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Results: 26-47/47
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
Authors:
EVANS MI
KRIVCHENIA EL
JOHNSON MP
QUINTERO RA
KING M
PEGORARO E
HOFFMAN EP
Citation: Mi. Evans et al., IN-UTERO FETAL MUSCLE BIOPSY ALTERS DIAGNOSIS AND CARRIER RISKS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY, Fetal diagnosis and therapy, 10(2), 1995, pp. 71-75
Authors:
WANG JZ
PEGORARO E
MENEGAZZO E
GENNARELLI M
HOOP RC
ANGELINI C
HOFFMAN EP
Citation: Jz. Wang et al., MYOTONIC-DYSTROPHY - EVIDENCE FOR A POSSIBLE DOMINANT-NEGATIVE RNA MUTATION, Human molecular genetics, 4(4), 1995, pp. 599-606
Authors:
FIDZIANSKA A
MORRONE A
PEGORARO E
RYNIEWICZ B
ILNICKA A
ZAMMARCHI E
HOFFMAN EP
Citation: A. Fidzianska et al., AN X-ATOSOME TRANSLOCATION STABILIZES TRUNCATED DYSTROPHIN - IMPLICATIONS FOR LACK OF TRUNCATED DYSTROPHINS IN DUCHENNE MUSCULAR-DYSTROPHY, Neuropediatrics, 26(3), 1995, pp. 163-167
Authors:
DUBROVSKY AL
TARATUTO AL
SEVLEVER G
SCHULTZ M
PEGORARO E
HOOP RC
HOFFMAN EP
Citation: Al. Dubrovsky et al., DUCHENNE MUSCULAR-DYSTROPHY AND MYOTONIC-DYSTROPHY IN THE SAME PATIENT, American journal of medical genetics, 55(3), 1995, pp. 342-348
Authors:
ANGELINI C
PEGORARO E
CADALDINI M
Citation: C. Angelini et al., DAILY VERSUS ALTERNATE-DAY DEFLAZACORT (DFZ) IN DUCHENNE MUSCULAR-DYSTROPHY, Neurology, 45(4), 1995, pp. 182-182
Authors:
PEGORARO E
SCHIMKE RN
GARCIA C
STERN H
CADALDINI M
ANGELINI C
BARBOSA E
CARROLL J
MARKS WA
NEVILLE HE
MARKS H
APPLETON S
TORIELLO H
WESSEL HB
DONNELLY J
BERNES SM
TABER JW
WEISS L
HOFFMAN EP
Citation: E. Pegoraro et al., GENETIC AND BIOCHEMICAL NORMALIZATION IN FEMALE CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY - EVIDENCE FOR FAILURE OF DYSTROPHIN PRODUCTION IN DYSTROPHIN-COMPETENT MYONUCLEI, Neurology, 45(4), 1995, pp. 677-690
Authors:
HOFFMAN EP
PEGORARO E
Citation: Ep. Hoffman et E. Pegoraro, SKEWED X-INACTIVATION CAN BE INHERITED AS A MENDELIAN TRAIT IN HUMANS, American journal of human genetics, 57(4), 1995, pp. 249-249
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
Authors:
PEGORARO E
MANCIAS P
GARCIA C
MARKS H
CARVER V
HOFFMAN EP
Citation: E. Pegoraro et al., MOLECULAR PATHOGENESIS OF CONGENITAL MUSCULAR-DYSTROPHY - GENE, PROTEIN, AND HISTOPATHOLOGICAL STUDIES OF MEROSIN DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1292-1292
Authors:
WANG JZ
MORRONE A
PEGORARO E
ANGELINI C
ZAMMARCHI E
MARCONI G
HOFFMAN EP
Citation: Jz. Wang et al., MYOTONIC-DYSTROPHY - IS THIS AN RNA EXPANSION DISORDER, American journal of human genetics, 57(4), 1995, pp. 1469-1469
Authors:
ANGELINI C
FANIN M
PEGORARO E
FREDA MP
CADALDINI M
MARTINELLO F
Citation: C. Angelini et al., CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES, Neuromuscular disorders, 4(4), 1994, pp. 349-358
Authors:
ANGELINI C
PEGORARO E
TURELLA E
INTINO MT
PINI A
COSTA C
Citation: C. Angelini et al., DEFLAZACORT IN DUCHENNE DYSTROPHY - STUDY OF LONG-TERM EFFECT (VOL 17, PG 386, 1994), Muscle & nerve, 17(7), 1994, pp. 833-833
Authors:
ANGELINI C
PEGORARO E
TURELLA E
INTINO MT
PINI A
COSTA C
Citation: C. Angelini et al., DEFLAZACORT IN DUCHENNE DYSTROPHY - STUDY OF LONG-TERM EFFECT, Muscle & nerve, 17(4), 1994, pp. 386-391
Authors:
PEGORARO E
SCHIMKE RN
ARAHATA K
HIYASHI Y
STERN H
MARKS H
GLASBERG MR
CARROLL JE
TABER JW
WESSEL HB
BAUSERMAN SC
TORIELLO HV
APPLETON S
SCHWARTZ LS
GARCIA CA
HOFFMAN EP
Citation: E. Pegoraro et al., GENETIC NORMALIZATION IN DUCHENNE CARRIERS, Neurology, 44(4), 1994, pp. 10000187-10000188
Authors:
ANGELINI C
PEGORARO E
FANIN M
CADALDINI M
Citation: C. Angelini et al., INTEGRATED MULTIDISCIPLINARY STUDY IN 104 BECKER MUSCULAR-DYSTROPHY PATIENTS, Neurology, 44(4), 1994, pp. 10000230-10000230
Authors:
FANIN M
PEGORARO E
ANGELINI C
Citation: M. Fanin et al., ABSENCE OF DYSTROPHIN AND SPECTRIN IN REGENERATING MUSCLE-FIBERS FROMBECKER DYSTROPHY PATIENTS, Journal of the neurological sciences, 123(1-2), 1994, pp. 88-94
Authors:
PEGORARO E
SCHIMKE RN
ARAHATA K
HAYASHI Y
STERN H
MARKS H
GLASBERG MR
CARROLL JE
TABER JW
WESSEL HB
BAUSERMAN SC
MARKS WA
TORIELLO HV
HIGGINS JV
APPLETON S
SCHWARTZ L
GARCIA CA
HOFFMAN EP
Citation: E. Pegoraro et al., DETECTION OF NEW PATERNAL DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASESOF DYSTROPHINOPATHY IN FEMALES, American journal of human genetics, 54(6), 1994, pp. 989-1003
Authors:
MELACINI P
FANIN M
DANIELI GA
FASOLI G
VILLANOVA C
ANGELINI C
VITIELLO L
MIORELLI M
BUJA GF
MOSTACCIUOLO ML
PEGORARO E
VOLTA SD
Citation: P. Melacini et al., CARDIAC INVOLVEMENT IN BECKER MUSCULAR-DYSTROPHY, Journal of the American College of Cardiology, 22(7), 1993, pp. 1927-1934
Authors:
MOSTACCIUOLO ML
MIORIN M
PEGORARO E
FANIN M
SCHIAVON F
VITIELLO L
SAAD FA
ANGELINI C
DANIELI GA
Citation: Ml. Mostacciuolo et al., REAPPRAISAL OF THE INCIDENCE RATE OF DUCHENNE AND BECKER MUSCULAR-DYSTROPHIES ON THE BASIS OF MOLECULAR DIAGNOSIS, Neuroepidemiology, 12(6), 1993, pp. 326-330
Authors:
PEGORARO E
HAYASHI YK
SCHIMKE RN
MARKS WA
TABER JW
GLASBERG MR
HOOP RC
ARAHATA K
HOFFMAN EP
Citation: E. Pegoraro et al., ORIGIN OF DYSTROPHIN GENE-MUTATIONS IN ISOLATED CASES OF DYSTROPHINOPATHY IN FEMALES, American journal of human genetics, 53(3), 1993, pp. 649-649
Authors:
EVANS MI
KRIVCHENIA EL
JOHNSON MP
QUINTERO R
KING M
PEGORARO E
HOFFMAN EP
Citation: Mi. Evans et al., IN-UTERO FETAL MUSCLE BIOPSY (IUFMB) ALTERS DIAGNOSIS AND CARRIER RISKS IN DUCHENNE AND BECKER MUSCULAR-DYSTROPHY, American journal of human genetics, 53(3), 1993, pp. 1405-1405