycans in the pathogenesis of LGMD. This paper also shows loss of all four sarcoglycans in the muscle of LGMD 2F patients.
-
(1996)
Nat Genet
, vol.14
, pp. 195-198
-
-
Nigro, V.1
De Sa Moriera, E.2
Piluso, G.3
Vainzof, M.4
Belsito, A.5
Politano, L.6
Puca, A.A.7
Passos-Bueno, M.R.8
Zatz, M.9
-
68
-
-
0030008373
-
-
Nigro V, de Sa Moriera E, Piluso G, Vainzof M, Belsito A, Politano L, Puca AA, Passos-Bueno MR, Zatz M: The 5q autosomal recessive limb-girdle muscular dystrophy (LGMD 2F) is caused by a mutation in the δ-sarcoglycan gene. Nat Genet 1996, 14:195-198. Demonstration that the δ-sarcoglycan gene is mutated in LGMD 2F (see Passos-Bueno et al., Hum Mol Genet 1996, 5:815-820), thus implicating all four known sarcoglycans in the pathogenesis of LGMD. This paper also shows loss of all four sarcoglycans in the muscle of LGMD 2F patients.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 815-820
-
-
Passos-Bueno1
-
69
-
-
0026690760
-
Confirmation of genetic heterogeneity in limb-girdle-muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
-
Speer MC, Yamaoka LH, Gilchrist JH, Gaskell CP, Staijch JM, Vance JM, Kasantsev A, Lastra AA, Haynes CS, Beckmann JS, et al.: Confirmation of genetic heterogeneity in limb-girdle-muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992, 50:1211-1217.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 1211-1217
-
-
Speer, M.C.1
Yamaoka, L.H.2
Gilchrist, J.H.3
Gaskell, C.P.4
Staijch, J.M.5
Vance, J.M.6
Kasantsev, A.7
Lastra, A.A.8
Haynes, C.S.9
Beckmann, J.S.10
-
70
-
-
0027983965
-
Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9
-
Yamaoka LH, Westbrook CA, Speer MC, Gilchrist JM, Jabs EW, Schweins EG, Stajich JM, Gaskell PC, Roses AD, Pericak-Vance MA: Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9. Neuromusc Disord 1994, 4:471-475.
-
(1994)
Neuromusc Disord
, vol.4
, pp. 471-475
-
-
Yamaoka, L.H.1
Westbrook, C.A.2
Speer, M.C.3
Gilchrist, J.M.4
Jabs, E.W.5
Schweins, E.G.6
Stajich, J.M.7
Gaskell, P.C.8
Roses, A.D.9
Pericak-Vance, M.A.10
-
71
-
-
0023856168
-
Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy
-
Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD: Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology 1988, 38:5-9.
-
(1988)
Neurology
, vol.38
, pp. 5-9
-
-
Gilchrist, J.M.1
Pericak-Vance, M.2
Silverman, L.3
Roses, A.D.4
-
72
-
-
0029653565
-
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A
-
Speer MC, Yamaoka LH, Stajich J, Lewis K, Pericak-Vance MA, Stacy R, Tandan R, Fries TJ: Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A [letter]. Am J Med Genet 1995, 58:197-198.
-
(1995)
Am J Med Genet
, vol.58
, pp. 197-198
-
-
Speer, M.C.1
Yamaoka, L.H.2
Stajich, J.3
Lewis, K.4
Pericak-Vance, M.A.5
Stacy, R.6
Tandan, R.7
Fries, T.J.8
-
73
-
-
0029994718
-
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
-
van der Kooi AJ, Ledderhof TM, de Voogt WG, Res CJ, Bouwsma G, Troost D, Busch HF, Beeker AE, de Visser M: A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement Ann Neurol 1996, 39:636-642.
-
(1996)
Ann Neurol
, vol.39
, pp. 636-642
-
-
Van Der Kooi, A.J.1
Ledderhof, T.M.2
De Voogt, W.G.3
Res, C.J.4
Bouwsma, G.5
Troost, D.6
Busch, H.F.7
Beeker, A.E.8
De Visser, M.9
-
74
-
-
0029988596
-
Genetic localization of Bethlem myopathy
-
Jöbsis GJ, Bolhuis PA, Boers JM, Baas F, Wolterman RA, Hensels GW, de Visser M: Genetic localization of Bethlem myopathy. Neurology 1996, 46:779-782.
-
(1996)
Neurology
, vol.46
, pp. 779-782
-
-
Jöbsis, G.J.1
Bolhuis, P.A.2
Boers, J.M.3
Baas, F.4
Wolterman, R.A.5
Hensels, G.W.6
De Visser, M.7
-
75
-
-
8944254698
-
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
-
Speer MC, Tandan R, Rao PN, Fries T, Stajich J, Bolhuis P, Jöbis GJ, Vance JM, Viles KD, Sheffield K, et al.: Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37. Hum Mol Genet 1996, 5:1043-1046.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1043-1046
-
-
Speer, M.C.1
Tandan, R.2
Rao, P.N.3
Fries, T.4
Stajich, J.5
Bolhuis, P.6
Jöbis, G.J.7
Vance, J.M.8
Viles, K.D.9
Sheffield, K.10
-
76
-
-
0029771617
-
Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures
-
Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Woltermann RA, Baas F, Bolhuis PA: Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. Nat Genet 1996, 14:113-115. With the demonstration of mutations in two collagen VI subunit genes in Bethlem myopathy, the pathophysiologic chain of events in muscular dystrophy now moves out into the extracellular matrix/basal lamina.
-
(1996)
Nat Genet
, vol.14
, pp. 113-115
-
-
Jöbsis, G.J.1
Keizers, H.2
Vreijling, J.P.3
De Visser, M.4
Speer, M.C.5
Woltermann, R.A.6
Baas, F.7
Bolhuis, P.A.8
-
77
-
-
8044257969
-
Optimised protein diagnosis in the recessive muscular dystrophies
-
Anderson LVB, Davison K: Optimised protein diagnosis in the recessive muscular dystrophies [abstract]. Neuromusc Disord 1996, 6:AIS8.
-
(1996)
Neuromusc Disord
, vol.6
-
-
Anderson, L.V.B.1
Davison, K.2
-
78
-
-
9044223654
-
Clinical heterogeneity of adhalin deficiency
-
Morandi L, Barresi R, Di Blasi C, Jung O, Sunada Y, Confalonieri V, Dworzak F, Mantegazza R, Antozzi C, Jarre L, et al.: Clinical heterogeneity of adhalin deficiency. Ann Neurol 1996, 39:196-202.
-
(1996)
Ann Neurol
, vol.39
, pp. 196-202
-
-
Morandi, L.1
Barresi, R.2
Di Blasi, C.3
Jung, O.4
Sunada, Y.5
Confalonieri, V.6
Dworzak, F.7
Mantegazza, R.8
Antozzi, C.9
Jarre, L.10
-
79
-
-
0029046994
-
The frequency of patients with 50 kDa dystrophin-associated glycoprotein (50 DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan
-
Hayashi YK, Mizuno Y, Yoshida M, Nonaka I, Ozawa E, Arahata K: The frequency of patients with 50 kDa dystrophin-associated glycoprotein (50 DAG or adhalin) deficiency in a muscular dystrophy patient population in Japan. Neurology 1995, 45:551-554.
-
(1995)
Neurology
, vol.45
, pp. 551-554
-
-
Hayashi, Y.K.1
Mizuno, Y.2
Yoshida, M.3
Nonaka, I.4
Ozawa, E.5
Arahata, K.6
-
80
-
-
0029034583
-
Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy
-
Philpot J, Topaloglu H, Pennock J, Dubowitz V: Familial concordance of brain magnetic resonance imaging changes in congenital muscular dystrophy. Neuromusc Disord 1995, 5:227-231.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 227-231
-
-
Philpot, J.1
Topaloglu, H.2
Pennock, J.3
Dubowitz, V.4
-
81
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estornet B, Barois A, Campbell KP, Fardeau M: Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994, 317:251-357.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 251-357
-
-
Tomé, F.M.1
Evangelista, T.2
Leclerc, A.3
Sunada, Y.4
Manole, E.5
Estornet, B.6
Barois, A.7
Campbell, K.P.8
Fardeau, M.9
-
82
-
-
0029007799
-
Expression of laminin subunits in congenital muscular dystrophy
-
Sewry CA, Philpot J, Mahony D, Wilson LA, Muntoni F, Dubowitz V: Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 1995, 5:307-316.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 307-316
-
-
Sewry, C.A.1
Philpot, J.2
Mahony, D.3
Wilson, L.A.4
Muntoni, F.5
Dubowitz, V.6
-
83
-
-
0028094441
-
Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygoslty mapping
-
Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al.: Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygoslty mapping. Hum Mol Genet 1994, 3:1657-1661.
-
(1994)
Hum Mol Genet
, vol.3
, 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
-
84
-
-
0028066764
-
Human laminin M chain (merosin): Complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues
-
Vuolteenaha R, Nissiren M, Sainio K, Byers M, Eddy R, Hirvonen H, Shows TB, Sariola H, Engvall E, Tryggvason K: Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues. J Cell Biol 1994, 124:381-394.
-
(1994)
J Cell Biol
, vol.124
, pp. 381-394
-
-
Vuolteenaha, R.1
Nissiren, M.2
Sainio, K.3
Byers, M.4
Eddy, R.5
Hirvonen, H.6
Shows, T.B.7
Sariola, H.8
Engvall, E.9
Tryggvason, K.10
-
85
-
-
0028980027
-
Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
-
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al.: Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995, 11:216-218. First demonstration of mutations in the LAMA2 gene underlying lami nin α2-chain-deficient CMD.
-
(1995)
Nat Genet
, vol.11
, pp. 216-218
-
-
Helbling-Leclerc, A.1
Zhang, X.2
Topaloglu, H.3
Cruaud, C.4
Tesson, F.5
Weissenbach, J.6
Tome, F.M.7
Schwartz, K.8
Fardeau, M.9
Tryggvason, K.10
-
86
-
-
0029883979
-
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein
-
Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, et al.: Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am J Hum Genet 1996, 58:1177-1184.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1177-1184
-
-
Nissinen, M.1
Helbling-Leclerc, A.2
Zhang, X.3
Evangelista, T.4
Topaloglu, H.5
Cruaud, C.6
Weissenbach, J.7
Fardeau, M.8
Tomé, F.M.9
Schwartz, K.10
-
87
-
-
0029061267
-
Clinical phenotype incongenital muscular dystrophy: Correlation with expression of merosin in skeletal muscle
-
Philpot J, Sewry C, Pennock J, Dubowitz V: Clinical phenotype in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995, 5:301-305. This is the first clinical comparison of CMD patients based on their laminin α2-chain status by immunohistochemistry. It was conluded that the deficient patients have a more severe presentation, worse prognosis for ambulation, and higher CK levels.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 301-305
-
-
Philpot, J.1
Sewry, C.2
Pennock, J.3
Dubowitz, V.4
-
88
-
-
0028784040
-
Deficiency of merosin (laminin M or α2) in congenital muscular dystrophy associated with cerebral white matter alterations
-
Vainzof M, Marie SKN, Reed UC, Schwartzman JS, Pavanello RCM, Passos-Bueno MR, Zatz M: Deficiency of merosin (laminin M or α2) in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics 1995, 26:293-297.
-
(1995)
Neuropediatrics
, vol.26
, pp. 293-297
-
-
Vainzof, M.1
Marie, S.K.N.2
Reed, U.C.3
Schwartzman, J.S.4
Pavanello, R.C.M.5
Passos-Bueno, M.R.6
Zatz, M.7
-
89
-
-
0029983850
-
Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining
-
Connolly AM, Pestronk A, Planer GJ, Yue J, Mehta S, Choksi R: Congenital muscular dystrophy syndromes distinguished by alkaline and acid phosphatase, merosin, and dystrophin staining. Neurology 1996, 46:810-814.
-
(1996)
Neurology
, vol.46
, pp. 810-814
-
-
Connolly, A.M.1
Pestronk, A.2
Planer, G.J.3
Yue, J.4
Mehta, S.5
Choksi, R.6
-
90
-
-
0030018007
-
Congenital muscular dystrophy associated with merosin deficiency
-
North KN, Specht LA, Sethi RK, Shapiro F, Beggs AH: Congenital muscular dystrophy associated with merosin deficiency. J Child Neurol 1996, 11:291-295.
-
(1996)
J Child Neurol
, vol.11
, pp. 291-295
-
-
North, K.N.1
Specht, L.A.2
Sethi, R.K.3
Shapiro, F.4
Beggs, A.H.5
-
91
-
-
15844365639
-
Dystrophie musculaire congénital avec déficience en mérosine: Analyse clinique, histopathologique, immunocytochimique et génétique
-
Fardeau M, Tomé FMS, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey J-P, Fauré S, Guicheney P, et al.: Dystrophie musculaire congénital avec déficience en mérosine: analyse clinique, histopathologique, immunocytochimique et génétique. Rev Neurol (Paris) 1996, 152:11-19.
-
(1996)
Rev Neurol (Paris)
, vol.152
, pp. 11-19
-
-
Fardeau, M.1
Tomé, F.M.S.2
Helbling-Leclerc, A.3
Evangelista, T.4
Ottolini, A.5
Chevallay, M.6
Barois, A.7
Estournet, B.8
Harpey, J.-P.9
Fauré, S.10
Guicheney, P.11
-
92
-
-
0028788685
-
Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
-
Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V: Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995, 10:472-475.
-
(1995)
J Child Neurol
, vol.10
, pp. 472-475
-
-
Shorer, Z.1
Philpot, J.2
Muntoni, F.3
Sewry, C.4
Dubowitz, V.5
-
93
-
-
0028903392
-
Somatosensory and visual evoked potentials in congenital muscular dystrophy: Correlation with MRI changes and muscle merosin status
-
Mercuri E, Muntoni F, Berardinelli A, Pennock J, Sewry C, Philpot J, Dubowitz V: Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 1995, 26:3-7.
-
(1995)
Neuropediatrics
, vol.26
, pp. 3-7
-
-
Mercuri, E.1
Muntoni, F.2
Berardinelli, A.3
Pennock, J.4
Sewry, C.5
Philpot, J.6
Dubowitz, V.7
-
94
-
-
8044233952
-
Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystropohy
-
in press
-
Mercuri E, Pennock J, Goodwin F, Sewry C, Cowan F, Dubowitz L, Dubowitz V, Muntoni F: Sequential study of central and peripheral nervous system involvement in an infant with merosin-deficient congenital muscular dystropohy. Neuromusc Disord 1996, in press.
-
(1996)
Neuromusc Disord
-
-
Mercuri, E.1
Pennock, J.2
Goodwin, F.3
Sewry, C.4
Cowan, F.5
Dubowitz, L.6
Dubowitz, V.7
Muntoni, F.8
-
95
-
-
0029025151
-
Minor neurological and perceptuomotor deficits in children with congenital muscular dystrophy: Correlation with brain MRI changes
-
Mercuri E, Dubowitz L, Berardinelli A, Pennock J, Jongmans M, Henderson S, Muntoni F, Sewry C, Philpot J, Dubowitz V: Minor neurological and perceptuomotor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics 1995, 26:156-162.
-
(1995)
Neuropediatrics
, vol.26
, pp. 156-162
-
-
Mercuri, E.1
Dubowitz, L.2
Berardinelli, A.3
Pennock, J.4
Jongmans, M.5
Henderson, S.6
Muntoni, F.7
Sewry, C.8
Philpot, J.9
Dubowitz, V.10
-
96
-
-
0011816003
-
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: Report of three Italian cases in two families
-
Pini A, Mertini L, Tomé FMS, Chevally M, Gobbi G: Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: report of three Italian cases in two families. Brain Dev 1996, 18:316-322.
-
(1996)
Brain Dev
, vol.18
, pp. 316-322
-
-
Pini, A.1
Mertini, L.2
Tomé, F.M.S.3
Chevally, M.4
Gobbi, G.5
-
97
-
-
0029806196
-
Congenital muscular dystrophy with laminin α2 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 α2 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
-
98
-
-
0030220589
-
41st ENMC international workshop on congenital muscular dystrophy
-
Dubowitz V: 41st ENMC international workshop on congenital muscular dystrophy. Neuromusc Disord 1996, 6:295-306.
-
(1996)
Neuromusc Disord
, vol.6
, pp. 295-306
-
-
Dubowitz, V.1
-
99
-
-
85008070304
-
Laminin in animal models for muscular dystrophy: Defect of laminin M in skeletal and cardiac muscle and peripheral nerve of the homozygous dystrophic dy/dy mice
-
Arahata K, Hayashi YK, Koga R, Goto K, Lee JH, Miyagoe Y, Ishii H, Tsukahara T, Takeda S, Woo M, et al.: Laminin in animal models for muscular dystrophy: defect of laminin M in skeletal and cardiac muscle and peripheral nerve of the homozygous dystrophic dy/dy mice. Proc Jpn Acad 1993, 69B:259-264.
-
(1993)
Proc Jpn Acad
, vol.69 B
, pp. 259-264
-
-
Arahata, K.1
Hayashi, Y.K.2
Koga, R.3
Goto, K.4
Lee, J.H.5
Miyagoe, Y.6
Ishii, H.7
Tsukahara, T.8
Takeda, S.9
Woo, M.10
-
100
-
-
0028318185
-
Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus
-
Sunada Y, Bernier SM, Kozak CA, Yamada Y, Campbell KP: Deficiency of merosin in dystrophic dy mice and genetic linkage of laminin M chain gene to dy locus. J Biol Chem 1994, 269:13729-13732.
-
(1994)
J Biol Chem
, vol.269
, pp. 13729-13732
-
-
Sunada, Y.1
Bernier, S.M.2
Kozak, C.A.3
Yamada, Y.4
Campbell, K.P.5
-
101
-
-
0028334735
-
Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse
-
Xu H, Christmas P, Wu XR, Wewer UM, Engvall E: Defective muscle basement membrane and lack of M-laminin in the dystrophic dy/dy mouse. Proc Natl Acad Sci U S A 1994, 91:5572-5576.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 5572-5576
-
-
Xu, H.1
Christmas, P.2
Wu, X.R.3
Wewer, U.M.4
Engvall, E.5
-
102
-
-
0028135436
-
Murine muscular dystrophy caused by a mutation in the laminin alpha2 (Lama2) gene
-
Xu H, Wu XR, Wewer UM, Engvall E: Murine muscular dystrophy caused by a mutation in the laminin alpha2 (Lama2) gene. Nat Genet 1994, 8:297-302.
-
(1994)
Nat Genet
, vol.8
, pp. 297-302
-
-
Xu, H.1
Wu, X.R.2
Wewer, U.M.3
Engvall, E.4
-
104
-
-
0029992191
-
Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency
-
Minetti C, Bado M, Morreale G, Pedemonte M, Cordone G: Disruption of muscle basal lamina in congenital muscular dystrophy with merosin deficiency. Neurology 1996, 46:1354-1358.
-
(1996)
Neurology
, vol.46
, pp. 1354-1358
-
-
Minetti, C.1
Bado, M.2
Morreale, G.3
Pedemonte, M.4
Cordone, G.5
-
105
-
-
0029921917
-
Basement membrane abnormality in merosin-negative congenital muscular dystrophy
-
Osari S, Kobayashi O, Yamashita Y, Matsuishi T, Goto M, Tanabe Y, Migita T, Nonaka I: Basement membrane abnormality in merosin-negative congenital muscular dystrophy. Acta Neuropathol 1996, 91:332-336.
-
(1996)
Acta Neuropathol
, vol.91
, pp. 332-336
-
-
Osari, S.1
Kobayashi, O.2
Yamashita, Y.3
Matsuishi, T.4
Goto, M.5
Tanabe, Y.6
Migita, T.7
Nonaka, I.8
-
106
-
-
0030019062
-
Localization of merosin in the normal human brain: Implications for congenital muscular dystrophy with merosin deficiency
-
Villanova M, Malandrini A, Toti P, Salvestroni R, Six J, Martin JJ, Guazzi GC: Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol 1996, 28:1-4.
-
(1996)
J Submicrosc Cytol Pathol
, vol.28
, pp. 1-4
-
-
Villanova, M.1
Malandrini, A.2
Toti, P.3
Salvestroni, R.4
Six, J.5
Martin, J.J.6
Guazzi, G.C.7
-
107
-
-
0028584463
-
Prenatal detection of merosin expression in human placenta
-
Voit T, Fardeau M, Tome FM: Prenatal detection of merosin expression in human placenta [letter]. Neuropediatrics 1994, 25:332-333.
-
(1994)
Neuropediatrics
, vol.25
, pp. 332-333
-
-
Voit, T.1
Fardeau, M.2
Tome, F.M.3
-
108
-
-
0029877803
-
Congenital muscular dystrophy: Clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form
-
Kobayashi O, Hayashi Y, Arahata K, Ozawa E, Nonaka I: Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form. Neurology 1996, 46:815-818. Largest study of laminin α2-chain-positive patients in Japan, showing among other findings that there may be a late deterioration in muscle strength (beyond the age of 20 years).
-
(1996)
Neurology
, vol.46
, pp. 815-818
-
-
Kobayashi, O.1
Hayashi, Y.2
Arahata, K.3
Ozawa, E.4
Nonaka, I.5
-
109
-
-
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
-
110
-
-
0028939131
-
Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy
-
Toda T, Watanabe T, Matsumura K, Sunada Y, Yamada H, Nakano I, Mannen T, Kanazawa I, Shimizu T: Three-dimensional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. Muscle Nerve 1995, 18:508-517.
-
(1995)
Muscle Nerve
, vol.18
, pp. 508-517
-
-
Toda, T.1
Watanabe, T.2
Matsumura, K.3
Sunada, Y.4
Yamada, H.5
Nakano, I.6
Mannen, T.7
Kanazawa, I.8
Shimizu, T.9
-
111
-
-
0027992888
-
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy
-
Yoshioka M, Kuroki S: Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. Am J Med Genet 1994, 53:245-250.
-
(1994)
Am J Med Genet
, vol.53
, pp. 245-250
-
-
Yoshioka, M.1
Kuroki, S.2
-
112
-
-
0027364850
-
Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33
-
Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M, et al.: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet 1993, 5:283-286.
-
(1993)
Nat Genet
, vol.5
, pp. 283-286
-
-
Toda, T.1
Segawa, M.2
Nomura, Y.3
Nonaka, I.4
Masuda, K.5
Ishihara, T.6
Sakai, M.7
Tomita, I.8
Origuchi, Y.9
Suzuki, M.10
-
113
-
-
0028114849
-
Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: Evidence for strong linkage disequilibrium
-
Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, et al.: Refined mapping of a gene responsible for Fukuyama-type congenital muscular dystrophy: evidence for strong linkage disequilibrium. Am J Hum Genet 1994, 55:946-950.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 946-950
-
-
Toda, T.1
Ikegawa, S.2
Okui, K.3
Kondo, E.4
Saito, K.5
Fukuyama, Y.6
Yoshioka, M.7
Kumagai, T.8
Suzumori, K.9
Kanazawa, I.10
-
114
-
-
0027360897
-
Abnormal localization of laminin subunits in muscular dystrophies
-
Hayashi YK, Engvall E, Arikawa-Hirasawa E, Goto K, Koga R, Nonaka I, Sugita H, Arahata K: Abnormal localization of laminin subunits in muscular dystrophies. J Neurol Sci 1993, 119:53-64.
-
(1993)
J Neurol Sci
, vol.119
, pp. 53-64
-
-
Hayashi, Y.K.1
Engvall, E.2
Arikawa-Hirasawa, E.3
Goto, K.4
Koga, R.5
Nonaka, I.6
Sugita, H.7
Arahata, K.8
-
115
-
-
0027458810
-
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy
-
Matsumura K, Nonaka I, Campbell KP: Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy. Lancet 1993, 341:521-522.
-
(1993)
Lancet
, vol.341
, pp. 521-522
-
-
Matsumura, K.1
Nonaka, I.2
Campbell, K.P.3
-
116
-
-
0028098737
-
Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin
-
Higuchi I, Yamada H, Fukunaga H, Iwaki H, Okubo R, Nakagawa M, Osame M, Roberds SL, Shimizu T, Campbell KP, Matsumura K: Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in adhalin. J Clin Invest 1994, 94:601-606.
-
(1994)
J Clin Invest
, vol.94
, pp. 601-606
-
-
Higuchi, I.1
Yamada, H.2
Fukunaga, H.3
Iwaki, H.4
Okubo, R.5
Nakagawa, M.6
Osame, M.7
Roberds, S.L.8
Shimizu, T.9
Campbell, K.P.10
Matsumura, K.11
-
117
-
-
0029000061
-
Lissencephaly and other malformations of cortical development: 1995 update
-
Dobyns WB, Truwit CL: Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 1995, 26:132-147. Extensive review with good neuroimaging material and special consideration of the brain malformations associated with CMD.
-
(1995)
Neuropediatrics
, vol.26
, pp. 132-147
-
-
Dobyns, W.B.1
Truwit, C.L.2
-
118
-
-
0024539092
-
Diagnostic criteria for Walker-Warburg syndrome
-
Dobyns WB, Pagon RA, Armstrong D, Curry CJ, Greenberg F, Grix A, Holmes LB, Laxova R, Michels VV, Robinow M, et al.: Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989, 32:195-210.
-
(1989)
Am J Med Genet
, vol.32
, pp. 195-210
-
-
Dobyns, W.B.1
Pagon, R.A.2
Armstrong, D.3
Curry, C.J.4
Greenberg, F.5
Grix, A.6
Holmes, L.B.7
Laxova, R.8
Michels, V.V.9
Robinow, M.10
-
119
-
-
0027741349
-
Ocular findings in Walker-Warburg syndrome
-
Gerding H, Gullotta F, Kuchelmeister K, Busse H: Ocular findings in Walker-Warburg syndrome. Childs Nerv Syst 1993, 9:418-420.
-
(1993)
Childs Nerv Syst
, vol.9
, pp. 418-420
-
-
Gerding, H.1
Gullotta, F.2
Kuchelmeister, K.3
Busse, H.4
-
120
-
-
0028931768
-
Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome
-
Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y: Genetic identity of Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 1995, 37:99-101.
-
(1995)
Ann Neurol
, vol.37
, pp. 99-101
-
-
Toda, T.1
Yoshioka, M.2
Nakahori, Y.3
Kanazawa, I.4
Nakamura, Y.5
Nakagome, Y.6
-
121
-
-
0029055267
-
Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy
-
Voit T, Sewry CA, Meyer K, Hermann R, Straub V, Muntoni F, Kahn T, Unsold R, Helliwell TR, Appleton R, et al.: Preserved merosin M-chain (or laminin-alpha 2) expression in skeletal muscle distinguishes Walker-Warburg syndrome from Fukuyama muscular dystrophy and merosin-deficient congenital muscular dystrophy. Neuropediatr 1995, 26:148-155. Immunohistochemical evidence that Walker-Warburg syndrome may be distinct from Fukuyama CMD.
-
(1995)
Neuropediatr
, vol.26
, pp. 148-155
-
-
Voit, T.1
Sewry, C.A.2
Meyer, K.3
Hermann, R.4
Straub, V.5
Muntoni, F.6
Kahn, T.7
Unsold, R.8
Helliwell, T.R.9
Appleton, R.10
-
122
-
-
0029396750
-
Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy)
-
Wewer UM, Durkin ME, Zhang X, Laursen H, Nielsen NH, Towfighi J, Engvall E, Albrechtsen R: Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995, 45:2099-2101.
-
(1995)
Neurology
, vol.45
, pp. 2099-2101
-
-
Wewer, U.M.1
Durkin, M.E.2
Zhang, X.3
Laursen, H.4
Nielsen, N.H.5
Towfighi, J.6
Engvall, E.7
Albrechtsen, R.8
-
123
-
-
0024375162
-
Muscle-eye-brain disease (MEB)
-
Santavuori P, Somer H, Sainio K, Rapola J, Kruus S, Nikitin T, Ketonen L, Leisti J: Muscle-eye-brain disease (MEB). Brain Dev 1989, 11:147-153.
-
(1989)
Brain Dev
, vol.11
, pp. 147-153
-
-
Santavuori, P.1
Somer, H.2
Sainio, K.3
Rapola, J.4
Kruus, S.5
Nikitin, T.6
Ketonen, L.7
Leisti, J.8
-
124
-
-
0026703950
-
CNS in congenital muscular dystrophy without mental retardation
-
Pihko H, Louhimo T, Valanne L, Donner M: CNS in congenital muscular dystrophy without mental retardation. Neuropediatrics 1992, 23:116-122.
-
(1992)
Neuropediatrics
, vol.23
, pp. 116-122
-
-
Pihko, H.1
Louhimo, T.2
Valanne, L.3
Donner, M.4
-
125
-
-
0028914223
-
Ocular findings in muscle-eye-brain (MEB) disease: A follow-up study
-
Pihko H, Lappi M, Raitta C, Sainio K, Valanne L, Somer H, Santavuori P: Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study. Brain Dev 1995, 17:57-61.
-
(1995)
Brain Dev
, vol.17
, pp. 57-61
-
-
Pihko, H.1
Lappi, M.2
Raitta, C.3
Sainio, K.4
Valanne, L.5
Somer, H.6
Santavuori, P.7
-
126
-
-
0029012558
-
Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic
-
Ranta S, Pihko H, Santavuori P, Tahvanainen E, de la Chapelle A: Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic. Neuromusc Disord 1995, 5:221-225. Exclusion of the Finnish muscle-eye-brain disease from the Fukuyama locus on chromosome 9, thus demonstrating that these disorders are distinct.
-
(1995)
Neuromusc Disord
, vol.5
, pp. 221-225
-
-
Ranta, S.1
Pihko, H.2
Santavuori, P.3
Tahvanainen, E.4
De La Chapelle, A.5
-
127
-
-
34447494511
-
Muscle-eye-brain disease: A neuropathological study
-
in press
-
Haltia M, Leivo I, Sorner H, Pihko H, Paetau A, Kivela T, Tarkkanen A, Tome F, Engvall E, Santavouri P: Muscle-eye-brain disease: a neuropathological study. Ann Neurol 1996, in press.
-
(1996)
Ann Neurol
-
-
Haltia, M.1
Leivo, I.2
Sorner, H.3
Pihko, H.4
Paetau, A.5
Kivela, T.6
Tarkkanen, A.7
Tome, F.8
Engvall, E.9
Santavouri, P.10
-
128
-
-
0029149471
-
Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy
-
Brenman JE, Chao DS, Xia H, Aldape K, Bredt DS: Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy. Cell 1995, 82:743-752. Demonstration that neuronal nitric oxide synthase is associated with the complex of dystrophin-associated proteins and is reduced in DMD muscle.
-
(1995)
Cell
, vol.82
, pp. 743-752
-
-
Brenman, J.E.1
Chao, D.S.2
Xia, H.3
Aldape, K.4
Bredt, D.S.5
|