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Results: 26-50/91
Authors:
NAOM IS
DALESSANDRO M
TOPALOGLU H
SEWRY C
FERLINI A
HELBLINGLECLERC A
GUICHENEY P
WEISSENBACH J
SCHWARTZ K
BUSHBY K
PHILPOT J
DUBOWITZ V
MUNTONI F
Citation: Is. Naom et al., REFINEMENT OF THE LAMININ ALPHA-2 CHAIN LOCUS TO HUMAN-CHROMOSOME 6Q2IN SEVERE AND MILD MEROSIN DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 34(2), 1997, pp. 99-104
Authors:
QUINLIVAN RM
ROBB SA
SEWRY C
DUBOWITZ V
PICCOLO F
KAPLAN JC
Citation: Rm. Quinlivan et al., ABSENCE OF ALPHA-SARCOGLYCAN AND NOVEL MISSENSE MUTATIONS IN THE ALPHA-SARCOGLYCAN GENE IN A YOUNG BRITISH GIRL WITH MUSCULAR-DYSTROPHY, Developmental Medicine and Child Neurology, 39(11), 1997, pp. 770-774
Authors:
BROCKINGTON M
SEWRY C
PHILPOT J
TOPALOGLU H
MANHEIM I
BUSHBY K
DUBOWITZ V
MUNTONI F
Citation: M. Brockington et al., SEARCH FOR THE DEFECTIVE GENE(S) RESPONSIBLE FOR MEROSIN-POSITIVE CONGENITAL MUSCULAR-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 1567-1567
Authors:
CAMPBELL L
POTTER A
IGNATIUS J
MUNTONI F
DUBOWITZ V
DAVIES KE
Citation: L. Campbell et al., GENOTYPE PHENOTYPE CORRELATION IN CHILDHOOD AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY (SMA) BY PULSED-FIELD GEL ANALYSIS/, American journal of human genetics, 61(4), 1997, pp. 1934-1934
Authors:
CAMPBELL L
POTTER A
IGNATIUS J
DUBOWITZ V
DAVIES K
Citation: L. Campbell et al., GENOMIC VARIATION AND GENE CONVERSION IN SPINAL MUSCULAR-ATROPHY - IMPLICATIONS FOR DISEASE PROCESS AND CLINICAL PHENOTYPE, American journal of human genetics, 61(1), 1997, pp. 40-50
Authors:
MERCURI E
PENNOCK J
GOODWIN F
SEWRY C
COWAN F
DUBOWITZ L
DUBOWITZ V
MUNTONI F
Citation: E. Mercuri et al., SEQUENTIAL STUDY OF CENTRAL AND PERIPHERAL NERVOUS-SYSTEM INVOLVEMENTIN AN INFANT WITH MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 6(6), 1996, pp. 425-429
Authors:
SEWRY CA
TAYLOR J
ANDERSON LVB
OZAWA E
POGUE R
PICCOLO F
BUSHBY K
DUBOWITZ V
MUNTONI F
Citation: Ca. Sewry et al., ABNORMALITIES IN ALPHA-SARCOGLYCAN, BETA-SARCOGLYCAN AND GAMMA-SARCOGLYCAN IN PATIENTS WITH LIMB-GIRDLE MUSCULAR-DYSTROPHY, Neuromuscular disorders, 6(6), 1996, pp. 467-474
Authors:
DUBOWITZ V
Citation: V. Dubowitz, HAPPY BIRTHDAY, WORLD-MUSCLE-SOCIETY, Neuromuscular disorders, 6(4), 1996, pp. 227-227
Authors:
DUBOWITZ V
Citation: V. Dubowitz, NEW DEVELOPMENTS IN CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 6(4), 1996, pp. 228-228
Authors:
DUBOWITZ V
Citation: V. Dubowitz, 41ST ENMC INTERNATIONAL WORKSHOP ON CONGENITAL MUSCULAR-DYSTROPHY - 8-10 MARCH 1996, NAARDEN, THE NETHERLANDS, Neuromuscular disorders, 6(4), 1996, pp. 295-306
Authors:
DUBOWITZ V
Citation: V. Dubowitz, COMMENTARY FROM THE EDITOR, Neuromuscular disorders, 6(1), 1996, pp. 1-2
Authors:
LERCHE H
MITROVIC N
DUBOWITZ V
LEHMANNHORN F
Citation: H. Lerche et al., PARAMYOTONIA-CONGENITA - THE R1448P NA-MUSCLE( CHANNEL MUTATION IN ADULT HUMAN SKELETAL), Annals of neurology, 39(5), 1996, pp. 599-608
Authors:
WALLGRENPETTERSSON C
AVELA R
MARCHAND S
KOLEHMAINEN J
TAHVANAINEN E
HANSEN FJ
MUNTONI F
DUBOWITZ V
DEVISSER M
VANLANGEN IM
LAING NG
FAURE S
DELACHAPELLE A
Citation: C. Wallgrenpettersson et al., A GENE FOR AUTOSOMAL RECESSIVE NEMALINE MYOPATHY ASSIGNED TO CHROMOSOME 2Q BY LINKAGE ANALYSIS, Cytogenetics and cell genetics, 73(4), 1996, pp. 13-13
Authors:
SEWRY CA
PHILPOT J
SOROKIN LM
WILSON LA
NAOM I
GOODWIN F
DALESSANDRO M
DUBOWITZ V
MUNTONI F
Citation: Ca. Sewry et al., DIAGNOSIS OF MEROSIN (LAMININ-2) DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY BY SKIN BIOPSY, Lancet, 347(9001), 1996, pp. 582-584
Authors:
RODRIGUES NR
OWEN N
TALBOT K
PATEL S
MUNTONI F
IGNATIUS J
DUBOWITZ V
DAVIES KE
Citation: Nr. Rodrigues et al., GENE DELETIONS IN SPINAL MUSCULAR-ATROPHY, Journal of Medical Genetics, 33(2), 1996, pp. 93-96
Authors:
KHAN Y
HECKMATT JZ
DUBOWITZ V
Citation: Y. Khan et al., SLEEP STUDIES AND SUPPORTIVE VENTILATORY TREATMENT IN PATIENTS WITH CONGENITAL MUSCLE DISORDERS, Archives of Disease in Childhood, 74(3), 1996, pp. 195-200
Authors:
RODRIGUES NR
OWEN N
TALBOT K
IGNATIUS J
DUBOWITZ V
DAVIES KE
Citation: Nr. Rodrigues et al., DELETIONS IN THE SURVIVAL MOTOR-NEURON GENE ON 5Q13 IN AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Human molecular genetics, 4(4), 1995, pp. 631-634
Authors:
WALLGRENPETTERSSON C
AVELA K
MARCHAND S
KOLEHMAINEN J
TAHVANAINEN E
HANSEN FJ
MUNTONI F
DUBOWITZ V
DEVISSER M
VANLANGEN IM
LAING NG
FAURE S
DELACHAPELLE A
Citation: C. Wallgrenpettersson et al., A GENE FOR AUTOSOMAL RECESSIVE NEMALINE MYOPATHY ASSIGNED TO CHROMOSOME 2Q BY LINKAGE ANALYSIS, Neuromuscular disorders, 5(6), 1995, pp. 441-443
Authors:
DUBOWITZ V
Citation: V. Dubowitz, HARDING,ANITA (1952-1995) - OBITUARY, Neuromuscular disorders, 5(6), 1995, pp. 519-520
Authors:
PHILPOT J
SEWRY C
PENNOCK J
DUBOWITZ V
Citation: J. Philpot et al., CLINICAL PHENOTYPE IN CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION WITH EXPRESSION OF MEROSIN IN SKELETAL-MUSCLE, Neuromuscular disorders, 5(4), 1995, pp. 301-305
Authors:
SEWRY CA
PHILPOT J
MAHONY D
WILSON LA
MUNTONI F
DUBOWITZ V
Citation: Ca. Sewry et al., EXPRESSION OF LAMININ SUBUNITS IN CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 5(4), 1995, pp. 307-316
Authors:
PHILPOT J
TOPALOGLU H
PENNOCK J
DUBOWITZ V
Citation: J. Philpot et al., FAMILIAL CONCORDANCE OF BRAIN MAGNETIC-RESONANCE-IMAGING CHANGES IN CONGENITAL MUSCULAR-DYSTROPHY, Neuromuscular disorders, 5(3), 1995, pp. 227-231
Authors:
DUBOWITZ V
FARDEAU M
Citation: V. Dubowitz et M. Fardeau, PROCEEDINGS OF THE 27TH ENMC SPONSORED WORKSHOP ON CONGENITAL MUSCULAR-DYSTROPHY, 22-24 APRIL 1994, THE NETHERLANDS, Neuromuscular disorders, 5(3), 1995, pp. 253-258
Authors:
DUBOWITZ V
Citation: V. Dubowitz, CHAOS IN THE CLASSIFICATION OF SMA - A POSSIBLE RESOLUTION, Neuromuscular disorders, 5(1), 1995, pp. 3-5
Authors:
DUBOWITZ V
DANIELS RJ
DAVIES KE
Citation: V. Dubowitz et al., OLIVOPONTOCEREBELLAR HYPOPLASIA WITH ANTERIOR HORN CELL INVOLVEMENT (SMA) DOES NOT LOCALIZE TO CHROMOSOME 5Q, Neuromuscular disorders, 5(1), 1995, pp. 25-29