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Results: 1-18 |
Results: 18
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
LGMD 2E IN TUNISIA IS CAUSED BY A HOMOZYGOUS MISSENSE MUTATION IN BETA-SARCOGLYCAN EXON-3
Authors: BONNEMANN CG WONG J BENHAMIDA C BENHAMIDA M HENTATI F KUNKEL LM
Citation: Cg. Bonnemann et al., LGMD 2E IN TUNISIA IS CAUSED BY A HOMOZYGOUS MISSENSE MUTATION IN BETA-SARCOGLYCAN EXON-3, Neuromuscular disorders, 8(3-4), 1998, pp. 193-197
IMMUNOCYTOCHEMISTRY IN LIMB-GIRDLE DYSTROPHY WITH IDENTIFIED SARCOGLYCAN MUTATIONS
Authors: LIDOV HGW BONNEMANN CG KUNKEL LM
Citation: Hgw. Lidov et al., IMMUNOCYTOCHEMISTRY IN LIMB-GIRDLE DYSTROPHY WITH IDENTIFIED SARCOGLYCAN MUTATIONS, Journal of neuropathology and experimental neurology, 57(5), 1998, pp. 88-88
A MULTICOPY TRANSCRIPTION-REPAIR GENE, BTF2P44, MAPS TO THE SMA REGION AND DEMONSTRATES SMA ASSOCIATED DELETIONS
Authors: CARTER TA BONNEMANN CG WANG CH OBICI S PARANO E BONALDO MD ROSS BM PENCHASZADEH GK MACKENZIE A SOARES MB KUNKEL LM GILLIAM TC
Citation: Ta. Carter et al., A MULTICOPY TRANSCRIPTION-REPAIR GENE, BTF2P44, MAPS TO THE SMA REGION AND DEMONSTRATES SMA ASSOCIATED DELETIONS, Human molecular genetics, 6(2), 1997, pp. 229-236
STRENGTH IMPROVEMENT ON PREDNISONE IN A PATIENT WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C (PRIMARY GAMMA-SARCOGLYCANOPATHY)
Authors: BONNEMANN CG DARRAS BT LIDOV HGW FEENER CA SHAPIRO FD KUNKEL LM
Citation: Cg. Bonnemann et al., STRENGTH IMPROVEMENT ON PREDNISONE IN A PATIENT WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY 2C (PRIMARY GAMMA-SARCOGLYCANOPATHY), Annals of neurology, 42(3), 1997, pp. 116-116
INTERACTION OF ARIA, A NEUREGULIN, WITH THE DYSTROGLYCAN SARCOGLYCAN COMPLEX IN SKELETAL-MUSCLE/
Authors: KHURANA TS BONNEMANN CG MCNALLY EM KUNKEL LM FISCHBACH GD
Citation: Ts. Khurana et al., INTERACTION OF ARIA, A NEUREGULIN, WITH THE DYSTROGLYCAN SARCOGLYCAN COMPLEX IN SKELETAL-MUSCLE/, Molecular biology of the cell, 7, 1996, pp. 1826-1826
GENOMIC SCREENING FOR BETA-SARCOGLYCAN GENE-MUTATIONS - MISSENSE MUTATIONS MAY CAUSE SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2E (LGMD 2E)
Authors: BONNEMANN CG PASSOSBUENO MR MCNALLY EM VAINZOF M MOREIRA ED MARIE SK PAVANELLO RCM NOGUCHI S OZAWA E ZATZ M KUNKEL LM
Citation: Cg. Bonnemann et al., GENOMIC SCREENING FOR BETA-SARCOGLYCAN GENE-MUTATIONS - MISSENSE MUTATIONS MAY CAUSE SEVERE LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE 2E (LGMD 2E), Human molecular genetics, 5(12), 1996, pp. 1953-1961
THE SARCOGLYCAN COMPLEX IN THE 6 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES
Authors: VAINZOF M PASSOSBUENO MR CANOVAS M MOREIRA ES PAVANELLO RCM MARIE SK ANDERSON LVB BONNEMANN CG MCNALLY EM NIGRO V KUNKEL LM ZATZ M
Citation: M. Vainzof et al., THE SARCOGLYCAN COMPLEX IN THE 6 AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES, Human molecular genetics, 5(12), 1996, pp. 1963-1969
MUTATIONS THAT DISRUPT THE CARBOXYL-TERMINUS OF GAMMA-SARCOGLYCAN CAUSE MUSCULAR-DYSTROPHY
Authors: MCNALLY EM DUGGAN D GOROSPE JR BONNEMANN CG FANIN M PEGORARO E LIDOV HGW NOGUCHI S OZAWA E FINKEL RS CRUSE RP ANGELINI C KUNKEL LM HOFFMAN EP
Citation: Em. Mcnally et al., MUTATIONS THAT DISRUPT THE CARBOXYL-TERMINUS OF GAMMA-SARCOGLYCAN CAUSE MUSCULAR-DYSTROPHY, Human molecular genetics, 5(11), 1996, pp. 1841-1847
VERTEBRAL ARTERY DISSECTION - ISSUES IN DIAGNOSIS AND MANAGEMENT
Authors: KHURANA DS BONNEMANN CG DOOLING EC OUELLETTE EM BUONANNO F
Citation: Ds. Khurana et al., VERTEBRAL ARTERY DISSECTION - ISSUES IN DIAGNOSIS AND MANAGEMENT, Pediatric neurology, 14(3), 1996, pp. 255-258
BILATERAL PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS - 2 SIBLINGS REPRESENTING A PROBABLY NEW AUTOSOMAL RECESSIVE ENTITY
Authors: BONNEMANN CG MEINECKE P
Citation: Cg. Bonnemann et P. Meinecke, BILATERAL PORENCEPHALY, CEREBELLAR HYPOPLASIA, AND INTERNAL MALFORMATIONS - 2 SIBLINGS REPRESENTING A PROBABLY NEW AUTOSOMAL RECESSIVE ENTITY, American journal of medical genetics, 63(3), 1996, pp. 428-433
DEFICIENCY OF ADHALIN IN A PATIENT WITH MUSCULAR-DYSTROPHY AND CARDIOMYOPATHY
Authors: MCNALLY EM BONNEMANN CG KUNKEL LM BHATTACHARYA SK
Citation: Em. Mcnally et al., DEFICIENCY OF ADHALIN IN A PATIENT WITH MUSCULAR-DYSTROPHY AND CARDIOMYOPATHY, The New England journal of medicine, 334(24), 1996, pp. 1610-1611
MOLECULAR AND CLINICAL-FEATURES OF BETA-SARCOGLYCAN DEFICIENCY
Authors: HOFFMAN EP DUGGAN D GOROSPE JRM PEGORARO E BONNEMANN CG KUNKEL LM NOGUCHI S OZAWA E
Citation: Ep. Hoffman et al., MOLECULAR AND CLINICAL-FEATURES OF BETA-SARCOGLYCAN DEFICIENCY, Neurology, 46(2), 1996, pp. 12003-12003
MILD AND SEVERE MUSCULAR-DYSTROPHY CAUSED BY A SINGLE GAMMA-SARCOGLYCAN MUTATION
Authors: PASSOSBUENO MR BONNEMANN CG VAINZOF M MOREIRA ED LIDOV HGW BENOTHMANE K DENTON PH VANCE JM ZATZ M KUNKEL LM
Citation: Mr. Passosbueno et al., MILD AND SEVERE MUSCULAR-DYSTROPHY CAUSED BY A SINGLE GAMMA-SARCOGLYCAN MUTATION, American journal of human genetics, 59(5), 1996, pp. 1040-1047
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
MUTATIONS IN THE DYSTROPHIN-ASSOCIATED PROTEIN GAMMA-SARCOGLYCAN IN CHROMOSOME-13 MUSCULAR-DYSTROPHY
Authors: NOGUCHI S MCNALLY EM BENOTHMANE K HAGIWARA Y MIZUNO Y YOSHIDA M YAMAMOTO H BONNEMANN CG GUSSONI E DENTON PH KYRIAKIDES T MIDDLETON L HENTATI F BENHAMIDA M NONAKA I VANCE JM KUNKEL LM OZAWA E
Citation: S. Noguchi et al., MUTATIONS IN THE DYSTROPHIN-ASSOCIATED PROTEIN GAMMA-SARCOGLYCAN IN CHROMOSOME-13 MUSCULAR-DYSTROPHY, Science, 270(5237), 1995, pp. 819-822
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
LEIGH-DISEASE DUE TO COMPLEX-I DEFICIENCY PRESENTING AS LEUKODYSTROPHY
Authors: BONNEMANN CG LERMANSAGIE T KOSOFSKY BE ROBINSON BH SOTREL A DOUGHERTY FE SIMS KB
Citation: Cg. Bonnemann et al., LEIGH-DISEASE DUE TO COMPLEX-I DEFICIENCY PRESENTING AS LEUKODYSTROPHY, Annals of neurology, 36(3), 1994, pp. 543-543
Risultati: 1-18 |