Search Results - "Dubowitz, V"

Steroids in Duchenne dystrophy by Dubowitz, V

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Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy by Dubowitz, V.

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Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement by Cullup, T, Lamont, P.J, Cirak, S, Damian, M.S, Wallefeld, W, Gooding, R, Tan, S.V, Sheehan, J, Muntoni, F, Abbs, S, Sewry, C.A, Dubowitz, V, Laing, N.G, Jungbluth, H

“…Abstract Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the “core myopathies”) have been mainly associated with mutations in the skeletal muscle…”
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Erratum to “Clinical casebook: Enigmatic conflict of clinical and molecular diagnosis in Duchenne/Becker muscular dystrophy” [Neuromuscular Disorders 16 (2006) 813] by Dubowitz, V

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Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype by Dubowitz, Victor

“…The classical form of severe spinal muscular atrophy (SMA type 1; Werdnig-Hoffmann disease) has a very consistent clinical phenotype that is well recognized by…”
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68th ENMC international workshop (5th international workshop): On congenital muscular dystrophy, 9-11 April 1999, Naarden, The Netherlands by Dubowitz, V

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Optimality score for the neurologic examination of the infant at 12 and 18 months of age by Haataja, Leena, Mercuri, Eugenio, Regev, Rivka, Cowan, Frances, Rutherford, Mary, Dubowitz, Victor, Dubowitz, Lilly

“…The aim of this study was to develop and validate a simple, quantifiable, neurologic examination for infants between 2 and 24 months of age. The assessment…”
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Influenzal encephalopathy by Dubowitz, V.

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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores by JUNGBLUTH, H, MÜLLER, C. R, LAING, N. G, DAVIS, M. R, ROPER, H. P, DUBOWITZ, V, BYDDER, G, SEWRY, C. A, MUNTONI, F, HALLIGER-KELLER, B, BROCKINGTON, M, BROWN, S. C, FENG, L, CHATTOPADHYAY, A, MERCURI, E, MANZUR, A. Y, FERREIRO, A

“…Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three…”
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22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993 by Dubowitz, V

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An optimality score for the neurologic examination of the term newborn by Dubowitz, Lilly, Mercuri, Eugenio, Dubowitz, Victor

“…We describe the application of a revised version of the Dubowitz neurologic examination of the newborn in 224 low-risk, term newborn infants. The method has…”
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Intravenous immunoglobulin in juvenile dermatomyositis--four year review of nine cases by Sansome, A, Dubowitz, V

“…Juvenile dermatomyositis is difficult to treat, compounded by complications of the disease itself as well as side effects of treatment. The mainstay of…”
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41st ENMC international workshop on congenital muscular dystrophy 8–10 March 1996, Naarden, The Netherlands by Dubowitz, V.

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75th European Neuromuscular Centre International Workshop: 2nd Workshop on the Treatment of Muscular Dystrophy 10–12 December, 1999, Naarden, The Netherlands by Dubowitz, Victor

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Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy by Rodrigues, N R, Owen, N, Talbot, K, Ignatius, J, Dubowitz, V, Davies, K E

“…Autosomal recessive spinal muscular atrophy is a motor neuron disease which affects about 1 in 10,000 births. Recent evidence shows that the candidate region…”
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Feeding problems in merosin deficient congenital muscular dystrophy by Philpot, J, Bagnall, A, King, C, Dubowitz, V, Muntoni, F

“…Feeding difficulties were assessed in 14 children (age range 2–14 years) with merosin deficient congenital muscular dystrophy, a disease characterised by…”
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Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging by Philpot, J, Cowan, F, Pennock, J, Sewry, C, Dubowitz, V, Bydder, G, Muntoni, F

“…Children with merosin-deficient congenital muscular dystrophy (CMD) have striking white matter changes on T-2 weighted brain magnetic resonance imaging (MRI)…”
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Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2-13.3 by Brzustowicz, L. M, Lehner, T, Castilla, L. H, Penchaszadeh, G. K, Wilhelmsen, K. C, Daniels, R, Davies, K. E, Leppert, M, Ziter, F, Wood, D, Dubowitz, V, Zerres, K, Hausmanowa-Petrusewicz, I, Ott, J, Munsat, T. L, Gilliam, T. C

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Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle by Lerche, H, Mitrovic, N, Dubowitz, V, Lehmann-Horn, F

“…Twitch force and Na+ currents were investigated in a muscle biopsy specimen from a patient with paramyotonia congenita carrying the dominant Arg-1448-Pro…”
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Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy by Mercuri, E, Counsell, S, Allsop, J, Jungbluth, H, Kinali, M, Bonne, G, Schwartz, K, Bydder, G, Dubowitz, V, Muntoni, F

“…The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2)…”
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