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Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with ‘limb-girdle myasthenia’

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2061-2076

2006

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PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT

Developmental medicine and child neurology, 1996-11, Vol.38 (11), p.998-1006

1996

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Tethering of the vertebral artery in the congenital arcuate foramen of the atlas vertebra: a possible cause of vertebral artery dissection in children

Developmental medicine and child neurology, 2001-07, Vol.43 (7), p.491-496

2001

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Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis

Developmental medicine and child neurology, 1996-08, Vol.38 (8), p.739-743

1996

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Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy

Neuromuscular disorders : NMD, 1993, Vol.3 (1), p.57-64

1993

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Combined enzyme defect of mitochondrial fatty acid oxidation

The Journal of clinical investigation, 1992-10, Vol.90 (4), p.1219-1225

1992

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Prevalence and incidence of Becker muscular dystrophy

The Lancet (British edition), 1991-04, Vol.337 (8748), p.1022-1024

1991

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The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I: Natural history

Journal of neurology, 1993-02, Vol.240 (2), p.98-104

1993

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CSF antigliadin antibodies and the Ramsay Hunt syndrome

Neurology, 1997-10, Vol.49 (4), p.1131

1997

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DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

Developmental medicine and child neurology, 1995-03, Vol.37 (3), p.260-269

1995

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Winging of the scapula: the underlying biomechanics and an orthotic solution

Proceedings of the Institution of Mechanical Engineers. Part H, Journal of engineering in medicine, 1995-12, Vol.209 (4), p.215

1995

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The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II: Correlation of phenotype with genetic and protein abnormalities

Journal of neurology, 1993-02, Vol.240 (2), p.105-112

1993

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Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

Acta neuropathologica, 1990-01, Vol.80 (3), p.239-250

1990

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Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family

Neurology, 1992-08, Vol.42 (8), p.1477

1992

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Preferential deletion of exons in Duchenne and Becker muscular dystrophies

Nature (London), 1987-10, Vol.329 (6140), p.638-640

1987

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New questions about the muscular dystrophies

Annals of the rheumatic diseases, 1995-07, Vol.54 (7), p.536-538

Gardner-Medwin, D

1995

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The radiological features of hemimegalencephaly including three cases associated with proteus syndrome

Neuropediatrics, 1994-06, Vol.25 (3), p.140

1994

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CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (1) NEONATAL SCREENING

Developmental medicine and child neurology, 1979-06, Vol.21 (3), p.390-393

Gardner‐Medwin, D.

1979

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Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II, Cases without detectable abnormality of the α globin complex

American journal of human genetics, 1990-06, Vol.46 (6), p.1127-1140

1990

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Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin

Neuropediatrics, 1996-02, Vol.27 (1), p.54

1996

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Orofaciodigital syndrome type III in two sibs

Journal of medical genetics, 1993-10, Vol.30 (10), p.870-872

1993

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CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (2) BRACING FOR AMBULATION

Developmental medicine and child neurology, 1979-10, Vol.21 (5), p.659-662

Gardner‐Medwin, D.

1979

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Transmission of Proteus syndrome from father to son?

Journal of medical genetics, 1991-11, Vol.28 (11), p.781-785

1991

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Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

Archives of disease in childhood, 1993-05, Vol.68 (5), p.632-636

1993

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Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

Developmental medicine and child neurology, 1992-01, Vol.34 (1), p.73-79

1992

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Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with ‘limb-girdle myasthenia’

PYRIDOXINE‐DEPENDENT SEIZURES: DEMOGRAPHIC, CLINICAL, MRI AND PSYCHOMETRIC FEATURES, AND EFFECT OF DOSE ON INTELLIGENCE QUOTIENT

Tethering of the vertebral artery in the congenital arcuate foramen of the atlas vertebra: a possible cause of vertebral artery dissection in children

Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis

Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy

Combined enzyme defect of mitochondrial fatty acid oxidation

Prevalence and incidence of Becker muscular dystrophy

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I: Natural history

CSF antigliadin antibodies and the Ramsay Hunt syndrome

DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

Winging of the scapula: the underlying biomechanics and an orthotic solution

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II: Correlation of phenotype with genetic and protein abnormalities

Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

New questions about the muscular dystrophies

The radiological features of hemimegalencephaly including three cases associated with proteus syndrome

CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (1) NEONATAL SCREENING

Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. II, Cases without detectable abnormality of the α globin complex

Arthrogryposis multiplex congenita and bilateral parietal polymicrogyria in association with the intrauterine death of a twin

Orofaciodigital syndrome type III in two sibs

CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (2) BRACING FOR AMBULATION

Transmission of Proteus syndrome from father to son?

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy

Familial Paroxysmal Rhabdomyolysis: Management of Two Cases of the Non‐exertional Type

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