H. H. J. Jaspar

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

14h-index629citations33works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(14), Metabolism and Genetic Disorders(10), Neurogenetic and Muscular Disorders Research(4), Amino Acid Enzymes and Metabolism(4), Ophthalmology and Eye Disorders(3)

Publications33 total

CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA IN A HEREDO-ATAXIA: NEUROGENIC OR MYOGENIC?
Acta Neurologica Scandinavica·2009· 15 cited
Defects in citric acid cycle and the electron transport chain in progressive poliodystrophy
Acta Neurologica Scandinavica·2009· 31 cited
Ophthalmoplegia-plus, a real nosological entity
Acta Neurologica Scandinavica·2009· 66 cited
Canavan disease: neuromorphological and biochemical analysis of a brain biopsy specimen.
PubMed·1991· 10 cited
Morphological and Biochemical Analysis of a Brain Biopsy in a Case of Idiopathic Lennox‐Gastaut Syndrome
Epilepsia·1988· 7 cited
Anomalies of the Cerebral Cortex in a Case of Epilepsia Partialis Continua
Epilepsia·1988· 10 cited
Morbus Canavan: study of NA-K-ATPase activities, pyruvate oxidation and ketone body oxidation
Clinical Neurology and Neurosurgery·1988
65. Congophilic angiopathy and dementia
Clinical Neurology and Neurosurgery·1987
Agenesis of the Corpus Callosum in a Case of Infantile Spinal Muscular Atrophy
Verhandlungen der Deutschen Gesellschaft für Neurologie·1987
A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy
Annals of Neurology·1986· 10 cited
A case of sporadic juventile amyotrophic lateral sclerosis
Clinical Neurology and Neurosurgery·1985
Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX)
Acta Neuropathologica·1984· 33 cited
A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency
European Journal of Pediatrics·1983· 49 cited
Progressive poliodystrophy (alpers') disease) with a defect in cytochrome in muscle: a report of two unrelated patients
Clinical Neurology and Neurosurgery·1983· 62 cited
Kearns syndrome: A heterogeneous group of disorders with CPEO, or a nosological entity?
Documenta Ophthalmologica·1982· 15 cited
Book Review
Ophthalmologica·1982Open Access
Kearns Syndrome or Kearns Disease
Ophthalmologica·1982· 14 cited
Pyruvate dehydrogenase deficiency restricted to brain
Neurology·1981· 38 cited
Pyruvate dehydrogenase deficiency restricted to brain
Neurology·1981· 50 cited
Connatal Pelizaeus-Merzbacher Disease with congenital stridor in two maternal cousins
Acta Neuropathologica·1981· 41 cited
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Frequent Co-authors

A. M. Stadhouders(13), E.M.G. Joosten(9), F.J.M. Gabreëls(9), J. M. F. Trijbels(8), W.O. Renier(8), L. A. K. Bastiaensen(6), M.J.J. Prick(5), R. C. A. Sengers(5), J.H. Veerkamp(4), H. J. ter Laak(4), K.J.B. Lamers(3), M.W.I.M. Horstink(3), J.J. Korten(3), S. L. H. Notermans(3), F.J.M. Gabreëls(3), A.J.M. Janssen(2), R. le Coultre(2), F. Gabreëls(2), F. Trijbels(2), W. Ruitenbeek(2)