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Results: 1-8 |
Results: 8
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
EXPERIENCE WITH MOLECULAR AND CYTOGENETIC DIAGNOSIS OF FRAGILE-X-SYNDROME IN BRAZILIAN FAMILIES
Authors: MINGRONINETTO RC PAVANELLO RCM OTTO PA VIANNAMORGANTE AM
Citation: Rc. Mingroninetto et al., EXPERIENCE WITH MOLECULAR AND CYTOGENETIC DIAGNOSIS OF FRAGILE-X-SYNDROME IN BRAZILIAN FAMILIES, BRAZ J GENE, 20(4), 1997, pp. 731-739
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
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
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
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
ASSESSMENT OF THE 50-KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN BRAZILIAN PATIENTS WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY
Authors: ZATZ M MATSUMURA K VAINZOF M PASSOSBUENO MR PAVANELLO RCM MARIE SK CAMPBELL KP
Citation: M. Zatz et al., ASSESSMENT OF THE 50-KDA DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN BRAZILIAN PATIENTS WITH SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY, Journal of the neurological sciences, 123(1-2), 1994, pp. 122-128
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