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Results:
1-16
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Results: 16
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
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
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
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:
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:
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:
PHILPOT J
Citation: J. Philpot, WORLD PETROCHEMICAL TRADE, Chemistry and Industry, (19), 1996, pp. 723-726
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:
PHILPOT J
MUNTONI F
SKELLETT S
DUBOWITZ V
Citation: J. Philpot et al., CONGENITAL SYMMETRICAL WEAKNESS OF THE UPPER LIMBS RESEMBLING BRACHIAL-PLEXUS PALSY - A POSSIBLE SEQUEL OF DRUG TOXICITY IN FIRST TRIMESTEROF PREGNANCY, Neuromuscular disorders, 5(1), 1995, pp. 67-69
Authors:
SHORER Z
PHILPOT J
MUNTONI F
SEWRY C
DUBOWITZ V
Citation: Z. Shorer et al., DEMYELINATING PERIPHERAL NEUROPATHY IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Journal of child neurology, 10(6), 1995, pp. 472-475
Authors:
MERCURI E
DUBOWITZ L
BERARDINELLI A
PENNOCK J
JONGMANS M
HENDERSON S
MUNTONI F
SEWRY C
PHILPOT J
DUBOWITZ V
Citation: E. Mercuri et al., MINOR NEUROLOGICAL AND PERCEPTUOMOTOR DEFICITS IN CHILDREN WITH CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION WITH BRAIN MRI CHANGES, Neuropediatrics, 26(3), 1995, pp. 156-162
Authors:
MERCURI E
MUNTONI F
BERARDINELLI A
PENNOCK J
SEWRY C
PHILPOT J
DUBOWITZ V
Citation: E. Mercuri et al., SOMATOSENSORY AND VISUAL-EVOKED POTENTIALS IN CONGENITAL MUSCULAR-DYSTROPHY - CORRELATION WITH MRI CHANGES AND MUSCLE MEROSIN STATUS, Neuropediatrics, 26(1), 1995, pp. 3-7
PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY
Authors:
DUBOWITZ V
MERCURI E
MUNTONI F
PHILPOT J
SEWRY CA
SHORER Z
Citation: V. Dubowitz et al., PERIPHERAL AND CENTRAL-NERVOUS-SYSTEM INVOLVEMENT IN MEROSIN-DEFICIENT CONGENITAL MUSCULAR-DYSTROPHY, Neurology, 45(4), 1995, pp. 407-407
Authors:
HILLAIRE D
LECLERC A
FAURE S
TOPALOGLU H
CHIANNILKULCHAI N
GUICHENEY P
GRINAS L
LEGOS P
PHILPOT J
EVANGELISTA T
ROUTON MC
MAYER M
PELLISSIER JF
ESTOURNET B
BAROIS A
HENTATI F
FEINGOLD N
BECKMANN JS
DUBOWITZ V
TOME FMS
FARDEAU M
Citation: D. Hillaire et al., LOCALIZATION OF MEROSIN-NEGATIVE CONGENITAL MUSCULAR-DYSTROPHY TO CHROMOSOME 6Q2 BY HOMOZYGOSITY MAPPING, Human molecular genetics, 3(9), 1994, pp. 1657-1661
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