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Results: 1-25 | 26-31
Results: 1-25/31
A PUTATIVE RNA-BINDING MOTIF IS DETECTED BY COMPUTER-SEARCH IN THE ZEBRAFISH SMN GENE, AN ORTHOLOGUE OF THE SMA-DISEASE GENE
Authors: SOLANGE B CLERMONT O BURLET P CRUAUD C HUBER C FONDRAT C MUNNICH A LEFEBVRE S
Citation: B. Solange et al., A PUTATIVE RNA-BINDING MOTIF IS DETECTED BY COMPUTER-SEARCH IN THE ZEBRAFISH SMN GENE, AN ORTHOLOGUE OF THE SMA-DISEASE GENE, European journal of human genetics, 6, 1998, pp. 4054-4054
IMMUNODETECTION OF THE SMN PROTEIN IN FETAL HUMAN TISSUES
Authors: BURLET P BERTRANDY S CLERMONT O HUBER C MUNNICH A LEFEBVRE S
Citation: P. Burlet et al., IMMUNODETECTION OF THE SMN PROTEIN IN FETAL HUMAN TISSUES, European journal of human genetics, 6, 1998, pp. 5017-5017
THE DISTRIBUTION OF SMN PROTEIN COMPLEX IN HUMAN FETAL TISSUES AND ITS ALTERATION IN SPINAL MUSCULAR-ATROPHY
Authors: BURLET P HUBER C BERTRANDY S LUDOSKY MA ZWAENEPOEL I CLERMONT O ROUME J DELEZOIDE AL CARTAUD J MUNNICH A LEFEBVRE S
Citation: P. Burlet et al., THE DISTRIBUTION OF SMN PROTEIN COMPLEX IN HUMAN FETAL TISSUES AND ITS ALTERATION IN SPINAL MUSCULAR-ATROPHY, Human molecular genetics (Print), 7(12), 1998, pp. 1927-1933
CORRELATION BETWEEN SEVERITY AND SMN PROTEIN LEVEL IN SPINAL MUSCULAR-ATROPHY
Authors: LEFEBVRE S BURLET P LIU Q BERTRANDY S CLERMONT O MUNNICH A DREYFUSS G MELKI J
Citation: S. Lefebvre et al., CORRELATION BETWEEN SEVERITY AND SMN PROTEIN LEVEL IN SPINAL MUSCULAR-ATROPHY, Nature genetics, 16(3), 1997, pp. 265-269
CDNA ISOLATION, EXPRESSION, AND CHROMOSOMAL LOCALIZATION OF THE MOUSESURVIVAL MOTOR-NEURON GENE (SMN)
Authors: VIOLLET L BERTRANDY S BRUNIALTI ALB LEFEBVRE S BURLET P CLERMONT O CRUAUD C GUENET JL MUNNICH A MELKI J
Citation: L. Viollet et al., CDNA ISOLATION, EXPRESSION, AND CHROMOSOMAL LOCALIZATION OF THE MOUSESURVIVAL MOTOR-NEURON GENE (SMN), Genomics, 40(1), 1997, pp. 185-188
SMN GENE ANALYSIS OF THE SPINAL FORM OF CHARCOT-MARIE-TOOTH-DISEASE
Authors: HANASH A LEGUERN E BIROUK N CLERMONT O POUGET J BOUCHE P MUNNICH A BRICE A MELKI J
Citation: A. Hanash et al., SMN GENE ANALYSIS OF THE SPINAL FORM OF CHARCOT-MARIE-TOOTH-DISEASE, Journal of Medical Genetics, 34(6), 1997, pp. 507-508
CHARACTERIZATION OF THE RIBONUCLEOPROTEIN COMPLEX CONTAINING SMN, THESMA-CAUSING GENE-PRODUCT
Authors: LEFEBVRE S BURLET P BERTRANDY S CLERMONT O MUNNICH A
Citation: S. Lefebvre et al., CHARACTERIZATION OF THE RIBONUCLEOPROTEIN COMPLEX CONTAINING SMN, THESMA-CAUSING GENE-PRODUCT, American journal of human genetics, 61(4), 1997, pp. 1013-1013
IMMUNODETECTION OF THE SMN PROTEIN IN CONTROL AND SMA INDIVIDUALS
Authors: BURLET P BERTRANDY S CLERMONT O MUNNICH A LEFEBVRE S
Citation: P. Burlet et al., IMMUNODETECTION OF THE SMN PROTEIN IN CONTROL AND SMA INDIVIDUALS, American journal of human genetics, 61(4), 1997, pp. 1915-1915
MUTATION ANALYSES OF THE SMN GENE IN UNDELETED SMA PATIENTS
Authors: CLERMONT O BURLET P CRUAUD C BERTRANDY S MELKI J MUNNICH A LEFEBVRE S
Citation: O. Clermont et al., MUTATION ANALYSES OF THE SMN GENE IN UNDELETED SMA PATIENTS, American journal of human genetics, 61(4), 1997, pp. 1923-1923
THE SMN GENE IS CONSERVED DURING EVOLUTION
Authors: BERTRANDY S CLERMONT O BURLET P CRUAUD C FONDRAT C THIERRYMIEG D MUNNICH A LEFEBVRE S
Citation: S. Bertrandy et al., THE SMN GENE IS CONSERVED DURING EVOLUTION, American journal of human genetics, 61(4), 1997, pp. 2223-2223
FRAMESHIFT MUTATION IN THE SURVIVAL MOTOR-NEURON GENE IN A SEVERE CASE OF SMA TYPE-I
Authors: BRAHE C CLERMONT O ZAPPATA S TIZIANO F MELKI J NERI G
Citation: C. Brahe et al., FRAMESHIFT MUTATION IN THE SURVIVAL MOTOR-NEURON GENE IN A SEVERE CASE OF SMA TYPE-I, Human molecular genetics, 5(12), 1996, pp. 1971-1976
STRUCTURE AND ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON (SMN) GENE
Authors: BURGLEN L LEFEBVRE S CLERMONT O BURLET P VIOLLET L CRUAUD C MUNNICH A MELKI J
Citation: L. Burglen et al., STRUCTURE AND ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON (SMN) GENE, Genomics, 32(3), 1996, pp. 479-482
LARGE-SCALE DELETIONS OF THE 5Q13 REGION ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE
Authors: BURLET P BURGLEN L CLERMONT O LEFEBVRE S VIOLLET L MUNNICH A MELKI J
Citation: P. Burlet et al., LARGE-SCALE DELETIONS OF THE 5Q13 REGION ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE, Journal of Medical Genetics, 33(4), 1996, pp. 281-283
SURVIVAL MOTOR-NEURON GENE DELETION IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA-SPINAL MUSCULAR-ATROPHY ASSOCIATION
Authors: BURGLEN L AMIEL J VIOLLET L LEFEBVRE S BURLET P CLERMONT O RACLIN V LANDRIEU P VERLOES A MUNNICH A MELKI J
Citation: L. Burglen et al., SURVIVAL MOTOR-NEURON GENE DELETION IN THE ARTHROGRYPOSIS MULTIPLEX CONGENITA-SPINAL MUSCULAR-ATROPHY ASSOCIATION, The Journal of clinical investigation, 98(5), 1996, pp. 1130-1132
A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS
Authors: BUSSAGLIA E CLERMONT O TIZZANO E LEFEBVRE S BURGLEN L CRUAUD C URTIZBEREA JA COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS, Nature genetics, 11(3), 1995, pp. 335-337
LATE NEWS - CLONING AND CHARACTERIZATION OF A GENE ESSENTIAL FOR SPINAL MUSCULAR ATROPHIES
Authors: BURGLEN L LEFEBRE S REBOULLET S CLERMONT O BURLET P VIOLLET L BENICHOU B CRUAUD C MILLASSEAU P ZEVIANI M LEPASLIER D FREZAL J COHEN D WEISSENBACH J MUNNICH A MELKI J
Citation: L. Burglen et al., LATE NEWS - CLONING AND CHARACTERIZATION OF A GENE ESSENTIAL FOR SPINAL MUSCULAR ATROPHIES, MS. Medecine sciences, 11(1), 1995, pp. 149-150
SMN GENE DELETIONS IN ADULT-ONSET SPINAL MUSCULAR-ATROPHY
Authors: CLERMONT O BURLET P LEFEBVRE S BURGLEN L MUNNICH A MELKI J
Citation: O. Clermont et al., SMN GENE DELETIONS IN ADULT-ONSET SPINAL MUSCULAR-ATROPHY, Lancet, 346(8991-2), 1995, pp. 1712-1713
IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE
Authors: LEFEBVRE S BURGLEN L REBOULLET S CLERMONT O BURLET P VIOLLET L BENICHOU B CRUAUD C MILLASSEAU P ZEVIANI M LEPASLIER D FREZAL J COHEN D WEISSENBACH J MUNNICH A MELKI J
Citation: S. Lefebvre et al., IDENTIFICATION AND CHARACTERIZATION OF A SPINAL MUSCULAR ATROPHY-DETERMINING GENE, Cell, 80(1), 1995, pp. 155-165
LARGE DELETIONS INVOLVING SURVIVAL MOTOR-NEURON (SMN), NEURONAL APOPTOSIS INHIBITORY PROTEIN (NAIP) GENES AND MARKERS C212-C272 ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE
Authors: MELKI J BURLET P BURGLEN L CLERMONT O LEFEBVRE S VIOLLET L MUNNICH A
Citation: J. Melki et al., LARGE DELETIONS INVOLVING SURVIVAL MOTOR-NEURON (SMN), NEURONAL APOPTOSIS INHIBITORY PROTEIN (NAIP) GENES AND MARKERS C212-C272 ARE SPECIFIC TO WERDNIG-HOFFMANN DISEASE, American journal of human genetics, 57(4), 1995, pp. 142-142
GENOMIC ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON GENE (SMN)
Authors: BURGLEN L LEFEBVRE S BURLET P CLERMONT O VIOLLET L MUNNICH A MELKI J
Citation: L. Burglen et al., GENOMIC ORGANIZATION OF THE HUMAN SURVIVAL MOTOR-NEURON GENE (SMN), American journal of human genetics, 57(4), 1995, pp. 799-799
IMMUNODETECTION OF THE SURVIVAL MOTOR-NEURON GENE-PRODUCTS (SMN) IN CONTROLS AND SMA PATIENTS
Authors: LEFEBVRE S BURGLEN L BURLET P CLERMONT O VIOLLET L MUNNICH A MELKI J
Citation: S. Lefebvre et al., IMMUNODETECTION OF THE SURVIVAL MOTOR-NEURON GENE-PRODUCTS (SMN) IN CONTROLS AND SMA PATIENTS, American journal of human genetics, 57(4), 1995, pp. 828-828
IDENTIFICATION, COMPARATIVE MAPPING AND DEVELOPMENTAL STUDIES OF THE MOUSE HOMOLOG OF THE SMN GENE
Authors: VIOLLET L BURGLEN L LEFEBVRE S BURLET P CLERMONT O MUNNICH A MELKI J
Citation: L. Viollet et al., IDENTIFICATION, COMPARATIVE MAPPING AND DEVELOPMENTAL STUDIES OF THE MOUSE HOMOLOG OF THE SMN GENE, American journal of human genetics, 57(4), 1995, pp. 864-864
A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES
Authors: BUSSAGLIA E CLERMONT O TIZZANO EF LEFEBVRE S BURGLEN L CRUAUD C COLOMER J MUNNICH A BAIGET M MELKI J
Citation: E. Bussaglia et al., A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1204-1204
GENETIC-ANALYSIS OF UNUSUAL SMA PEDIGREES USING SMN, NAIP GENES AND MARKERS C212-C272
Authors: CLERMONT O BURGLEN L BURLET P LEFEBVRE S VIOLLET L HAUSMANOWAPETRUSEWICZ I MUNNICH A MELKI J
Citation: O. Clermont et al., GENETIC-ANALYSIS OF UNUSUAL SMA PEDIGREES USING SMN, NAIP GENES AND MARKERS C212-C272, American journal of human genetics, 57(4), 1995, pp. 1370-1370
INHERITED AND DE-NOVO DELETION OF THE 5Q1 3 REGION IN SPINAL MUSCULARATROPHIES
Authors: MELKI J LEFEBVRE S BURGLEN L BURLET P CLERMONT O MILLASSEAU P REBOULLET S BENICHOU B ZEVIANI M LEPASLIER D COHEN D WEISSENBACH J MUNNICH A
Citation: J. Melki et al., INHERITED AND DE-NOVO DELETION OF THE 5Q1 3 REGION IN SPINAL MUSCULARATROPHIES, MS. Medecine sciences, 10(8-9), 1994, pp. 889-891
Risultati: 1-25 | 26-31