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Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

Neurology, 2002-11, Vol.59 (9), p.1402-1405

2002

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MRI as diagnostic tool in early-onset peroxisomal disorders

Neurology, 2012-04, Vol.78 (17), p.1304-1308

2012

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A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain

Neurology, 2007-09, Vol.69 (13), p.1342-1349

2007

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Nature genetics, 2005-12, Vol.37 (12), p.1312-1314

2005

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Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

Neuropediatrics, 2015-04, Vol.46 (2), p.98-103

2015

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Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Journal of inherited metabolic disease, 2007-02, Vol.30 (1), p.96-99

2007

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Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Neurology. Genetics, 2018-12, Vol.4 (6), p.e288-e288

2018

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Epilepsy and inborn errors of metabolism in children

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.609-617

2009

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De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Human mutation, 2003-06, Vol.21 (6), p.615-621

2003

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Mental retardation and inborn errors of metabolism

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.597-608

2009

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Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

Brain (London, England : 1878), 2005-04, Vol.128 (4), p.743-751

2005

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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

Neurology, 2005-04, Vol.64 (8), p.1461-1464

2005

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P.004 Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis

Canadian journal of neurological sciences, 2016-06, Vol.43 (S2), p.S22-S22

2016

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Inborn errors of metabolism and motor disturbances in children

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.618-629

2009

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Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

Neuropediatrics, 2012-06, Vol.43 (3), p.168-171

2012

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Epilepsy in inborn errors of metabolism

Epileptic disorders, 2005-06, Vol.7 (2), p.67-81

2005

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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Canadian journal of neurological sciences, 2019-06, Vol.46 (s1), p.S34-S34

2019

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Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers

Neuropediatrics, 2013-08, Vol.44 (4), p.213-217

2013

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Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

Neurology, 2010-01, Vol.74 (4), p.302-305

2010

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Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain

The Journal of biological chemistry, 2003-11, Vol.278 (48), p.47388-47393

2003

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Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy

Neuropediatrics, 2007-04, Vol.38 (2), p.64-70

2007

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Syndactyly, tremor, and hypomyelination associated with oculodentodigital dysplasia

Neuropediatrics, 2011, Vol.42 (S 01)

2011

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Diffuse Cortical Necrosis in a Neonate with Incontinentia Pigmenti and an Encephalitis-Like Presentation

American Journal of Neuroradiology, 2005-06, Vol.26 (6), p.1580-1582

2005

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Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

Neurology, 2004-05, Vol.62 (9), p.1503-1508

2004

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Optimized Spectrophotometric Assay for the Completely Activated Pyruvate Dehydrogenase Complex in Fibroblasts

Clinical chemistry (Baltimore, Md.), 2005-01, Vol.51 (1), p.151-160

2005

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Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

MRI as diagnostic tool in early-onset peroxisomal disorders

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy

Epilepsy and inborn errors of metabolism in children

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

Mental retardation and inborn errors of metabolism

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus–Merzbacher disease

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

P.004 Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis

Inborn errors of metabolism and motor disturbances in children

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

Epilepsy in inborn errors of metabolism

P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

Methylmalonic Acid, a Biochemical Hallmark of Methylmalonic Acidurias but No Inhibitor of Mitochondrial Respiratory Chain

Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy

Syndactyly, tremor, and hypomyelination associated with oculodentodigital dysplasia

Diffuse Cortical Necrosis in a Neonate with Incontinentia Pigmenti and an Encephalitis-Like Presentation

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

Optimized Spectrophotometric Assay for the Completely Activated Pyruvate Dehydrogenase Complex in Fibroblasts

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