AAAAAA

   
Results: 1-15 |
Results: 15
A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B
Authors: BASHIR R BRITTON S STRACHAN T KEERS S VAFIADAKI E LAKO M RICHARD I MARCHAND S BOURG N ARGOV Z SADEH M MAHJNEH I MARCONI G PASSOSBUENO MR MOREIRA ED ZATZ M BECKMANN JS BUSHBY K
Citation: R. Bashir et al., A GENE-RELATED TO CAENORHABDITIS-ELEGANS SPERMATOGENESIS FACTOR FER-1IS MUTATED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2B, Nature genetics, 20(1), 1998, pp. 37-42
BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE
Authors: DUCLOS F BROUX O BOURG N STRAUB V FELDMAN GL SUNADA Y LIM LE PICCOLO F CUTSHALL S GARY F QUETIER F KAPLAN JC JACKSON CE BECKMANN JS CAMPBELL KP
Citation: F. Duclos et al., BETA-SARCOGLYCAN - GENOMIC ANALYSIS AND IDENTIFICATION OF A NOVEL MISSENSE MUTATION IN THE LGMD2E AMISH ISOLATE, Neuromuscular disorders, 8(1), 1998, pp. 30-38
IDENTIFICATION OF MUSCLE-SPECIFIC CALPAIN AND BETA-SARCOGLYCAN GENES IN PROGRESSIVE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES
Authors: BECKMANN JS RICHARD I BROUX O FOUGEROUSSE F ALLAMAND V CHIANNILKULCHAI N LIM LE DUCLOS F BOURG N BRENGUIER L PASTURAUD P QUETIER F ROUDAUT C SUNADA Y MEYER J DINCER P LEFRANC G MERLINI L TOPALOGLU H TOME FMS COHEN D JACKSON CE CAMPBELL KP FARDEAU M
Citation: Js. Beckmann et al., IDENTIFICATION OF MUSCLE-SPECIFIC CALPAIN AND BETA-SARCOGLYCAN GENES IN PROGRESSIVE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES, Neuromuscular disorders, 6(6), 1996, pp. 455-462
BETA-SARCOGLYCAN - CHARACTERIZATION AND ROLE IN LIMB-GIRDLE MUSCULAR-DYSTROPHY LINKED TO 4Q12
Authors: LIM LE DUCLOS F BROUX O BOURG N SUNADA Y ALLAMAND V MEYER J RICHARD IZ MOOMAW C SLAUGHTER C TOME FMS FARDEAU M JACKSON CE BECKMANN JS CAMPBELL KP
Citation: Le. Lim et al., BETA-SARCOGLYCAN - CHARACTERIZATION AND ROLE IN LIMB-GIRDLE MUSCULAR-DYSTROPHY LINKED TO 4Q12, Nature genetics, 11(3), 1995, pp. 257-265
CHARACTERIZATION OF A 43 KDA COMPONENT OF THE DYSTROPHIN-GLYCOPROTEINCOMPLEX AND INVOLVEMENT IN A NOVEL FORM OF RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: LIM LE DUCLOS F BROUX O BOURG N SUNADA Y ALLAMAND V MEYER J RICHARD I MOOMAW C SLAUGHTER C JACKSON CE BECKMANN JS CAMPBELL KP
Citation: Le. Lim et al., CHARACTERIZATION OF A 43 KDA COMPONENT OF THE DYSTROPHIN-GLYCOPROTEINCOMPLEX AND INVOLVEMENT IN A NOVEL FORM OF RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, Molecular biology of the cell, 6, 1995, pp. 881-881
GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS
Authors: ALLAMAND V BROUX O BOURG N RICHARD I TISCHFIELD JA HODES ME CONNEALLY PM FARDEAU M JACKSON CE BECKMANN JS
Citation: V. Allamand et al., GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS, Human molecular genetics, 4(3), 1995, pp. 459-463
A GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY CODES FOR A PROTEASE, CALPAIN-3
Authors: RICHARD I BROUX O ALLAMAND V FOUGEROUSSE F CHIANNILKULCHAI N BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C HILLAIRE D PASSOSBUENO MR ZATZ M TISCHFIELD JA FARDEAU M JACKSON CE COHEN D BECKMANN JS
Citation: I. Richard et al., A GENE FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY CODES FOR A PROTEASE, CALPAIN-3, MS. Medecine sciences, 11(4), 1995, pp. 637-640
BETA-SARCOGLYCAN - A PROTEIN OF THE DYSTR OPHIN-GLYCOPROTEINS COMPLEX, IS RESPONSIBLE FOR RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: DUCLOS F LIM LE SUNADA Y MEYER J CAMPBELL KP BROUX O BOURG N ALLAMAND V RICHARD I BECKMANN JS MOOMAW C SLAUGHTER C TOME FMS FARDEAU M JACKSON CE
Citation: F. Duclos et al., BETA-SARCOGLYCAN - A PROTEIN OF THE DYSTR OPHIN-GLYCOPROTEINS COMPLEX, IS RESPONSIBLE FOR RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, MS. Medecine sciences, 11(12), 1995, pp. 1732-1738
MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A
Authors: RICHARD I BROUX O ALLAMAND V FOUGEROUSSE F CHIANNILKULCHAI N BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C HILLAIRE D PASSOSBUENO MR ZATZ M TISCHFIELD JA FARDEAU M JACKSON CE COHEN D BECKMANN JS
Citation: I. Richard et al., MUTATIONS IN THE PROTEOLYTIC-ENZYME CALPAIN-3 CAUSE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2A, Cell, 81(1), 1995, pp. 27-40
PREFERENTIAL LOCALIZATION OF THE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A GENE IN THE PROXIMAL PART OF A 1-CM 15Q15.1-Q15.3 INTERVAL
Authors: ALLAMAND V BROUX O RICHARD I FOUGEROUSSE F CHIANNILKULCHAI N BOURG N BRENGUIER L DEVAUD C PASTURAUD P DESOUZA AP ROUDAUT C TISCHFIELD JA CONNEALLY PM FARDEAU M COHEN D JACKSON CE BECKMANN JS
Citation: V. Allamand 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, American journal of human genetics, 56(6), 1995, pp. 1417-1430
MAPPING OF A CHROMOSOME-15 REGION INVOLVED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: FOUGEROUSSE F BROUX O RICHARD I ALLAMAND V DESOUZA AP BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C CHIANNILKULCHAI N HILLAIRE D BUI H CHUMAKOV I WEISSENBACH J CHERIF D COHEN D BECKMANN JS
Citation: F. Fougerousse et al., MAPPING OF A CHROMOSOME-15 REGION INVOLVED IN LIMB-GIRDLE MUSCULAR-DYSTROPHY, Human molecular genetics, 3(2), 1994, pp. 285-293
REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI
Authors: RICHARD I BROUX O CHIANNILKULCHAI N FOUGEROUSSE F ALLAMAND V BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C LORENZO F SEBASTIANIKABATCHIS C SCHULTZ RA POLYMEROPOULOS MH GYAPAY G AUFFRAY C BECKMANN JS
Citation: I. Richard et al., REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI, Genomics, 23(3), 1994, pp. 619-627
TOWARDS THE IDENTIFICATION OF A GENE FOR LGMD2
Authors: FOUGEROUSSE F BROUX O RICHARD I ALLAMAND V DESOUZA AP BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C CHIANNIKULCHAI N HILLAIRE D BUI H CHUMAKOVV I WEISSENBACH J CHERIF D COHEN D BECKMANN JS
Citation: F. Fougerousse et al., TOWARDS THE IDENTIFICATION OF A GENE FOR LGMD2, Cytogenetics and cell genetics, 67(1), 1994, pp. 20-20
REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI
Authors: RICHARD I BROUX O CHIANNIKULCHAI N FOUGEROUSSE F ALLAMAND V BOURG N BRENGUIER L DEVAUD C PASTURAUD P ROUDAUT C POLYMEROPOULOS M SCHULTZ R COHEN D BECKMANN JS
Citation: I. Richard et al., REGIONAL LOCALIZATION OF HUMAN-CHROMOSOME-15 LOCI, Cytogenetics and cell genetics, 67(1), 1994, pp. 22-22
DINUCLEOTIDE REPEAT AT THE D15S129 LOCUS
Authors: RICHARD I BOURG N BECKMAN JS
Citation: I. Richard et al., DINUCLEOTIDE REPEAT AT THE D15S129 LOCUS, Human molecular genetics, 2(12), 1993, pp. 2199-2199
Risultati: 1-15 |