D. Gardner‐medwin

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Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

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

S. Bhattacharya, M. Johnson, S. Bhattacharya, 2004, Acta Neuropathologica.

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

V. Ramesh, A. Gholkar, P. Baxter, 2001, Developmental medicine and child neurology.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

Encephalitis Lethargica‐like Illness in a Five‐year‐old

R. Appleton, A. Aynsley-Green, D. Gardner‐Medwin, 1991, Developmental medicine and child neurology.

Prevalence and incidence of Becker muscular dystrophy

M. Thambyayah, D. Gardner-Medwin, K. Bushby, 1991, The Lancet.

Vigabatrin monotherapy in resistant neonatal seizures

P. Baxter, D. Barwick, J. Livingston, 1995, Seizure.

Dystrophin in skeletal muscle II. Immunoreactivity in patients with Xp21 muscular dystrophy

Margaret A. Johnson, S. Bhattacharya, C. Young, 1989, Journal of the Neurological Sciences.

Lipid Storage Myopathy due to Glutaric Aciduria Type II: Treatment of a Potentially Fatal Myopathy

D. Turnbull, M. Johnson, J. Eyre, 1988, Developmental medicine and child neurology.

Duchenne muscular dystrophy. Use of rubidium chloride Rb 86 in the detection of carriers of the gene.

W. Bradley, J. Walton, R. Hesp, 1971, Archives of neurology.

Orofaciodigital syndrome type III in two sibs.

R. Smith, D. Gardner‐Medwin, D. Gardner‐medwin, 1993, Journal of medical genetics.

Myokymia with impaired muscular relaxation.

J. Walton, D. Gardner‐Medwin, D. Gardner‐medwin, 1969, Lancet.

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

K. Davies, J. Burn, S. Forrest, 1987, Nature.

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

D. Beeson, C. Young, P. Fawcett, 2006, Brain : a journal of neurology.

CSF antigliadin antibodies and the Ramsay Hunt syndrome

D. Turnbull, P. Chinnery, P. Reading, 1997, Neurology.

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

K. Bushby, M. Johnson, L. Nicholson, 1993, Archives of disease in childhood.

Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.

K. Bushby, J. D. den Dunnen, M. Johnson, 1993, Journal of medical genetics.

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

K. Bushby, K. Bushby, D. Gardner‐Medwin, 1993, Journal of Neurology.

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

K. Bushby, M. Johnson, J. Harris, 1993, Journal of Neurology.

Some studies of the duchenne and autosomal recessive types of muscular dystrophy

D. Gardner‐Medwin, P. Sharpies, D. Gardner‐medwin, 1989, Brain and Development.

Dystrophin analysis in the diagnosis of muscular dystrophy.

L. Nicholson, H. Hughes, A. Norman, 1989, Archives of disease in childhood.

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

J. Stirling, D. Harmon, D. Gardner‐Medwin, 1993, Journal of medical genetics.

beta-hexosaminidase alpha subunit gene . Tay-Sachs patient are both in exon 1 of the Two new mutations in a late infantile

J. Stirling, D. Harmon, D. Gardner‐Medwin, 2022 .

Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the-hexosaminidase oc subunit gene

J. Stirling, D. Harmon, D. Gardner‐Medwin, 2022 .

Transmission of Proteus syndrome from father to son?

J. Burn, J. Goodship, A. Redfearn, 1991, Journal of medical genetics.

Electrical properties of muscle fibre membranes in man.

W. H. Stanton, A. McComas, A J McComas, 1968, Journal of neurology, neurosurgery, and psychiatry.

Muscle fibrosis and contractures in a pethidine addict.

F. Mastaglia, P. Hudgson, D. Gardner‐Medwin, 1971, British medical journal.

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

P. Griffiths, A. Gholkar, P. Griffiths, 1996, Neuropediatrics.

Cellular and humoral responses to measles in subacute sclerosing panencephalitis.

E. A. Caspary, M. Saunders, D. Gardner‐Medwin, 1969, Lancet.

Clinical features and classification of the muscular dystrophies.

D. Gardner‐Medwin, D. Gardner‐medwin, 1980, British medical bulletin.

DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

K. Bushby, R. Appleton, L. Anderson, 1995, Developmental medicine and child neurology.

The History of a Genetic Disease: Duchenne Muscular Dystrophy or Meryon's Disease

D. Gardner‐Medwin, D. Gardner‐medwin, 1995 .

INTERVIEWS WITH PARENTS OF BOYS SUFFERING FROM DUCHENNE MUSCULAR DYSTROPHY

D. Gardner-Medwin, G. Hosking, M. Firth, 1983, Developmental medicine and child neurology.

Bone marrow transplantation for glycogen storage disease type II (Pompé's disease)

A. Pearson, M. Goldfinch, J. Watson, 1986, The New England journal of medicine.

Combined enzyme defect of mitochondrial fatty acid oxidation.

D. Turnbull, L. Bindoff, M. Pourfarzam, 1992, The Journal of clinical investigation.

A trial of flunarizine in the treatment of duchenne muscular dystrophy

D. Dick, T. Walls, M. Gibson, 1986, Muscle & nerve.

Multiple chromosome rearrangements in a childhood ependymoma.

R. Perry, N. Bown, A. Pearson, 1988, Cancer genetics and cytogenetics.

Clinical Features and Molecular Analysis of the a Thalassemia / Mental Retardation Syndromes . II . Cases without Detectable Abnormality of the a Globin Complex A .

D. Weatherall, D. Higgs, V. Buckle, 2006 .

Recognising and preventing Duchenne muscular dystrophy.

D. Gardner‐Medwin, D. Gardner‐medwin, 1983, British medical journal.

Absent nails, kinesogenic choreoathetosis, epilepsy and developmental delay ‐ a new autosomal dominant disorder?

J. Burn, S. Lynch, K. Bushby, 1997, Clinical dysmorphology.

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

P. Griffiths, A. Gholkar, P. Griffiths, 1994, Neuropediatrics.

EARLY DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

D. Gardner-Medwin, S. Bundey, S. Green, 1978, The Lancet.

Studies of the carrier state in the Duchenne type of muscular dystrophy. I. Effect of exercise on serum creatine kinase activity.

P. Hudgson, J. Walton, D. Gardner‐Medwin, 1967, Journal of neurology, neurosurgery, and psychiatry.

Diaphragmatic paralysis due to spinal muscular atrophy. An unrecognised cause of respiratory failure in infancy?

J. Stephenson, R. Mcwilliam, D. Doyle, 1985, Archives of disease in childhood.

A genetic study of subacute and chronic spinal muscular atrophy in childhood A nosological analysis of 124 index patients

C. Carter, J. Pearn, J. Walton, 1978, Journal of the Neurological Sciences.

The detection of carriers of X-linked muscular dystrophy genes. A review of some methods studied in Newcastle upon Tyne.

J. Walton, D. Gardner‐Medwin, R. Pennington, 1971, Journal of the neurological sciences.

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

A. Wilkie, D. Weatherall, D. Higgs, 1990, American journal of human genetics.

Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters.

H. Moser, Y. Kishimoto, B. Derby, 1971, Transactions of the American Neurological Association.

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy

G. Nicholson, J. Walton, M. Nicholson, 1979, Journal of the Neurological Sciences.

Population frequencies of three DNA alleles linked to the Duchenne muscular dystrophy gene.

A. Clarke, S. Bhattacharya, D. Gardner‐medwin, 1989, Journal of Medical Genetics.

Severe muscular dystrophy in girls

H. Johnston, D. Gardner‐Medwin, D. Gardner‐medwin, 1984, Journal of the Neurological Sciences.

Adult myopathy from glycogen storage disease due to acid maltase deficiency.

P. Hudgson, J. Walton, M. Worsfold, 1968, Brain : a journal of neurology.

Dystrophin expression in Duchenne patients with "in-frame" gene deletions.

K. Bushby, M. Johnson, I. Ginjaar, 1993, Neuropediatrics.

Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex

D. Turnbull, L. Bindoff, J. Lindsay, 1989, Journal of the Neurological Sciences.

Intracranial Calcification and Seizures: a Case of Central Neurofibromatosis

A. Clarke, W. Church, R. Sengupta, 1990, Developmental medicine and child neurology.

Carrier testing in families of isolated cases of duchenne muscular dystrophy Creatine kinase activities in female relatives of mothers with normal CK activity

G. Nicholson, J. Walton, R. Lane, 1981, Journal of the Neurological Sciences.

Myopathy associated with abnormal lipid metabolism in skeletal muscle.

W. Bradley, P. Hudgson, J. Walton, 1969, Lancet.

Benign spinal muscular atrophy arising in childhood and adolescence.

P. Hudgson, J. Walton, D. Gardner‐Medwin, 1967, Journal of the neurological sciences.

Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex

I. M. Shepherd, D. Turnbull, J. Lindsay, 1988, Journal of Inherited Metabolic Disease.

Congenital Livedo Reticularis and Recurrent Stroke‐like Episodes

P. Baxter, C. Moss, D. Gardner‐Medwin, 1993, Developmental medicine and child neurology.

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

D. Gardner‐Medwin, D. Gardner‐medwin, 1979, Developmental medicine and child neurology.

Management of muscular dystrophy.

D. Gardner‐Medwin, D. Gardner‐medwin, 1977, Physiotherapy.

Objectives in the management of Duchenne muscular dystrophy.

D. Gardner‐medwin, 1977, Israel journal of medical sciences.

A neurological study of newborn infants

D. J. Beintema, D. Gardner‐medwin, 1969 .

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

K. Bushby, M. Johnson, J. Goodship, 1993, Neuromuscular Disorders.

CEREBRAL GIGANTISM?

D. Gardner‐Medwin, D. Gardner‐medwin, 1969, Developmental medicine and child neurology.

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy

A. Roses, R. Lane, R. Lane, 1980, Neurology.

CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (1) NEONATAL SCREENING

D. Gardner‐Medwin, D. Gardner‐medwin, 1979, Developmental medicine and child neurology.

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

V. Ramesh, D. Gardner‐Medwin, D. Gardner‐medwin, 1992, Developmental medicine and child neurology.

HEAD CIRCUMFERENCE AND INTELLECTUAL PERFORMANCE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

R. Appleton, K. Bushby, J. Welch, 1991, Developmental medicine and child neurology.

Myokymia with impaired muscular relaxation.

J. Walton, D. Gardner‐medwin, 1969, Lancet.

Winging of the Scapula: The Underlying Biomechanics and an Orthotic Solution

G. Johnson, J. Peacock, D. Gardner‐Medwin, 1995, Proceedings of the Institution of Mechanical Engineers. Part H, Journal of engineering in medicine.

Respiratory Chain Dysfunction in Progressive Neuronal Degeneration of Childhood With Liver Disease

P. Griffiths, R. Perry, A. Burt, 1996, Journal of child neurology.

Familial intermittent ataxia with possible X-linked recessive inheritance Two patients with abnormal pyruvate metabolism and a response to acetazolamide

D. Gardner‐Medwin, R. Pennington, I. Livingstone, 1984, Journal of the Neurological Sciences.

Encephalomyelitis with seroconversion to Listeria monocytogenes.

J. E. Wraith, C. Mpofu, P. Baxter, 1991, Archives of disease in childhood.

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

P. Griffiths, P. Baxter, T. Kelly, 1996, Developmental medicine and child neurology.