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Results: 1-25 | 26-47
Results: 1-25/47
STEROIDS IN MUSCULAR-DYSTROPHY - WHERE DO WE STAND
Authors: DUBROVSKY AL ANGELINI C BONIFATI DM PEGORARO E MESA L
Citation: Al. Dubrovsky et al., STEROIDS IN MUSCULAR-DYSTROPHY - WHERE DO WE STAND, Neuromuscular disorders, 8(6), 1998, pp. 380-384
WALKER-WARBURG-SYNDROME - NEUROLOGIC FEATURES AND MUSCLE MEMBRANE-STRUCTURE
Authors: KANOFF RJ CURLESS RG PETITO C FALCONE S SIATKOWSKI RM PEGORARO E
Citation: Rj. Kanoff et al., WALKER-WARBURG-SYNDROME - NEUROLOGIC FEATURES AND MUSCLE MEMBRANE-STRUCTURE, Pediatric neurology, 18(1), 1998, pp. 76-80
PILOT-STUDY OF MYOBLAST TRANSFER IN THE TREATMENT OF BECKER MUSCULAR-DYSTROPHY
Authors: NEUMEYER AM CROS D MCKENNAYASEK D ZAWADZKA A HOFFMAN EP PEGORARO E HUNTER RG MUNSAT TL BROWN RH
Citation: Am. Neumeyer et al., PILOT-STUDY OF MYOBLAST TRANSFER IN THE TREATMENT OF BECKER MUSCULAR-DYSTROPHY, Neurology, 51(2), 1998, pp. 589-592
LAMININ ALPHA-2 MUSCULAR-DYSTROPHY - GENOTYPE PHENOTYPE STUDIES OF 22PATIENTS/
Authors: PEGORARO E MARKS H GARCIA CA CRAWFORD T MANCIAS P CONNOLLY AM FANIN M MARTINELLO F TREVISAN CP ANGELINI C STELLA A SCAVINA M MUNK RL SERVIDEI S BONNEMANN CC BERTORINI T ACSADI G THOMPSON CE GAGNON D HOGANSON G CARVER V ZIMMERMAN RA HOFFMAN EP
Citation: E. Pegoraro et al., LAMININ ALPHA-2 MUSCULAR-DYSTROPHY - GENOTYPE PHENOTYPE STUDIES OF 22PATIENTS/, Neurology, 51(1), 1998, pp. 101-110
IDENTIFICATION OF A NOVEL LAMININ ALPHA-2 ISOFORM EXPRESSED IN MUSCLE, AND IDENTIFICATION OF A SEVERE CONGENITAL MUSCULAR-DYSTROPHY (CMD) PATIENT WHO UNIQUALLY ACCUMULATES THIS ISOFORM
Authors: PEGORARO E FANIN M TREVISAN CP WATKINS SC ANGELINI C HOFFMAN EP
Citation: E. Pegoraro et al., IDENTIFICATION OF A NOVEL LAMININ ALPHA-2 ISOFORM EXPRESSED IN MUSCLE, AND IDENTIFICATION OF A SEVERE CONGENITAL MUSCULAR-DYSTROPHY (CMD) PATIENT WHO UNIQUALLY ACCUMULATES THIS ISOFORM, Neurology, 50(4), 1998, pp. 4121-4121
FAMILIAL SKEWED X INACTIVATION AND X-LINKED MUTATIONS - UNBALANCED X INACTIVATION IS A POWERFUL MEANS TO ASCERTAIN X-LINKED GENES THAT AFFECT CELL-PROLIFERATION - REPLY
Authors: HOFFMAN E PEGORARO E LANASA M
Citation: E. Hoffman et al., FAMILIAL SKEWED X INACTIVATION AND X-LINKED MUTATIONS - UNBALANCED X INACTIVATION IS A POWERFUL MEANS TO ASCERTAIN X-LINKED GENES THAT AFFECT CELL-PROLIFERATION - REPLY, American journal of human genetics, 62(6), 1998, pp. 1557-1558
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
FAMILIAL PRION DISEASE WITH A NOVEL 144-BP INSERTION IN THE PRION PROTEIN GENE IN A BASQUE FAMILY
Authors: CAPELLARI S VITAL C PARCHI P PETERSEN RB FERRER X JARNIER D PEGORARO E GAMBETTI P JULIEN J
Citation: S. Capellari et al., FAMILIAL PRION DISEASE WITH A NOVEL 144-BP INSERTION IN THE PRION PROTEIN GENE IN A BASQUE FAMILY, Neurology, 49(1), 1997, pp. 133-141
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
THE GENETIC AND PHENOTYPIC HETEROGENEITY OF MEROSIN-NEGATIVE CONGENITAL MUSCULAR-DYSTROPHY
Authors: PEGORARO E MANCIAS P GARCIAS C ANGELINI C FANIN M TREVISAN CP MARKS H CRAWFORD T CONNOLLY AM CARVER V HOFFMAN EP
Citation: E. Pegoraro et al., THE GENETIC AND PHENOTYPIC HETEROGENEITY OF MEROSIN-NEGATIVE CONGENITAL MUSCULAR-DYSTROPHY, Neurology, 48(3), 1997, pp. 21005-21005
RNA-METABOLISM IN MYOTONIC-DYSTROPHY - PATIENT MUSCLE SHOWS DECREASEDINSULIN-RECEPTOR RNA AND PROTEIN CONSISTENT WITH ABNORMAL INSULIN-RESISTANCE
Authors: MORRONE A PEGORARO E ANGELINI C ZAMMARCHI E MARCONI G HOFFMAN EP
Citation: A. Morrone et al., RNA-METABOLISM IN MYOTONIC-DYSTROPHY - PATIENT MUSCLE SHOWS DECREASEDINSULIN-RECEPTOR RNA AND PROTEIN CONSISTENT WITH ABNORMAL INSULIN-RESISTANCE, The Journal of clinical investigation, 99(7), 1997, pp. 1691-1698
ON GROUPS WITH NILPOTENT BY CERNIKOV PROPER SUBGROUPS
Authors: NAPOLITANI F PEGORARO E
Citation: F. Napolitani et E. Pegoraro, ON GROUPS WITH NILPOTENT BY CERNIKOV PROPER SUBGROUPS, Archiv der Mathematik, 69(2), 1997, pp. 89-94
FAMILIAL SKEWED-X INACTIVATION - A MOLECULAR TRAIT ASSOCIATED WITH HIGH SPONTANEOUS-ABORTION RATE MAPS TO XQ28
Authors: PEGORARO E WHITAKER J MOWERYRUSHTON P SURTI U LANASA M HOFFMAN EP
Citation: E. Pegoraro et al., FAMILIAL SKEWED-X INACTIVATION - A MOLECULAR TRAIT ASSOCIATED WITH HIGH SPONTANEOUS-ABORTION RATE MAPS TO XQ28, American journal of human genetics, 61(1), 1997, pp. 160-170
HEREDITARY PROTEIN-C DEFICIENCY ASSOCIATED WITH RIBOFLAVIN-RESPONSIVELIPID STORAGE MYOPATHY
Authors: VERGANI L ANGELINI C PEGORARO E CADALDINI M SIMIONI P GIROLAMI A TURNBULL DM
Citation: L. Vergani et al., HEREDITARY PROTEIN-C DEFICIENCY ASSOCIATED WITH RIBOFLAVIN-RESPONSIVELIPID STORAGE MYOPATHY, European journal of neurology, 3(1), 1996, pp. 61-65
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
CONGENITAL MUSCULAR-DYSTROPHY WITH PRIMARY LAMININ ALPHA-2 (MEROSIN) DEFICIENCY PRESENTING AS INFLAMMATORY MYOPATHY
Authors: PEGORARO E MANCIAS P SWERDLOW SH RAIKOW RB GARCIA C MARKS H CRAWFORD T CARVER V DICIANNO B HOFFMAN EP
Citation: E. Pegoraro et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PRIMARY LAMININ ALPHA-2 (MEROSIN) DEFICIENCY PRESENTING AS INFLAMMATORY MYOPATHY, Annals of neurology, 40(5), 1996, pp. 782-791
MOTOR-NEURON DISEASE IN THE PADUA DISTRICT OF ITALY - AN EPIDEMIOLOGIC-STUDY
Authors: BRIANI C MARCON M DAM M BEGHI E PEGORARO E ANGELINI C
Citation: C. Briani et al., MOTOR-NEURON DISEASE IN THE PADUA DISTRICT OF ITALY - AN EPIDEMIOLOGIC-STUDY, Neuroepidemiology, 15(4), 1996, pp. 173-179
GENETIC-COUNSELING OF ISOLATED CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY
Authors: HOFFMAN EP PEGORARO E SCACHERI P BURNS RG TABER JW WEISS L SPIRO A BLATTNER P
Citation: Ep. Hoffman et al., GENETIC-COUNSELING OF ISOLATED CARRIERS OF DUCHENNE MUSCULAR-DYSTROPHY, American journal of medical genetics, 63(4), 1996, pp. 573-580
DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE
Authors: FANIN M FREDA MP VITIELLO L DANIELI GA PEGORARO E ANGELINI C
Citation: M. Fanin et al., DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE, Muscle & nerve, 19(9), 1996, pp. 1154-1160
MYOTONIA AND THE MUSCLE CHLORIDE CHANNEL - DOMINANT MUTATIONS SHOW VARIABLE PENETRANCE AND FOUNDER EFFECT
Authors: KOTY PP PEGORARO E HOBSON G MARKS HG TUREL A FLAGLER D CADALDINI M ANGELINI C HOFFMAN EP
Citation: Pp. Koty et al., MYOTONIA AND THE MUSCLE CHLORIDE CHANNEL - DOMINANT MUTATIONS SHOW VARIABLE PENETRANCE AND FOUNDER EFFECT, Neurology, 47(4), 1996, pp. 963-968
PATTERN OF X-CHROMOSOME INACTIVATION AS A KEY DETERMINANT OF THE CLINICOPATHOLOGICAL PHENOTYPE OF DUCHENNE MUSCULAR-DYSTROPHY CARRIERS - REPLY
Authors: HOFFMAN EP PEGORARO E
Citation: Ep. Hoffman et E. Pegoraro, PATTERN OF X-CHROMOSOME INACTIVATION AS A KEY DETERMINANT OF THE CLINICOPATHOLOGICAL PHENOTYPE OF DUCHENNE MUSCULAR-DYSTROPHY CARRIERS - REPLY, Neurology, 46(4), 1996, pp. 1190-1191
CONGENITAL MUSCULAR-DYSTROPHY WITH PRIMARY LAMININ ALPHA(2) DEFICIENCY PRESENTING AS INFLAMMATORY MYOPATHY
Authors: PEGORARO E MANCIAS P SWERDLOW SH RAIKOW RB ANGELINI C TREVISAN CP GARCIA C MARKS H CRAWFORD T CARVER V HOFFMAN EP
Citation: E. Pegoraro et al., CONGENITAL MUSCULAR-DYSTROPHY WITH PRIMARY LAMININ ALPHA(2) DEFICIENCY PRESENTING AS INFLAMMATORY MYOPATHY, Neurology, 46(2), 1996, pp. 8005-8005
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
AN EARLY-ONSET MUSCULAR-DYSTROPHY DUE TO NONSENSE MUTATIONS IN DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (DAG) A3B WITH LOSS OF SARCOGLYCAN COMPLEX
Authors: ANGELINI C FANIN M PEGORARO E MODI R HOFFMAN EP BORREMANN CG KUNKEL LM
Citation: C. Angelini et al., AN EARLY-ONSET MUSCULAR-DYSTROPHY DUE TO NONSENSE MUTATIONS IN DYSTROPHIN-ASSOCIATED GLYCOPROTEIN (DAG) A3B WITH LOSS OF SARCOGLYCAN COMPLEX, Neurology, 46(2), 1996, pp. 68004-68004
PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES
Authors: ANGELINI C FANIN M FREDA MP MARTINELLO F MIORIN M MELACINI P SICILIANO G PEGORARO E ROSA M DANIELI GA
Citation: C. Angelini et al., PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES, Journal of the neurological sciences, 142(1-2), 1996, pp. 70-78
Risultati: 1-25 | 26-47