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Results: 1-25 | 26-34
Results: 1-25/34
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
CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: ROSENBERG C NAVAJAS L VAGENAS DF BAKKER E VAINZOF M PASSOSBUENO MR TAKATA RI VANOMMEN GJB ZATZ M DENDUNNEN JT
Citation: C. Rosenberg et al., CLINICAL-DIAGNOSIS OF HETEROZYGOUS DYSTROPHIN GENE DELETIONS BY FLUORESCENCE IN-SITU HYBRIDIZATION, Neuromuscular disorders, 8(7), 1998, pp. 447-452
PATERNAL INHERITANCE OR DIFFERENT MUTATIONS IN MATERNALLY RELATED PATIENTS OCCUR IN ABOUT 3-PERCENT OF DUCHENNE FAMILIAL CASES
Authors: ZATZ M SUMITA D CAMPIOTTO S CANOVAS M CERQUEIRA A VAINZOF M PASSOSBUENO MR
Citation: M. Zatz et al., PATERNAL INHERITANCE OR DIFFERENT MUTATIONS IN MATERNALLY RELATED PATIENTS OCCUR IN ABOUT 3-PERCENT OF DUCHENNE FAMILIAL CASES, American journal of medical genetics, 78(4), 1998, pp. 361-365
THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1) GENE AFFECTS MALESMORE SEVERELY AND MORE FREQUENTLY THAN FEMALES
Authors: ZATZ M MARIE SK CERQUEIRA A VAINZOF M PAVANELLO RCM PASSOSBUENO MR
Citation: M. Zatz et al., THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY (FSHD1) GENE AFFECTS MALESMORE SEVERELY AND MORE FREQUENTLY THAN FEMALES, American journal of medical genetics, 77(2), 1998, pp. 155-161
A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES
Authors: MOREIRA ES VAINZOF M MARIE SK NIGRO V ZATZ M PASSOSBUENO MR
Citation: Es. Moreira et al., A FIRST MISSENSE MUTATION IN THE DELTA-SARCOGLYCAN GENE ASSOCIATED WITH A SEVERE PHENOTYPE AND FREQUENCY OF LIMB-GIRDLE MUSCULAR-DYSTROPHY TYPE-2F (LGMD2F) IN BRAZILIAN SARCOGLYCANOPATHIES, Journal of Medical Genetics, 35(11), 1998, pp. 951-953
NOVEL POINT MUTATIONS IN THE DYSTROPHIN GENE
Authors: SITNIK R CAMPIOTTO S VAINZOF M PAVANELLO RC TAKATA RI ZATZ M PASSOSBUENO MR
Citation: R. Sitnik et al., NOVEL POINT MUTATIONS IN THE DYSTROPHIN GENE, Human mutation, 10(3), 1997, pp. 217-222
DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY
Authors: VAINZOF M COSTA CS MARIE SK MOREIRA ES REED U PASSOSBUENO MR BEGGS AH ZATZ M
Citation: M. Vainzof et al., DEFICIENCY OF ALPHA-ACTININ-3 (ACTN3) OCCURS IN DIFFERENT FORMS OF MUSCULAR-DYSTROPHY, Neuropediatrics, 28(4), 1997, pp. 223-228
ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A)
Authors: SPENCER MJ TIDBALL JG ANDERSON LVB BUSHBY KMD HARRIS JB PASSOSBUENO MR SOMER H VAINZOF M ZATZ M
Citation: Mj. Spencer et al., ABSENCE OF CALPAIN-3 IN A FORM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY (LGMD2A), Journal of the neurological sciences, 146(2), 1997, pp. 173-178
SEGREGATION DISTORTION OF THE CTG REPEATS AT THE MYOTONIC-DYSTROPHY (DM) LOCUS - NEW DATA FROM BRAZILIAN DM FAMILIES
Authors: ZATZ M CERQUEIRA A VAINZOF M PASSOSBUENO MR
Citation: M. Zatz et al., SEGREGATION DISTORTION OF THE CTG REPEATS AT THE MYOTONIC-DYSTROPHY (DM) LOCUS - NEW DATA FROM BRAZILIAN DM FAMILIES, Journal of Medical Genetics, 34(9), 1997, pp. 790-791
THE 7TH FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY ISMAPPED TO 17Q11-12
Authors: MOREIRA ES VAINZOF M MARIE SK SERTIE AL ZATZ M PASSOSBUENO MR
Citation: Es. Moreira et al., THE 7TH FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY ISMAPPED TO 17Q11-12, American journal of human genetics, 61(1), 1997, pp. 151-159
AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, LGMD2F, IS CAUSEDBY A MUTATION IN THE DELTA-SARCOGLYCAN GENE
Authors: NIGRO V MOREIRA ED PILUSO G VAINZOF M BELSITO A POLITANO L PUCA AA PASSOSBUENO MR ZATZ M
Citation: V. Nigro et al., AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, LGMD2F, IS CAUSEDBY A MUTATION IN THE DELTA-SARCOGLYCAN GENE, Nature genetics, 14(2), 1996, pp. 195-198
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
THE PHENOTYPE OF CHROMOSOME 2P-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: MAHJNEH I PASSOSBUENO MR ZATZ M VAINZOF M MARCONI G NASHEF L BASHIR R BUSHBY K
Citation: I. Mahjneh et al., THE PHENOTYPE OF CHROMOSOME 2P-LINKED LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 6(6), 1996, pp. 483-490
CONGENITAL MUSCULAR-DYSTROPHY WITH CEREBRAL WHITE-MATTER HYPODENSITY - CORRELATION OF CLINICAL-FEATURES AND MEROSIN DEFICIENCY
Authors: REED UC MARIE SK VAINZOF M SALUM PB LEVY JA ZATZ M DIAMENT A
Citation: Uc. Reed et al., CONGENITAL MUSCULAR-DYSTROPHY WITH CEREBRAL WHITE-MATTER HYPODENSITY - CORRELATION OF CLINICAL-FEATURES AND MEROSIN DEFICIENCY, Brain & development, 18(1), 1996, pp. 53-58
MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES
Authors: PASSOSBUENO MR MOREIRA ES MARIE SK BASHIR R VASQUEZ L LOVE DR VAINZOF M IUGHETTI P OLIVEIRA JR BAKKER E STRACHAN T BUSHBY K ZATZ M
Citation: Mr. Passosbueno et al., MAIN CLINICAL-FEATURES OF THE 3 MAPPED AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHIES AND ESTIMATED PROPORTION OF EACH FORM IN 13 BRAZILIAN FAMILIES, Journal of Medical Genetics, 33(2), 1996, pp. 97-102
CTG REPEAT LENGTH IN MUSCLE FROM PATIENTS AFFECTED WITH MYOTONIC-DYSTROPHY (DM)
Authors: ZATZ M PASSOSBUENO MR CERQUEIRA A VAINZOF M
Citation: M. Zatz et al., CTG REPEAT LENGTH IN MUSCLE FROM PATIENTS AFFECTED WITH MYOTONIC-DYSTROPHY (DM), Journal of Medical Genetics, 33(2), 1996, pp. 173-173
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
A COMMON MISSENSE MUTATION IN THE ADHALIN GENE IN 3 UNRELATED BRAZILIAN FAMILIES WITH A RELATIVELY MILD FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: BUENO MRP MOREIRA ES VAINZOF M CHAMBERLAIN J MARIE SK PEREIRA L AKIYAMA J ROBERDS SL CAMPBELL KP ZATZ M
Citation: Mrp. Bueno et al., A COMMON MISSENSE MUTATION IN THE ADHALIN GENE IN 3 UNRELATED BRAZILIAN FAMILIES WITH A RELATIVELY MILD FORM OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY, Human molecular genetics, 4(7), 1995, pp. 1163-1167
ANALYSIS OF THE CTG REPEAT IN SKELETAL-MUSCLE OF YOUNG AND ADULT MYOTONIC-DYSTROPHY PATIENTS - WHEN DOES THE EXPANSION OCCUR
Authors: ZATZ M PASSOSBUENO MR CERQUEIRA A MARIE SK VAINZOF M PAVANELLO RCM
Citation: M. Zatz et al., ANALYSIS OF THE CTG REPEAT IN SKELETAL-MUSCLE OF YOUNG AND ADULT MYOTONIC-DYSTROPHY PATIENTS - WHEN DOES THE EXPANSION OCCUR, Human molecular genetics, 4(3), 1995, pp. 401-406
CONFIRMATION OF THE 2P LOCUS FOR THE MILD AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY GENE (LGMD2B) IN 3 FAMILIES ALLOWS REFINEMENT OF THE CANDIDATE REGION
Authors: PASSOSBUENO MR BASHIR R MOREIRA ES VAINZOF M MARIE SK VASQUEZ L IUGHETTI P BAKKER E KEERS S STEPHENSON A STRACHAN T MAHNEH I WEISSENBACH J BUSHBY K ZATZ M
Citation: Mr. Passosbueno et al., CONFIRMATION OF THE 2P LOCUS FOR THE MILD AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY GENE (LGMD2B) IN 3 FAMILIES ALLOWS REFINEMENT OF THE CANDIDATE REGION, Genomics, 27(1), 1995, pp. 192-195
DEFICIENCY OF MEROSIN (LAMININ-M OR ALPHA-2) IN CONGENITAL MUSCULAR-DYSTROPHY ASSOCIATED WITH CEREBRAL WHITE-MATTER ALTERATIONS
Authors: VAINZOF M MARIE SKN REED UC SCHWARTZMAN JS PAVANELLO RCM PASSOSBUENO MR ZATZ M
Citation: M. Vainzof et al., DEFICIENCY OF MEROSIN (LAMININ-M OR ALPHA-2) IN CONGENITAL MUSCULAR-DYSTROPHY ASSOCIATED WITH CEREBRAL WHITE-MATTER ALTERATIONS, Neuropediatrics, 26(6), 1995, pp. 293-297
ABSENCE OF CORRELATION BETWEEN UTROPHIN LOCALIZATION AND QUANTITY ANDTHE CLINICAL SEVERITY IN DUCHENNE BECKER DYSTROPHIES/
Authors: VAINZOF M PASSOSBUENO MR MAN NT ZATZ M
Citation: M. Vainzof et al., ABSENCE OF CORRELATION BETWEEN UTROPHIN LOCALIZATION AND QUANTITY ANDTHE CLINICAL SEVERITY IN DUCHENNE BECKER DYSTROPHIES/, American journal of medical genetics, 58(4), 1995, pp. 305-309
IS DYSTROPHIN ALWAYS ALTERED IN BECKER MUSCULAR-DYSTROPHY PATIENTS
Authors: VAINZOF M PASSOSBUENO MR PAVANELLO RCM ZATZ M
Citation: M. Vainzof et al., IS DYSTROPHIN ALWAYS ALTERED IN BECKER MUSCULAR-DYSTROPHY PATIENTS, Journal of the neurological sciences, 131(1), 1995, pp. 99-104
MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES
Authors: PASSOSBUENO MR CERQUEIRA A VAINZOF M MARIE SK ZATZ M
Citation: Mr. Passosbueno et al., MYOTONIC-DYSTROPHY - GENETIC, CLINICAL, AND MOLECULAR ANALYSIS OF PATIENTS FROM 41 BRAZILIAN FAMILIES, Journal of Medical Genetics, 32(1), 1995, pp. 14-18
Risultati: 1-25 | 26-34