D. Gardner‐Medwin

发表

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.

A myopathy associated with lipid storage.

W. Bradley, P. Hudgson, J. Walton, 1972, Journal of the neurological sciences.

Benign spinal muscular atrophy arising in childhood and adolescence.

P. Hudgson, J. Walton, D. Gardner‐Medwin, 1967, 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.

Myopathy associated with abnormal lipid metabolism in skeletal muscle.

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

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.

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.

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy

G. Nicholson, J. Walton, M. Nicholson, 1979, 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.

CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY: ASSESSMENT OF THE EFFECT OF AGE ON DETECTION-RATE WITH SERUM-CREATINE-KINASE-ACTIVITY

G. Nicholson, J. Walton, D. Gardner‐Medwin, 1979, The Lancet.

Mutation rate in Duchenne type of muscular dystrophy.

D. Gardner‐Medwin, David GARDNER-MEDWINt, 1970, Journal of medical genetics.

Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy

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

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.

Nemaline myopathy

J. Fulthorpe, P. Hudgson, J. Walton, 1969, Neurology.

Nemaline myopathy

J. Fulthorpe, P. Hudgson, J. Walton, 1967, Neurology.

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.

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

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

Neutrophil function in duchenne muscular dystrophy

D. Gardner‐Medwin, U. Karagol, F. Mastaglia, 1986, Journal of the Neurological Sciences.

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.

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.

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

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

Recognising and preventing Duchenne muscular dystrophy.

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

CONTROVERSIES ABOUT DUCHENNE MUSCULAR DYSTROPHY. (1) NEONATAL SCREENING

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

Clinical features and classification of the muscular dystrophies.

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

Failure of first-line therapy with intravenous immunoglobulin in a child with scleromyositis.

G. Spickett, A. Cant, M. Abinun, 1996, British journal of rheumatology.

Functional significance ofdystrophin positive fibres inDuchenne muscular dystrophy

D. Gardner‐Medwin, M. AJohnson, 1993 .

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.

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.

HEAD CIRCUMFERENCE AND INTELLECTUAL PERFORMANCE OF PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY

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

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 .

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

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

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 .

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 .

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

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

Two Cases of Cryptococcal Meningitis, one Treated with 5-Fluorocytosine

M. J. Campbell, I. G. Murray, D. Gardner‐Medwin, 1969, British medical journal.

Combined enzyme defect of mitochondrial fatty acid oxidation.

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

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.

Muscle fibrosis and contractures in a pethidine addict.

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

Transmission of Proteus syndrome from father to son?

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

ALLOPURINOL IN DUCHENNE DYSTROPHY

D. Gardner‐Medwin, 1980, The Lancet.

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.

DELETION STATUS AND INTELLECTUAL IMPAIRMENT IN DUCHENNE MUSCULAR DYSTROPHY

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

Adrenergic receptor responses of vascular smooth muscle in Becker dystrophy A muscle blood flow study using the 133Xe clearance method

F. Mechler, F. Mastaglia, D. Gardner‐Medwin, 1980, Journal of the Neurological Sciences.

Patterns of muscle fiber-type disproportion in hypotonic infants.

M. Johnson, Z. Argov, D. Gardner‐Medwin, 1984, Archives of neurology.

Dystrophin analysis in the diagnosis of muscular dystrophy.

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

Severe muscular dystrophy in girls

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

Preferential deletion of exons in Duchenne and Becker muscular dystrophies

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

Multiple chromosome rearrangements in a childhood ependymoma.

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

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

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

Cellular and humoral responses to measles in subacute sclerosing panencephalitis.

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

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

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

Children with genetic muscular disorders.

D. Gardner‐Medwin, 1977, British journal of hospital medicine.

A neurological study of newborn infants

D. Gardner‐Medwin, 1969 .

The syndrome of myosclerosis1

W. Bradley, P. Hudgson, J. Walton, 1973, Journal of neurology, neurosurgery, and psychiatry.

Congenital Livedo Reticularis and Recurrent Stroke‐like Episodes

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

Fibrinolytic activity in venous blood of patients with muscular dystrophy

H. Dewar, D. Gardner‐Medwin, I. Menon, 1971, Neurology.

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.

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

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

Orofaciodigital syndrome type III in two sibs.

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

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.

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

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

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 .

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.

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

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

CSF antigliadin antibodies and the Ramsay Hunt syndrome

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

Vigabatrin monotherapy in resistant neonatal seizures

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

CEREBRAL GIGANTISM?

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

Why Should We Measure Serum Levels of Anticonvulsant Drugs in Epilepsy?

D. Gardner‐Medwin, 1973 .

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.

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

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

The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy

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

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.

Functional significance of dystrophin positive fibres in Duchenne muscular dystrophy.

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

Congenital myotonic dystrophy: fiber type abnormalities in two cases.

M. Johnson, Z. Argov, D. Gardner‐Medwin, 1980, Archives of neurology.

Prevalence and incidence of Becker muscular dystrophy

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

Studies of the carrier state in the Duchenne type of muscular dystrophy. 2. Quantitative electromyography as a method of carrier detection.

D. Gardner‐Medwin, 1968, Journal of neurology, neurosurgery, and psychiatry.

Electrical properties of muscle fibre membranes in man.

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

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.

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 clinical study of chronic childhood spinal muscular atrophy A review of 141 cases

J. Pearn, J. Wilson, D. Gardner‐Medwin, 1978, Journal of the Neurological Sciences.

Severe Segmental Narrowing of the Spinal Cord: an Unusual Finding in Congenital Spastic Paraparesis

V. Ramesh, M. Gibson, I. Colquhoun, 1989, Developmental medicine and child neurology.

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.

INTERVIEWS WITH PARENTS OF BOYS SUFFERING FROM DUCHENNE MUSCULAR DYSTROPHY

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

CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy)

K. Hall, D. Gardner‐Medwin, 2004, Neuroradiology.

Fetal and Neonatal Neurology and Neurosurgery

D. Eichel, D Gardner-Medwin, D. Gardner‐Medwin, 1989 .

Serum creatine kinase and pyruvate kinase activities in normal adolescent females

J. Walton, D. Gardner‐Medwin, R. Pennington, 1982, Journal of the Neurological Sciences.

Co‐dominant Inheritance of Hyperekplexia and Spastic Paraparesis

J. Burn, P. Baxter, S. Connolly, 1996, Developmental medicine and child neurology.

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.

Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome

S. Bhattacharya, A. Clarke, A. Aynsley-Green, 1990, Brain and Development.

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.

Myokymia with impaired muscular relaxation.

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

Management of muscular dystrophy.

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

EARLY DIAGNOSIS OF DUCHENNE MUSCULAR DYSTROPHY

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