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Results: 1-11 |
Results: 11
EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT
Authors: FOUGEROUSSE F DURAND M SUEL L POURQUIE O DELEZOIDE AL ROMERO NB ABITBOL M BECKMANN JS
Citation: F. Fougerousse et al., EXPRESSION OF GENES (CAPN3, SGCA, SGCB, AND TTN) INVOLVED IN PROGRESSIVE MUSCULAR-DYSTROPHIES DURING EARLY HUMAN-DEVELOPMENT, Genomics, 48(2), 1998, pp. 145-156
A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI
Authors: ROMERO NB RECAN D RIGAL O LETURCQ F LLENSE S BARBOT JC DEBURGRAVE N CHEVAL MA DENIAU F KAPLAN JC
Citation: Nb. Romero et al., A POINT MUTATION IN THE GLYCEROL KINASE GENE ASSOCIATED WITH A DELETION IN THE DYSTROPHIN GENE IN A FAMILIAL X-LINKED MUSCULAR-DYSTROPHY - NONCONTIGUOUS GENE SYNDROME INVOLVING BECKER MUSCULAR-DYSTROPHY AND GLYCEROL KINASE LOCI, Neuromuscular disorders, 7(8), 1997, pp. 499-504
PRIMARY ADHALINOPATHY (ALPHA-SARCOGLYCANOPATHY) - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATION IN 20 PATIENTS WITH AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
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
MORPHOLOGICAL-STUDIES OF SKELETAL-MUSCLE IN LACTIC-ACIDOSIS
Authors: ROMERO NB LOMBES A TOUATI G RIGAL O FRACHON P CHEVAL MA GIRAUD M POSSEKEL S FARDEAU M DEBAULNY HO
Citation: Nb. Romero et al., MORPHOLOGICAL-STUDIES OF SKELETAL-MUSCLE IN LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 19(4), 1996, pp. 528-534
CLINICAL AND MOLECULAR HETEROGENEITY OF CYTOCHROME-C-OXIDASE DEFICIENCY IN THE NEWBORN
Authors: LOMBES A ROMERO NB TOUATI G FRACHON P CHEVAL MA GIRAUD M SIMON D DEBAULNY HO
Citation: A. Lombes et al., CLINICAL AND MOLECULAR HETEROGENEITY OF CYTOCHROME-C-OXIDASE DEFICIENCY IN THE NEWBORN, Journal of inherited metabolic disease, 19(3), 1996, pp. 286-295
ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS
Authors: EYMARD B ROMERO NB LETURCQ F CARRIE A PICCOLO F COLLIN H KAPLAN JC TOME FMS FARDEAU M AZIBI K CHAOUCH M MERLINI L PENISSON I SEFIANI A CAMPBELL KP
Citation: B. Eymard et al., ADHALIN-DEFICIENT MUSCULAR-DYSTROPHIES - CLINICAL, PATHOLOGICAL, AND GENETIC CORRELATIONS, Neurology, 46(2), 1996, pp. 68006-68006
PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY
Authors: PICCOLO F ROBERDS SL JEANPIERRE M LETURCQ F AZIBI K BELDJORD C CARRIE A RECAN D CHAOUCH M REGHIS A ELKERCH F SEFIANI A VOIT T MERLINI L COLLIN H EYMARD B BECKMANN JS ROMERO NB TOME FMS FARDEAU M CAMPBELL KP KAPLAN JC
Citation: F. Piccolo et al., PRIMARY ADHALINOPATHY - A COMMON-CAUSE OF AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY OF VARIABLE SEVERITY, Nature genetics, 10(2), 1995, pp. 243-245
IMMUNOHISTOCHEMICAL ANALYSIS OF MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN CHILDREN
Authors: POSSEKEL S LOMBES A DEBAULNY HO CHEVAL MA FARDEAU M KADENBACH B ROMERO NB
Citation: S. Possekel et al., IMMUNOHISTOCHEMICAL ANALYSIS OF MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY IN CHILDREN, HISTOCHEM C, 103(1), 1995, pp. 59-68
GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY
Authors: ROMERO NB TOME FMS LETURCQ F ELKERCH F AZIBI K BACHNER L ANDERSON RD ROBERDS SL CAMPBELL KP FARDEAU M KAPLAN JC
Citation: Nb. Romero et al., GENETIC-HETEROGENEITY OF SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH ADHALIN (50 KDA DYSTROPHY-ASSOCIATED GLYCOPROTEIN) DEFICIENCY, Comptes rendus de l'Academie des sciences. Serie 3, Sciences de la vie, 317(1), 1994, pp. 70-76
MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Authors: ROBERDS SL LETURCQ F ALLAMAND V PICCOLO F JEANPIERRE M ANDERSON RD LIM LE LEE JC TOME FMS ROMERO NB FARDEAU M BECKMANN JS KAPLAN JC CAMPBELL KP
Citation: Sl. Roberds et al., MISSENSE MUTATIONS IN THE ADHALIN GENE LINKED TO AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, Cell, 78(4), 1994, pp. 625-633
DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS LACKING COOH-TERMINAL DOMAINS OF DYSTROPHIN
Authors: MATSUMURA K TOME FMS IONASESCU V ERVASTI JM ANDERSON RD ROMERO NB SIMON D RECAN D KAPLAN JC FARDEAU M CAMPBELL KP
Citation: K. Matsumura et al., DEFICIENCY OF DYSTROPHIN-ASSOCIATED PROTEINS IN DUCHENNE MUSCULAR-DYSTROPHY PATIENTS LACKING COOH-TERMINAL DOMAINS OF DYSTROPHIN, The Journal of clinical investigation, 92(2), 1993, pp. 866-871
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