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Results: 1-25 | 26-50 | 51-75 | 76-85
Results: 1-25/85
NOVEL NONSENSE MUTATION (C-]A NT-10512) IN EXON-72 OF DYSTROPHIN GENELEADING TO EXON SKIPPING IN A PATIENT WITH A MILD DYSTROPHINOPATHY
Authors: MELIS MA MUNTONI F CAU M LOI D PUDDU A BOCCONE L MATEDDU A CIANCHETTI C CAO A
Citation: Ma. Melis et al., NOVEL NONSENSE MUTATION (C-]A NT-10512) IN EXON-72 OF DYSTROPHIN GENELEADING TO EXON SKIPPING IN A PATIENT WITH A MILD DYSTROPHINOPATHY, Human mutation, 1998, pp. 137-138
IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36
Authors: MOGHADASZADEH B DESGUERRE I TOPALOGLU H MUNTONI F PAVEK S MAYER M SEWRY C FARDEAU M TOME FMS GUICHENEY P
Citation: B. Moghadaszadeh et al., IDENTIFICATION OF A NEW LOCUS FOR CONGENITAL MUSCULAR-DYSTROPHY WITH RIGID SPINE SYNDROME TO CHROMOSOME 1P35-36, European journal of human genetics, 6, 1998, pp. 506-506
DRB1-DQA1-DQB1 LOCI AND MULTIPLE-SCLEROSIS PREDISPOSITION IN THE SARDINIAN POPULATION
Authors: MARROSU MG MURRU MR COSTA G MURRU R MUNTONI F CUCCA F
Citation: Mg. Marrosu et al., DRB1-DQA1-DQB1 LOCI AND MULTIPLE-SCLEROSIS PREDISPOSITION IN THE SARDINIAN POPULATION, Human molecular genetics (Print), 7(8), 1998, pp. 1235-1237
MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION
Authors: MANILAL S RECAN D SEWRY CA HOELTZENBEIN M LLENSE S LETURCQ F DEBURGRAVE N BARBOT JC MAN NT MUNTONI F WEHNERT M KAPLAN JC MORRIS GE
Citation: S. Manilal et al., MUTATIONS IN EMERY-DREIFUSS MUSCULAR-DYSTROPHY AND THEIR EFFECTS ON EMERIN PROTEIN EXPRESSION, Human molecular genetics, 7(5), 1998, pp. 855-864
A SEVERE CLINICAL AND PATHOLOGICAL VARIANT OF CENTRAL CORE DISEASE WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE
Authors: MANZUR AY SEWRY CA ZIPRIN J DUBOWITZ V MUNTONI F
Citation: Ay. Manzur et al., A SEVERE CLINICAL AND PATHOLOGICAL VARIANT OF CENTRAL CORE DISEASE WITH POSSIBLE AUTOSOMAL RECESSIVE INHERITANCE, Neuromuscular disorders, 8(7), 1998, pp. 467-473
LAMININ ALPHA-2-CHAIN GENE-MUTATIONS IN 2 SIBLINGS PRESENTING WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: NAOM I DALESSANDRO M SEWRY CA PHILPOT J MANZUR AY DUBOWITZ V MUNTONI F
Citation: I. Naom et al., LAMININ ALPHA-2-CHAIN GENE-MUTATIONS IN 2 SIBLINGS PRESENTING WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 8(7), 1998, pp. 495-501
EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: MUNTONI F LICHTAROWICZKRYNSKA EJ SEWRY CA MANILAL S RECAN D LLENSE S TAYLOR J MORRIS GE DUBOWITZ V
Citation: F. Muntoni et al., EARLY PRESENTATION OF X-LINKED EMERY-DREIFUSS MUSCULAR-DYSTROPHY RESEMBLING LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 8(2), 1998, pp. 72-76
VISUAL FUNCTION IN CHILDREN WITH MEROSIN-DEFICIENT AND MEROSIN-POSITIVE CONGENITAL MUSCULAR-DYSTROPHY
Authors: MERCURI E ANKER S PHILPOT J SEWRY C DUBOWITZ V MUNTONI F
Citation: E. Mercuri et al., VISUAL FUNCTION IN CHILDREN WITH MEROSIN-DEFICIENT AND MEROSIN-POSITIVE CONGENITAL MUSCULAR-DYSTROPHY, Pediatric neurology, 18(5), 1998, pp. 399-401
IMPACT OF NASAL VENTILATION ON SURVIVAL IN HYPERCAPNIC DUCHENNE MUSCULAR-DYSTROPHY
Authors: SIMONDS AK MUNTONI F HEATHER S FIELDING S
Citation: Ak. Simonds et al., IMPACT OF NASAL VENTILATION ON SURVIVAL IN HYPERCAPNIC DUCHENNE MUSCULAR-DYSTROPHY, Thorax, 53(11), 1998, pp. 949-952
EARLY-ONSET, AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH EMERY-DREIFUSS PHENOTYPE AND NORMAL EMERIN EXPRESSION
Authors: TAYLOR J SEWRY CA DUBOWITZ V MUNTONI F
Citation: J. Taylor et al., EARLY-ONSET, AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH EMERY-DREIFUSS PHENOTYPE AND NORMAL EMERIN EXPRESSION, Neurology, 51(4), 1998, pp. 1116-1120
CONGENITAL MUSCULAR-DYSTROPHY - FROM RAGS TO RICHES
Authors: MUNTONI F SEWRY CA
Citation: F. Muntoni et Ca. Sewry, CONGENITAL MUSCULAR-DYSTROPHY - FROM RAGS TO RICHES, Neurology, 51(1), 1998, pp. 14-16
CHARCOT-MARIE-TOOTH-DISEASE TYPE-2 ASSOCIATED WITH MUTATION OF THE MYELIN PROTEIN ZERO GENE
Authors: MARROSU MG VACCARGIU S MARROSU G VANNELLI A CIANCHETTI C MUNTONI F
Citation: Mg. Marrosu et al., CHARCOT-MARIE-TOOTH-DISEASE TYPE-2 ASSOCIATED WITH MUTATION OF THE MYELIN PROTEIN ZERO GENE, Neurology, 50(5), 1998, pp. 1397-1401
INTRAVENTRICULAR ALPHA-INTERFERON IN SUBACUTE SCLEROSING PANENCEPHALITIS
Authors: CIANCHETTI C MARROSU MG MUNTONI F FRATTA AL ZUDDAS A
Citation: C. Cianchetti et al., INTRAVENTRICULAR ALPHA-INTERFERON IN SUBACUTE SCLEROSING PANENCEPHALITIS, Neurology, 50(1), 1998, pp. 315-315
ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2
Authors: BUSHBY K ANDERSON LVB POLLITT C NAOM I MUNTONI F BINDOFF L
Citation: K. Bushby et al., ABNORMAL MEROSIN IN ADULTS - A NEW FORM OF LATE-ONSET MUSCULAR-DYSTROPHY NOT LINKED TO CHROMOSOME 6Q2, Brain, 121, 1998, pp. 581-588
THE 5'-REGION OF INTRON-11 OF THE DYSTROPHIN GENE CONTAINS TARGET SEQUENCES FOR MOBILE ELEMENTS AND 3 OVERLAPPING ORFS
Authors: FERLINI A MUNTONI F
Citation: A. Ferlini et F. Muntoni, THE 5'-REGION OF INTRON-11 OF THE DYSTROPHIN GENE CONTAINS TARGET SEQUENCES FOR MOBILE ELEMENTS AND 3 OVERLAPPING ORFS, Biochemical and biophysical research communications, 242(2), 1998, pp. 401-406
A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY
Authors: FERLINI A GALIE N MERLINI L SEWRY C BRANZI A MUNTONI F
Citation: A. Ferlini et al., A NOVEL ALU-LIKE ELEMENT REARRANGED IN THE DYSTROPHIN GENE CAUSES A SPLICING MUTATION IN A FAMILY WITH X-LINKED DILATED CARDIOMYOPATHY, American journal of human genetics, 63(2), 1998, pp. 436-446
EVIDENCE OF LEFT-VENTRICULAR DYSFUNCTION IN CHILDREN WITH MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: SPYROU N PHILPOT J FOALE R CAMICI PG MUNTONI F
Citation: N. Spyrou et al., EVIDENCE OF LEFT-VENTRICULAR DYSFUNCTION IN CHILDREN WITH MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, The American heart journal, 136(3), 1998, pp. 474-476
DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY
Authors: MUNTONI F DILENARDA A PORCU M SINAGRA G MATEDDU A MARROSU G FERLINI A CAU M MILASIN J MELIS MA MARROSU MG CIANCHETTI C SANNA A FALASCHI A CAMERINI F GIACCA M MESTRONI L
Citation: F. Muntoni et al., DYSTROPHIN GENE ABNORMALITIES IN 2 PATIENTS WITH IDIOPATHIC DILATED CARDIOMYOPATHY, HEART, 78(6), 1997, pp. 608-612
IMMUNOLOCALIZATION OF SEVERAL LAMININ CHAINS IN THE NORMAL HUMAN CENTRAL AND PERIPHERAL NERVOUS-SYSTEM
Authors: VILLANOVA M SEWRY C MALANDRINI A TOTI P MUNTONI F MERLINI L TORELLI S TOSI P MARALDI NM GUAZZI GC
Citation: M. Villanova et al., IMMUNOLOCALIZATION OF SEVERAL LAMININ CHAINS IN THE NORMAL HUMAN CENTRAL AND PERIPHERAL NERVOUS-SYSTEM, Journal of submicroscopic cytology and pathology, 29(3), 1997, pp. 409-413
CORRELATIVE MR-IMAGING AND P-31-MR SPECTROSCOPY STUDY IN SARCOGLYCAN DEFICIENT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: LODI R MUNTONI F TAYLOR J KUMAR S SEWRY CA BLAMIRE A STYLES P TAYLOR DJ
Citation: R. Lodi et al., CORRELATIVE MR-IMAGING AND P-31-MR SPECTROSCOPY STUDY IN SARCOGLYCAN DEFICIENT LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 7(8), 1997, pp. 505-511
42ND ENMC SPONSORED INTERNATIONAL WORKSHOP - X-LINKED CARDIOMYOPATHIES - 21-23 JUNE 1996, NAARDEN, THE NETHERLANDS
Authors: NIGRO G MUNTONI F
Citation: G. Nigro et F. Muntoni, 42ND ENMC SPONSORED INTERNATIONAL WORKSHOP - X-LINKED CARDIOMYOPATHIES - 21-23 JUNE 1996, NAARDEN, THE NETHERLANDS, Neuromuscular disorders, 7(6-7), 1997, pp. 397-403
EARLY-ONSET AUTOSOMAL-DOMINANT MYOPATHY WITH RIGIDITY OF THE SPINE - A POSSIBLE ROLE FOR LAMININ BETA-1
Authors: TAYLOR J MUNTONI F ROBB S DUBOWITZ V SEWRY C
Citation: J. Taylor et al., EARLY-ONSET AUTOSOMAL-DOMINANT MYOPATHY WITH RIGIDITY OF THE SPINE - A POSSIBLE ROLE FOR LAMININ BETA-1, Neuromuscular disorders, 7(4), 1997, pp. 211-216
VARIABLE CLINICAL PHENOTYPE IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY ASSOCIATED WITH DIFFERENTIAL IMMUNOLABELING OF 2 FRAGMENTS OF THE LAMININ ALPHA-2 CHAIN
Authors: SEWRY CA NAOM I DALESSANDRO M SOROKIN L BRUNO S WILSON LA DUBOWITZ V MUNTONI F
Citation: Ca. Sewry et al., VARIABLE CLINICAL PHENOTYPE IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY ASSOCIATED WITH DIFFERENTIAL IMMUNOLABELING OF 2 FRAGMENTS OF THE LAMININ ALPHA-2 CHAIN, Neuromuscular disorders, 7(3), 1997, pp. 169-175
PRENATAL-DIAGNOSIS IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors: NAOM I SEWRY C DALESSANDRO M TOPALOGLU H FERLINI A WILSON L DUBOWITZ V MUNTONI F
Citation: I. Naom et al., PRENATAL-DIAGNOSIS IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 7(3), 1997, pp. 176-179
GENE CONVERSION AT THE SMN LOCUS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY DOES NOT PREDICT A MILD PHENOTYPE
Authors: TALBOT K RODRIGUES NR IGNATIUS J MUNTONI F DAVIES KE
Citation: K. Talbot et al., GENE CONVERSION AT THE SMN LOCUS IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY DOES NOT PREDICT A MILD PHENOTYPE, Neuromuscular disorders, 7(3), 1997, pp. 198-201
Risultati: 1-25 | 26-50 | 51-75 | 76-85