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Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes

Archives of disease in childhood, 2005-12, Vol.90 (12), p.1283-1287

2005

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Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

Annals of neurology, 2000-10, Vol.48 (4), p.647-656

2000

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Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

American journal of medical genetics. Part A, 2008-01, Vol.146A (2), p.182-190

2008

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Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

Neuropediatrics, 2004-02, Vol.35 (1), p.10-19

2004

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A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Brain (London, England : 1878), 1999-05, Vol.122 (5), p.817-825

1999

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Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Journal of medical genetics, 2003-03, Vol.40 (3), p.183-187

2003

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Cerebral palsy after maternal trauma in pregnancy

Developmental medicine and child neurology, 2007-09, Vol.49 (9), p.700-706

2007

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Gratification disorder (“infantile masturbation”): a review

Archives of disease in childhood, 2004-03, Vol.89 (3), p.225-226

2004

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Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

American journal of human genetics, 2000-07, Vol.67 (1), p.213-221

2000

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Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures

Heart (British Cardiac Society), 1999-12, Vol.82 (6), p.721-725

1999

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Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux

Archives of disease in childhood, 1998-10, Vol.79 (4), p.363-364

1998

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Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

Human molecular genetics, 1998-02, Vol.7 (2), p.291-297

1998

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SEIZURES AND INTELLECTUAL DISABILITY ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE WEST OF SCOTLAND

Developmental medicine and child neurology, 1992-09, Vol.34 (9), p.766-774

1992

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A novel pattern of oculocerebral malformation

British journal of ophthalmology, 1997-06, Vol.81 (6), p.470-475

1997

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Cataplexy in the Prader–Willi syndrome

Archives of disease in childhood, 2002-08, Vol.87 (2), p.170-170

2002

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The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)

Journal of medical genetics, 1995-11, Vol.32 (11), p.881-884

1995

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A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification

Eye (London), 1988-01, Vol.2 (3), p.297-303

1988

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Bile acid analyses in “pseudo‐Zellweger” syndrome; clues to the defect in peroxisomal β‐oxidation

Journal of inherited metabolic disease, 1988-01, Vol.11 (S2), p.165-168

1988

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A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β‐oxidation enzyme activities

Journal of inherited metabolic disease, 1990, Vol.13 (3), p.375-379

1990

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Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

Journal of medical genetics, 1994-01, Vol.31 (1), p.41-44

1994

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Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry

Human genetics, 1986-06, Vol.73 (2), p.175-180

1986

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Genetic aspects of tuberous sclerosis in the west of Scotland

Journal of medical genetics, 1989-01, Vol.26 (1), p.28-31

1989

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Anoxic-epileptic seizures in childhood

Developmental medicine and child neurology, 2004-01, Vol.46, p.31

2004

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The changing clinical pattern of Reye's syndrome 1982-1990

Archives of disease in childhood, 1996-05, Vol.74 (5), p.400-405

1996

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"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome

Journal of medical genetics, 1998-02, Vol.35 (2), p.94-98

1998

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Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

Cerebral palsy after maternal trauma in pregnancy

Gratification disorder (“infantile masturbation”): a review

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21

Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures

Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux

Mutations in the Palmitoyl-Protein Thioesterase Gene (PPT; CLN1) Causing Juvenile Neuronal Ceroid Lipofuscinosis with Granular Osmiophilic Deposits

SEIZURES AND INTELLECTUAL DISABILITY ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE WEST OF SCOTLAND

A novel pattern of oculocerebral malformation

Cataplexy in the Prader–Willi syndrome

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)

A familial syndrome with coats' reaction retinal angiomas, hair and nail defects and intracranial calcification

Bile acid analyses in “pseudo‐Zellweger” syndrome; clues to the defect in peroxisomal β‐oxidation

A bifunctional protein with deficient enzymic activity: Identification of a new peroxisomal disorder using novel methods to measure the peroxisomal β‐oxidation enzyme activities

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues

Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry

Genetic aspects of tuberous sclerosis in the west of Scotland

Anoxic-epileptic seizures in childhood

The changing clinical pattern of Reye's syndrome 1982-1990

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome

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