Authors:
BRAIS B
BOUCHARD JP
XIE YG
ROCHEFORT DL
CHRETIEN N
TOME FMS
LAFRENIERE RG
ROMMENS JM
UYAMA E
NOHIRA O
BLUMEN S
KORCYN AD
HEUTINK P
MATHIEU J
DURANCEAU A
CODERE F
FARDEAU M
ROULEAU GA
Citation: B. Brais et al., SHORT GCG EXPANSIONS IN THE PABP2 GENE CAUSE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Nature genetics, 18(2), 1998, pp. 164-167
Authors:
MOGHADASZADEH B
DESGUERRE I
TOPALOGLU H
MUNTONI F
PAVEK S
MAYER M
SEWRY C
FARDEAU M
TOME FMS
GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36, European journal of human genetics, 6, 1998, pp. 506-506
Citation: E. Uyama et al., AUTOSOMAL RECESSIVE OCULOPHARYNGODISTAL MYOPATHY IN LIGHT OF DISTAL MYOPATHY WITH RIMMED VACUOLES AND OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 8(2), 1998, pp. 119-125
Authors:
BRAIS B
BOUCHARD JP
TOME FMS
FARDEAU M
CODERE F
DURANCEAU A
ROULEAU GA
Citation: B. Brais et al., GENETIC-EVIDENCE FOR THE INVOLVEMENT OF OTHER GENES IN MODULATING THESEVERITY OF OCULOPHARYNGEAL MUSCULAR-DYSTROPHY, Annals of neurology, 44(3), 1998, pp. 59-59
Authors:
UYAMA E
BRAIS B
NOHIRA O
TOKUNAGA M
CHATEAU D
TOME FMS
ROULEAU GA
UCHINO M
Citation: E. Uyama et al., OCULOPHARYNGEAL MUSCULAR-DYSTROPHY - PHENOTYPE GENOTYPE DIFFERENCE IN2 UNRELATED JAPANESE FAMILIES/, Annals of neurology, 44(3), 1998, pp. 146-146
Authors:
TOME FMS
HE Y
CHEVALLAY M
NICOLAS V
CRUAUD C
HORI H
MIZUTA T
ESTOURNET B
BAROIS A
FARDEAU M
GUICHENEY P
Citation: Fms. Tome et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PARTIAL LAMININ ALPHA-2 CHAIN (MEROSIN) DEFICIENCY - IMMUNOCYTOCHEMICAL AND MOLECULAR STUDIES, Neurology, 50(4), 1998, pp. 15004-15004
Authors:
GUICHENEY P
VIGNIER N
ZHANG X
HE Y
CRUAUD C
FREY V
HELBLINGLECLERC A
RICHARD P
ESTOURNET B
MERLINI L
TOPALOGLU H
MORA M
HARPEY JP
HAENGGELI CA
BAROIS A
HAINQUE B
SCHWARTZ K
TOME FMS
FARDEAU M
TRYGGVASON K
Citation: P. Guicheney et al., PCR BASED MUTATION SCREENING OF THE LAMININ ALPHA-2 CHAIN GENE (LAMA2) - APPLICATION TO PRENATAL-DIAGNOSIS AND SEARCH FOR FOUNDER EFFECTS IN CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(3), 1998, pp. 211-217
Authors:
ANDERSON LVB
DAVISON K
MOSS JA
RICHARD I
FARDEAU M
TOME FMS
HUBNER C
LASA A
COLOMER J
BECKMANN JS
Citation: Lvb. Anderson et al., CHARACTERIZATION OF MONOCLONAL-ANTIBODIES TO CALPAIN-3 AND PROTEIN EXPRESSION IN MUSCLE FROM PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2A, The American journal of pathology, 153(4), 1998, pp. 1169-1179
Authors:
MOGHADASZADEH B
DESGUERRE I
TOPALOGLU H
MUNTONI FN
PAVEK S
SEWRY C
MAYER M
FARDEAU M
TOME FMS
GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR A PECULIAR FORM OF CONGENITAL MUSCULAR-DYSTROPHY WITH EARLY RIGIDITY OF THE SPINE, ON CHROMOSOME 1P35-36, American journal of human genetics, 62(6), 1998, pp. 1439-1445
Authors:
GUICHENEY P
VIGNIER N
HELBLINGLECLERC A
NISSINEN M
ZHANG X
CRUAUD C
LAMBERT JC
RICHELME C
TOPALOGLU H
MERLINI L
BAROIS A
SCHWARTZ K
TOME FMS
TRYGGVASON K
FARDEAU M
Citation: P. Guicheney et al., GENETICS OF LAMININ ALPHA-2 CHAIN (OR MEROSIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY - FROM IDENTIFICATION OF MUTATIONS TO PRENATAL-DIAGNOSIS, Neuromuscular disorders, 7(3), 1997, pp. 180-186
Authors:
BRAIS B
BOUCHARD JP
GOSSELIN F
XIE YG
FARDEAU M
TOME FMS
ROULEAU GA
Citation: B. Brais et al., USING THE FULL POWER OF LINKAGE ANALYSIS IN 11 FRENCH-CANADIAN FAMILIES TO FINE MAP THE OCULOPHARYNGEAL MUSCULAR-DYSTROPHY GENE, Neuromuscular disorders, 7, 1997, pp. 70-74
Authors:
EYMARD B
ROMERO NB
LETURCQ F
PICCOLO F
CARRIE A
JEANPIERRE M
COLLIN H
DEBURGRAVE N
AZIBI K
CHAOUCH M
MERLINI L
THEMARNOEL C
PENISSON I
MAYER M
TANGUY O
CAMPBELL KP
KAPLAN JC
TOME FMS
FARDEAU M
Citation: B. Eymard et al., PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, Neurology, 48(5), 1997, pp. 1227-1234
Authors:
FARDEAU M
EYMARD B
MIGNARD C
TOME FMS
RICHARD I
BECKMANN JS
Citation: M. Fardeau et al., CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - COMPARISON OF THE CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES, Neurology, 48(3), 1997, pp. 21004-21004
Authors:
CARRIE A
PICCOLO F
LETURCQ F
DETOMA C
AZIBI K
BELDJORD C
VALLAT JM
MERLINI L
VOIT T
SEWRY C
URTIZBEREA JA
ROMERO N
TOME FMS
FARDEAU M
SUNADA Y
CAMPBELL KP
KAPLAN JC
JEANPIERRE M
Citation: A. Carrie et al., MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D), Journal of Medical Genetics, 34(6), 1997, pp. 470-475
Authors:
KHURANA TS
SPECHT LA
BEGGS AH
TOME FMS
LETUREQ F
CHEVALLAY M
CHAFEY P
KUNKEL LM
Citation: Ts. Khurana et al., THE CONCOMITANT USE OF DYSTROPHIN AND UTROPHIN DYSTROPHIN RELATED PROTEIN ANTIBODIES TO REDUCE MISDIAGNOSIS OF DUCHENNE/BECKER-MUSCULAR-DYSTROPHY/, Biochemical and biophysical research communications, 241(2), 1997, pp. 232-235
Authors:
PICCOLO F
JEANPIERRE M
LETURCQ F
DODE C
AZIBI K
TOUTAIN A
MERLINI L
JARRE L
NAVARRO C
KRISHNAMOORTHY R
TOME FMS
URTIZBEREA JA
BECKMANN JS
CAMPBELL KP
KAPLAN JC
Citation: F. Piccolo et al., A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA, Human molecular genetics, 5(12), 1996, pp. 2019-2022
Authors:
FARDEAU M
EYMARD B
MIGNARD C
TOME FMS
RICHARD I
BECKMANN JS
Citation: M. Fardeau et al., CHROMOSOME 15-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY - CLINICAL PHENOTYPES IN REUNION ISLAND AND FRENCH METROPOLITAN COMMUNITIES, Neuromuscular disorders, 6(6), 1996, pp. 447-453
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
Authors:
JEANPIERRE M
CARRIE A
PICCOLO F
LETURCQ F
AZIBI K
DETOMA C
BELDJORD C
MERLINI L
VOIT T
ROMERO N
SUNADA Y
TOME FMS
FARDEAU M
CAMPBELL KP
KAPLAN JC
Citation: M. Jeanpierre et al., FROM ADHALINOPATHIES TO ALPHA-SARCOGLYCANOPATHIES - AN OVERVIEW, Neuromuscular disorders, 6(6), 1996, pp. 463-465