Jan C. Pronk

University of Amsterdam — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

35h-index6.0kcitations94works0.02yr avg
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Research Topics

DNA Repair Mechanisms(18), RNA regulation and disease(18), Glycosylation and Glycoproteins Research(14), Helicobacter pylori-related gastroenterology studies(12), RNA and protein synthesis mechanisms(8)

Publications93 total

Fanconi Anaemia in Europe
2015
Development of diastolic heart failure in a 6-year follow-up study in patients after acute myocarditis
Heart·2010· 78 citedOpen Access
Physiological characterisation of S. cerevisiae cells expressing the B. subtilis alanine dehydrogenase gene
Journal of Biotechnology·2010
INV29 Mitochondrial aspartyl-tRNA synthetase deficiency causes “Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation”
European Journal of Paediatric Neurology·2007
MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet
Acta Neuropathologica·2007· 61 citedOpen Access
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Nature Genetics·2007· 450 cited
Vanishing white matter disease: A review with focus on its genetics
Mental Retardation and Developmental Disabilities Research Reviews·2006· 90 cited
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis ofMLC1
Human Mutation·2006· 69 cited
Polymorphisms in the eIF2B genes as risk factor for the development of Multiple Sclerosis in general and more in particular for heat sensitivity in Multiple Sclerosis
2005
Regulation of protein synthesis in lymphoblasts from vanishing white matter patients
Neurobiology of Disease·2005· 53 citedOpen Access
Vacuolating megalencephalic leukoencephalopathy: 24 year follow-up of two siblings.
PubMed·2005· 36 cited
MLC1: A Novel Protein in Distal Astroglial Processes
Journal of Neuropathology & Experimental Neurology·2005· 108 cited
Genome-Wide Linkage in a Large Dutch Consanguineous Family Maps a Locus for Intracranial Aneurysms to Chromosome 2p13
Stroke·2004· 51 cited
Arg113His mutation in eIF2Bε as cause of leukoencephalopathy in adults
Neurology·2004· 69 cited
Multiparametric MRI in a patient with adult-onset leukoencephalopathy with vanishing white matter
Neurology·2004· 21 cited
Leukoencephalopathy with vanishing white matter:
Neurology·2003· 38 cited
eIF2B-Related Disorders: Antenatal Onset and Involvement of Multiple Organs
The American Journal of Human Genetics·2003· 169 citedOpen Access
Anticipation in familial intracranial aneurysms in consecutive generations
European Journal of Human Genetics·2003· 12 citedOpen Access
Leukoencephalopathy With Vanishing White Matter: From Magnetic Resonance Imaging Pattern to Five Genes
Journal of Child Neurology·2003· 42 cited
Association of WKL1/MLC1 with catatonic schizophrenia
Molecular Psychiatry·2002· 9 citedOpen Access
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Frequent Co-authors

Marjo S. van der Knaap(16), Carola G.M. van Berkel(13), Rune R. Frants(12), Christopher G. Mathew(12), Aldur W. Eriksson(12), Anna Savoia(11), Hans Joenje(11), Fré Arwert(10), David F. Callen(8), Peter A. J. Leegwater(8), Gert C. Scheper(7), Gerard Pals(7), Manuel Buchwald(6), Quinten Waisfisz(6), Neil V. Morgan(6), Arleen D. Auerbach(6), Martin A. Rooimans(5), Lucine Bosnoyan-Collins(5), Noa Alon(5), Cees B.M. Oudejans(5)