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Results: 1-18 |
Results: 18
DYSFERLIN, A NOVEL SKELETAL-MUSCLE GENE, IS MUTATED IN MIYOSHI MYOPATHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: LIU J AOKI M ILLA I WU CY FARDEAU M ANGELINI C SERRANO C URTIZBEREA JA HENTATI F BENHAMIDA M BOHLEGA S CULPER EJ AMATO AA BOSSIE K OELTJEN T BEJAOUI K MCKENNAYASEK D HOSLER BA SCHURR E ARAHATA K DEJONG PJ BROWN RH
Citation: J. Liu et al., DYSFERLIN, A NOVEL SKELETAL-MUSCLE GENE, IS MUTATED IN MIYOSHI MYOPATHY AND LIMB-GIRDLE MUSCULAR-DYSTROPHY, Nature genetics, 20(1), 1998, pp. 31-36
SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE
Authors: LASA A PICCOLO F DEDIEGO C JEANPIERRE M COLOMER J RODRIGUEZ MJ URTIZBEREA JA BAIGET M KAPLAN JC GALLANO P
Citation: A. Lasa et al., SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN SPANISH GYPSIES - FURTHER EVIDENCE FOR A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE, European journal of human genetics, 6(4), 1998, pp. 396-399
AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH
Authors: SANTOS HG SANTOS R VASCONCELOS R FERNANDES HC FREITAS C LETURCQ F KAPLAN JC URTIZBEREA JA
Citation: Hg. Santos et al., AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHIES IN PATIENTS FROM MADEIRA ISLAND - A CLINICAL AND GENETIC APPROACH, European journal of human genetics, 6, 1998, pp. 1114-1114
GENETIC-LINKAGE OF PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA TO A 3-CM INTERVAL OF CHROMOSOME 6Q22
Authors: FISCHER J URTIZBEREA JA PAVEK S VANDIEDONCK C BRULS T SAKER S ALKATIP Y PRUDHOMME JF WEISSENBACH J
Citation: J. Fischer et al., GENETIC-LINKAGE OF PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA TO A 3-CM INTERVAL OF CHROMOSOME 6Q22, Human genetics, 103(1), 1998, pp. 60-64
THE CLINICAL-GENETIC CLASSIFICATION OF MUSCULAR-DYSTROPHIES
Authors: DEMUNAIN AL URTIZBEREA JA
Citation: Al. Demunain et Ja. Urtizberea, THE CLINICAL-GENETIC CLASSIFICATION OF MUSCULAR-DYSTROPHIES, Medicina Clinica, 111(6), 1998, pp. 226-235
CLINICAL PRESENTATION AND GENETIC LOCALIZATION OF A NEW FORM OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY
Authors: DUBOC D BONNE G BECANE HM DIBARLETTA MR VARNOUS S ELHADI H URTIZBEREA JA TONIOLO D FARDEAU M SCHWARTZ K
Citation: D. Duboc et al., CLINICAL PRESENTATION AND GENETIC LOCALIZATION OF A NEW FORM OF AUTOSOMAL-DOMINANT DILATED CARDIOMYOPATHY, Circulation, 98(17), 1998, pp. 1552-1552
LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Authors: URTASUN M SAENZ A ROUDAUT C POZA JJ URTIZBEREA JA COBO AM RICHARD I BRAGADO FG LETURCQ F KAPLAN JC MASSO JFM BECKMANN JS DEMUNAIN AL
Citation: M. Urtasun et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN), Brain (Print), 121, 1998, pp. 1735-1747
A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY
Authors: DINCER P LETURCQ F RICHARD I PICCOLO F YALNIZOGLU D DETOMA C AKCOREN Z BROUX O DEBURGRAVE N BRENGUIER L ROUDAUT C URTIZBEREA JA JUNG D TAN E JEANPIERRE M CAMPBELL KP KAPLAN JC BECKMANN JS TOPALOGLU H
Citation: P. Dincer et al., A BIOCHEMICAL, GENETIC, AND CLINICAL SURVEY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES IN TURKEY, Annals of neurology, 42(2), 1997, pp. 222-229
CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD
Authors: TOPALOGLU H DINCER P RICHARD I AKCOREN Z ALEHAN D OZME S CAGLAR M KARADUMAN A URTIZBEREA JA BECKMANN JS
Citation: H. Topaloglu et al., CALPAIN-3 DEFICIENCY CAUSES A MILD MUSCULAR-DYSTROPHY IN CHILDHOOD, Neuropediatrics, 28(4), 1997, pp. 212-216
MUTATIONAL DIVERSITY AND HOT-SPOTS IN THE ALPHA-SARCOGLYCAN GENE IN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY (LGMD2D)
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
ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS
Authors: JEANPIERRE M PICCOLO F MARIN V LETURCQ F URTIZBEREA JA KAPLAN JC
Citation: M. Jeanpierre et al., ANCESTRAL HAPLOTYPES AS GENETIC CLOCKS, American journal of human genetics, 61(4), 1997, pp. 1163-1163
LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CALPAIN DEFICIENCY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN)
Authors: URTIZBEREA JA URTASUN M RICHARD I SAENZ A POZA JJ COBO AM DEMUNAIN L BECKMANN JS
Citation: Ja. Urtizberea et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY WITH CALPAIN DEFICIENCY IN GUIPUZCOA (BASQUE COUNTRY, SPAIN), American journal of human genetics, 61(4), 1997, pp. 1240-1240
PENETRANCE OF THE FSHD MUTATION DIFFERS ACCORDING TO THE D4Z4 REPEAT NUMBER
Authors: PICCOLO F DETOMA C CHIRON S LAFORET P URTIZBEREA JA EYMARD B FARDEAU M KAPLAN JC JEANPIERRE M
Citation: F. Piccolo et al., PENETRANCE OF THE FSHD MUTATION DIFFERS ACCORDING TO THE D4Z4 REPEAT NUMBER, American journal of human genetics, 61(4), 1997, pp. 1856-1856
A FOUNDER MUTATION IN THE GAMMA-SARCOGLYCAN GENE OF GYPSIES POSSIBLY PREDATING THEIR MIGRATION OUT OF INDIA
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
EFFECTIVENESS OF SINGLE-DRUG PYRIMETHAMIN E FOR TOXOPLASMOSIS PROPHYLAXY IN AIDS
Authors: DETRUCHIS P FLAMENTSAILLOUR M RISBOURG M URTIZBEREA JA DOURNON E
Citation: P. Detruchis et al., EFFECTIVENESS OF SINGLE-DRUG PYRIMETHAMIN E FOR TOXOPLASMOSIS PROPHYLAXY IN AIDS, La Presse medicale, 25(24), 1996, pp. 1125-1125
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
READJUSTING THE LOCALIZATION OF MEROSIN ( LAMININ ALPHA-2-CHAIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY LOCUS ON CHROMOSOME 6Q2
Authors: HELBLINGLECLERC A TOPALOGLU H TOME FMS SEWRY C GYAPAY G NOAM I MUNTONI F DUBOWITZ V BAROIS A ESTOURNET B URTIZBEREA JA WEISSENBACH J SCHWARTZ K FARDEAU M GUICHENEY P
Citation: A. Helblingleclerc et al., READJUSTING THE LOCALIZATION OF MEROSIN ( LAMININ ALPHA-2-CHAIN) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY LOCUS ON CHROMOSOME 6Q2, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 318(12), 1995, pp. 1245-1252
INEFFICACY OF CYTARABINE IN PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN AIDS
Authors: DETRUCHIS P FLAMENTSAILLOUR M URTIZBEREA JA HASSINE D CLAIR B
Citation: P. Detruchis et al., INEFFICACY OF CYTARABINE IN PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY IN AIDS, Lancet, 342(8871), 1993, pp. 622-623
Risultati: 1-18 |