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Results: 1-25 | 26-30
Results: 1-25/30
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Authors: ANGELINI C FANIN M MENEGAZZO E FREDA MP DUGGAN DJ HOFFMAN EP
Citation: C. Angelini et al., HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT, Muscle & nerve, 21(6), 1998, pp. 769-775
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
CHANGES IN SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS UNDERGOING EXERCISE DECONDITIONING - EFFECT OF PROPIONYL-L-CARNITINE
Authors: BREVETTI G FANIN M DEAMICIS V CARROZZO R DILELLO F MARTONE VD ANGELINI C
Citation: G. Brevetti et al., CHANGES IN SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS UNDERGOING EXERCISE DECONDITIONING - EFFECT OF PROPIONYL-L-CARNITINE, Muscle & nerve, 20(9), 1997, pp. 1115-1120
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
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
GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS
Authors: FANIN M DUGGAN DJ MOSTACCIUOLO ML MARTINELLO F FREDA MP SORARU G TREVISAN CP HOFFMAN EP
Citation: M. Fanin et al., GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS, Journal of Medical Genetics, 34(12), 1997, pp. 973-977
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
CARDIAC AND RESPIRATORY INVOLVEMENT IN ADVANCED-STAGE DUCHENNE MUSCULAR-DYSTROPHY
Authors: MELACINI P VIANELLO A VILLANOVA C FANIN M MIORIN M ANGELINI C DALLAVOLTA S
Citation: P. Melacini et al., CARDIAC AND RESPIRATORY INVOLVEMENT IN ADVANCED-STAGE DUCHENNE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 6(5), 1996, pp. 367-376
BRAIN ALTERATIONS IN THE CLASSICAL FORM OF CONGENITAL MUSCULAR-DYSTROPHY - CLINICAL AND NEUROIMAGING FOLLOW-UP OF 12 CASES AND CORRELATION WITH THE EXPRESSION OF MEROSIN IN MUSCLE
Authors: TREVISAN CP MARTINELLO F FERRUZZA E FANIN M CHEVALLAY M TOME FMS
Citation: Cp. Trevisan et al., BRAIN ALTERATIONS IN THE CLASSICAL FORM OF CONGENITAL MUSCULAR-DYSTROPHY - CLINICAL AND NEUROIMAGING FOLLOW-UP OF 12 CASES AND CORRELATION WITH THE EXPRESSION OF MEROSIN IN MUSCLE, Child's nervous system, 12(10), 1996, pp. 604-610
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
CARNITINE DEFICIENCY AS A CAUSE OF SUBACUTE MYOPATHY IN THE ELDERLY
Authors: MARTINUZZI A VERGANI L FREDA MP FANIN M SCHIEVANO G ANGELINI C
Citation: A. Martinuzzi et al., CARNITINE DEFICIENCY AS A CAUSE OF SUBACUTE MYOPATHY IN THE ELDERLY, Neurology, 46(2), 1996, pp. 5013-5013
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
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
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
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY
Authors: MARTINUZZI A TSUJINO S VERGANI L SCHIEVANO G CADALDINI M BARTOLONI L FANIN M SICILIANO G SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY, Journal of the neurological sciences, 137(1), 1996, pp. 14-19
MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY
Authors: MELACINI P FANIN M DANIELI GA VILLANOVA C MARTINELLO F MIORIN M FREDA MP MIORELLI M MOSTACCIUOLO ML FASOLI G ANGELINI C DALLAVOLTA S
Citation: P. Melacini et al., MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY, Circulation, 94(12), 1996, pp. 3168-3175
DYSTROPHIN POSITIVE FIBERS IN DUCHENNE DYSTROPHY - ORIGIN AND CORRELATION TO CLINICAL COURSE
Authors: FANIN M DANIELI GA CADALDINI M MIORIN M VITIELLO L ANGELINI C
Citation: M. Fanin et al., DYSTROPHIN POSITIVE FIBERS IN DUCHENNE DYSTROPHY - ORIGIN AND CORRELATION TO CLINICAL COURSE, Muscle & nerve, 18(10), 1995, pp. 1115-1120
POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA
Authors: BARTOLONI L FANIN M FREDA MP DANIELI GA ANGELINI C
Citation: L. Bartoloni et al., POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA, Neurology, 45(4), 1995, pp. 181-182
SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS WITH EFFORT ANGINA - EFFECT OF PROPIONYL-L-CARNITINE
Authors: BREVETTI G FANIN M CARROZZO R DEAMICIS V DILELLO F DIIORIO A MARTONE VD ANGELINI C
Citation: G. Brevetti et al., SKELETAL-MUSCLE HISTOLOGY AND METABOLISM IN PATIENTS WITH EFFORT ANGINA - EFFECT OF PROPIONYL-L-CARNITINE, Circulation, 92(8), 1995, pp. 379-379
MOLECULAR AND CLINICAL CHARACTERIZATION OF ADHALIN-DEFICIENT MUSCULAR-DYSTROPHY
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
CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES
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
PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION
Authors: SICILIANO G FANIN M ANGELINI C POLLINA LE MIORIN M SAAD FA FREDA MP MURATORIO A
Citation: G. Siciliano et al., PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION, Neuromuscular disorders, 4(4), 1994, pp. 381-386
OCCURRENCE OF 2 DIFFERENT INTRAGENIC DELETIONS IN 2 MALE RELATIVES AFFECTED WITH DUCHENNE MUSCULAR-DYSTROPHY
Authors: MOSTACCIUOLO ML MIORIN M VITIELLO L RAMPAZZO A FANIN M ANGELINI C DANIELI GA
Citation: Ml. Mostacciuolo et al., OCCURRENCE OF 2 DIFFERENT INTRAGENIC DELETIONS IN 2 MALE RELATIVES AFFECTED WITH DUCHENNE MUSCULAR-DYSTROPHY, American journal of medical genetics, 50(1), 1994, pp. 84-86
Risultati: 1-25 | 26-30