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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Neurology, 2012-05, Vol.78 (19), p.1512

2012

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Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Neurogenetics, 2013-02, Vol.14 (1), p.23-34

2013

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Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Journal of medical genetics, 2006-06, Vol.43 (6), p.490-495

2006

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Cerebellar leukoencephalopathy: most likely histiocytosis-related

Neurology, 2008-10, Vol.71 (17), p.1361

2008

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Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Bone marrow transplantation (Basingstoke), 2007-03, Vol.39 (5), p.309-310

2007

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Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood

Brain (London, England : 1878), 2004-08, Vol.127 (8), p.1774-1784

2004

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Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

Neuromuscular disorders : NMD, 2010-12, Vol.20 (12), p.775-782

2010

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Immunoglobulins in children with epilepsy: the Dutch Study of Epilepsy in Childhood

Clinical and experimental immunology, 2003-04, Vol.132 (1), p.144-151

2003

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Nonsymptomatic Generalized Epilepsy in Children Younger than Six Years: Excellent Prognosis, but Classification Should Be Reconsidered after Follow‐up: The Dutch Study of Epilepsy in Childhood

Epilepsia (Copenhagen), 2002-07, Vol.43 (7), p.734-739

2002

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Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

Neuromuscular disorders : NMD, 2008-06, Vol.18 (6), p.447-452

2008

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The Diagnostic Yield of a Second EEG After Partial Sleep Deprivation: A Prospective Study in Children with Newly Diagnosed Seizures

Epilepsia (Copenhagen), 1997-05, Vol.38 (5), p.595-599

1997

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

Annals of neurology, 1995-03, Vol.37 (3), p.324-334

1995

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Absence epilepsy and periventricular nodular heterotopia

Seizure (London, England), 2010-09, Vol.19 (7), p.450-452

2010

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Seizure Severity in Children with Epilepsy: A Parent‐Completed Scale Compared with Clinical Data

Epilepsia (Copenhagen), 1997-03, Vol.38 (3), p.346-352

1997

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Histology of hereditary neuralgic amyotrophy

Journal of neurology, neurosurgery and psychiatry, 2005-03, Vol.76 (3), p.445-447

2005

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Four-year outcome after early withdrawal of antiepileptic drugs in childhood epilepsy

Neurology, 2005-06, Vol.64 (12), p.2136

2005

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The accuracy of the diagnosis of paroxysmal events in children

Neurology, 2003-03, Vol.60 (6), p.979

2003

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Clinical and genetic heterogeneity in benign hereditary chorea

Neurology, 2002-08, Vol.59 (4), p.579

2002

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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood

Journal of neurology, neurosurgery and psychiatry, 2004-02, Vol.75 (2), p.241-245

2004

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Clinical course of untreated tonic-clonic seizures in childhood: Prospective, hospital based study

BMJ. British medical journal (International ed.), 1997-02, Vol.314 (7078), p.401

International edition, 1997

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X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

Annals of neurology, 1993-05, Vol.33 (5), p.535-539

1993

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The Early Prognosis of Epilepsy in Childhood: The Prediction of a Poor Outcome. The Dutch Study of Epilepsy in Childhood

Epilepsia (Copenhagen), 1999-06, Vol.40 (6), p.726-734

1999

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Follow‐Up of 146 Children with Epilepsy after Withdrawal of Antiepileptic Therapy

Epilepsia (Copenhagen), 1988-05, Vol.29 (3), p.244-250

1988

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Acquired dysarthria in childhood: an analysis of dysarthric features in relation to neurologic deficits

Neurology, 1987-02, Vol.37 (2), p.296

1987

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Evolution of Epilepsy and EEG Findings in Angelman Syndrome

Epilepsia (Copenhagen), 1997-02, Vol.38 (2), p.195-199

1997

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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly

Cerebellar leukoencephalopathy: most likely histiocytosis-related

Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

Course and prognosis of childhood epilepsy: 5-year follow-up of the Dutch study of epilepsy in childhood

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

Immunoglobulins in children with epilepsy: the Dutch Study of Epilepsy in Childhood

Nonsymptomatic Generalized Epilepsy in Children Younger than Six Years: Excellent Prognosis, but Classification Should Be Reconsidered after Follow‐up: The Dutch Study of Epilepsy in Childhood

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

The Diagnostic Yield of a Second EEG After Partial Sleep Deprivation: A Prospective Study in Children with Newly Diagnosed Seizures

Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

Absence epilepsy and periventricular nodular heterotopia

Seizure Severity in Children with Epilepsy: A Parent‐Completed Scale Compared with Clinical Data

Histology of hereditary neuralgic amyotrophy

Four-year outcome after early withdrawal of antiepileptic drugs in childhood epilepsy

The accuracy of the diagnosis of paroxysmal events in children

Clinical and genetic heterogeneity in benign hereditary chorea

Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood

Clinical course of untreated tonic-clonic seizures in childhood: Prospective, hospital based study

X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course

The Early Prognosis of Epilepsy in Childhood: The Prediction of a Poor Outcome. The Dutch Study of Epilepsy in Childhood

Follow‐Up of 146 Children with Epilepsy after Withdrawal of Antiepileptic Therapy

Acquired dysarthria in childhood: an analysis of dysarthric features in relation to neurologic deficits

Evolution of Epilepsy and EEG Findings in Angelman Syndrome

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