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Results: 1-16 |
Results: 16
CAVEOLIN-3 IN MUSCULAR-DYSTROPHY
Authors: MCNALLY EM MOREIRA ED DUGGAN DJ LISANTI MP LIDOV HGW VAINZOF M BONNEMANN CG PASSOSBUENO MR HOFFMAN EP ZATZ M KUNKEL LM
Citation: Em. Mcnally et al., CAVEOLIN-3 IN MUSCULAR-DYSTROPHY, Human molecular genetics, 7(5), 1998, pp. 871-877
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Authors: ANGELINI C FANIN M MENEGAZZO E FREDA MP DUGGAN DJ HOFFMAN EP
Citation: C. Angelini et al., HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT, Muscle & nerve, 21(6), 1998, pp. 769-775
MUTATIONS IN THE SARCOGLYCAN GENES IN PATIENTS WITH MYOPATHY
Authors: DUGGAN DJ GOROSPE JR FANIN M HOFFMAN EP ANGELINI C PEGORARO E NOGUCHI S OZAWA E PENDLEBURY W WACLAWIK AJ DUENAS DA HAUSMANOWAPETRUSEWICZ I FIDZIANSKA A BEAN SC HALLER JS BODENSTEINER J GRECO CM PESTRONK A BERARDINELLI A GELINAS DF ABRAM H KUNEL RW
Citation: Dj. Duggan et al., MUTATIONS IN THE SARCOGLYCAN GENES IN PATIENTS WITH MYOPATHY, The New England journal of medicine, 336(9), 1997, pp. 618-624
HETEROGENEOUS CLINICAL SPECTRUM OF SARCOGLYCANOPATHIES
Authors: ANGELINI C FANIN M DUGGAN DJ PEGORARO E HOFFMAN EP
Citation: C. Angelini et al., HETEROGENEOUS CLINICAL SPECTRUM OF SARCOGLYCANOPATHIES, Neurology, 48(3), 1997, pp. 21003-21003
MUTATIONS IN THE DELTA-SARCOGLYCAN GENE (LGMD2F) ARE A RARE CAUSE OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: DUGGAN DJ MANCHESTER D STEARS KP MATHEWS DJ HART C HOFFMAN EP
Citation: Dj. Duggan et al., MUTATIONS IN THE DELTA-SARCOGLYCAN GENE (LGMD2F) ARE A RARE CAUSE OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neurology, 48(3), 1997, pp. 49001-49001
GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS
Authors: FANIN M DUGGAN DJ MOSTACCIUOLO ML MARTINELLO F FREDA MP SORARU G TREVISAN CP HOFFMAN EP
Citation: M. Fanin et al., GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS, Journal of Medical Genetics, 34(12), 1997, pp. 973-977
CONCOMITANT LOSS OF THE SARCOGLYCAN PROTEINS IN EACH OF THE SARCOGLYCANOPATHY-ALPHA, SARCOGLYCANOPATHY-BETA, SARCOGLYCANOPATHY-GAMMA AND SARCOGLYCANOPATHY-DELTA
Authors: DUGGAN DJ HOFFMAN EP
Citation: Dj. Duggan et Ep. Hoffman, CONCOMITANT LOSS OF THE SARCOGLYCAN PROTEINS IN EACH OF THE SARCOGLYCANOPATHY-ALPHA, SARCOGLYCANOPATHY-BETA, SARCOGLYCANOPATHY-GAMMA AND SARCOGLYCANOPATHY-DELTA, American journal of human genetics, 61(4), 1997, pp. 1940-1940
BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX (VOL 11, PG 266, 1995)
Authors: BONNEMAN CG MODI R NOGUCHI S MIZUNO Y YOSHIDA M GUSSONI E MCNALLEY EN DUGGAN DJ ANGELINI C HOFFMAN EP OZAWA E KUNKEL LM
Citation: Cg. Bonneman et al., BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX (VOL 11, PG 266, 1995), Nature genetics, 12(1), 1996, pp. 110-110
AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY AND MUTATIONS OF THE SARCOGLYCAN COMPLEX
Authors: DUGGAN DJ HOFFMAN EP
Citation: Dj. Duggan et Ep. Hoffman, AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY AND MUTATIONS OF THE SARCOGLYCAN COMPLEX, Neuromuscular disorders, 6(6), 1996, pp. 475-482
ALPHA-SARCOGLYCAN (ADHALIN) DEFICIENCY - COMPLETE DEFICIENCY PATIENTSARE 5-PERCENT OF CHILDHOOD-ONSET DYSTROPHIN-NORMAL MUSCULAR-DYSTROPHYAND MOST PARTIAL DEFICIENCY PATIENTS DO NOT HAVE GENE-MUTATIONS
Authors: DUGGAN DJ FANIN M PEGORARO E ANGELINI C HOFFMAN EP
Citation: Dj. Duggan et al., ALPHA-SARCOGLYCAN (ADHALIN) DEFICIENCY - COMPLETE DEFICIENCY PATIENTSARE 5-PERCENT OF CHILDHOOD-ONSET DYSTROPHIN-NORMAL MUSCULAR-DYSTROPHYAND MOST PARTIAL DEFICIENCY PATIENTS DO NOT HAVE GENE-MUTATIONS, Journal of the neurological sciences, 140(1-2), 1996, pp. 30-39
BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX
Authors: BONNEMANN CG MODI R NOGUCHI S MIZUNO Y YOSHIDA M GUSSONI E MCNALLY EM DUGGAN DJ ANGELINI C HOFFMAN EP OZAWA E KUNKEL LM
Citation: Cg. Bonnemann et al., BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX, Nature genetics, 11(3), 1995, pp. 266-273
RAPID CONSTRUCTION OF INTEGRATED MAPS USING INNER-PRODUCT MAPPING - YAC COVERAGE OF HUMAN-CHROMOSOME-11
Authors: PERLIN MW DUGGAN DJ DAVIS K FARR JE FINDLER RB HIGGINS MJ NOWAK NJ EVANS GA QIN SZ ZHANG JL SHOWS TB JAMES MR RICHARD CW
Citation: Mw. Perlin et al., RAPID CONSTRUCTION OF INTEGRATED MAPS USING INNER-PRODUCT MAPPING - YAC COVERAGE OF HUMAN-CHROMOSOME-11, Genomics, 28(2), 1995, pp. 315-327
THE 43 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN A3B IS MUTATED IN AN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Authors: BONNEMANN CG MODI R NOGUCHI S YOSHIDA M GUSSONI E MCNALLY EM DUGGAN DJ ANGELINI C HOFFMAN EP OZAWA E KUNKEL LM
Citation: Cg. Bonnemann et al., THE 43 KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN A3B IS MUTATED IN AN AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 102-102
MOLECULAR AND CLINICAL CHARACTERIZATION OF ADHALIN-DEFICIENT MUSCULAR-DYSTROPHY
Authors: DUGGAN DJ GOROSPE JRM FANIN M PEGORARO E ANGELINI C HOFFMAN EP
Citation: Dj. Duggan et al., MOLECULAR AND CLINICAL CHARACTERIZATION OF ADHALIN-DEFICIENT MUSCULAR-DYSTROPHY, American journal of human genetics, 57(4), 1995, pp. 1215-1215
RAPID CONSTRUCTION OF INTEGRATED MAPS USING INNER-PRODUCT MAPPING - YAC COVERAGE OF HUMAN-CHROMOSOME-11
Authors: PERLIN MW DUGGAN DJ DAVIS K FARR JE FINDLER RB HIGGINS MJ NOWAK NJ EVANS GA QIN S ZHANG J SHOWS TB JAMES MR RICHARD CW
Citation: Mw. Perlin et al., RAPID CONSTRUCTION OF INTEGRATED MAPS USING INNER-PRODUCT MAPPING - YAC COVERAGE OF HUMAN-CHROMOSOME-11, American journal of human genetics, 57(4), 1995, pp. 1553-1553
GENETICS OF CYP1A1 - COAMPLIFICATION OF SPECIFIC ALLELES BY POLYMERASE CHAIN-REACTION AND ASSOCIATION WITH BREAST-CANCER
Authors: REBBECK TR ROSVOLD EA DUGGAN DJ ZHANG J BUETOW KH
Citation: Tr. Rebbeck et al., GENETICS OF CYP1A1 - COAMPLIFICATION OF SPECIFIC ALLELES BY POLYMERASE CHAIN-REACTION AND ASSOCIATION WITH BREAST-CANCER, Cancer epidemiology, biomarkers & prevention, 3(6), 1994, pp. 511-514
Risultati: 1-16 |