Frans A. Hol

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index2.4kcitations49works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(19), Metabolism and Genetic Disorders(11), ATP Synthase and ATPases Research(10), RNA modifications and cancer(8), Folate and B Vitamins Research(6)

Publications49 total

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1.
PubMed·2010· 49 cited
Genotype-phenotype correlations with <i>TGM1</i>: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis
British Journal of Dermatology·2009· 29 cited
A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
BMJ Case Reports·2009· 21 citedOpen Access
[Sudden blindness: consider Leber's hereditary optic neuropathy].
PubMed·2008· 1 cited
Genotype-phenotype correlations in MYCN-related Feingold syndrome
Human Mutation·2008· 76 cited
Muscle 3243A→G mutation load and capacity of the mitochondrial energy‐generating system
Annals of Neurology·2008· 29 cited
26 A novel mitochondrial ATP 8 (MT-ATP8) gene mutation in a patient with neuropathy and cardiomyopathy
Mitochondrion·2007· 1 cited
Chronic progressive external ophthalmoplegia caused by an m.4267A &gt; G mutation in the mitochondrial tRNAIle
Journal of Neurology·2007· 6 cited
A novel mitochondrial <i>ATP8</i> gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
Journal of Medical Genetics·2007· 116 citedOpen Access
Confirmation of dyslexia susceptibility loci on chromosomes 1p and 2p, but not 6p in a Dutch sib‐pair collection
American Journal of Medical Genetics Part B Neuropsychiatric Genetics·2007· 36 cited
Mutations in the cyclic adenosine monophosphate response element of the tyrosine hydroxylase gene
Annals of Neurology·2007· 36 cited
Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf–Hirschhorn syndrome
European Journal of Human Genetics·2007· 110 citedOpen Access
Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing <i>SOX3</i>
Journal of Medical Genetics·2007· 102 citedOpen Access
Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation
European Journal of Paediatric Neurology·2007· 17 cited
Mitochondrial disease criteria
Neurology·2006· 273 cited
The mitochondrial 13513G&gt;A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff–Parkinson–White
European Journal of Human Genetics·2006· 64 citedOpen Access
Hyperimmunoglobulinaemia D syndrome in India: report of two siblings with a novel mutation
Annals of the Rheumatic Diseases·2006· 9 citedOpen Access
Early cardiac involvement in children carrying the A3243G mtDNA mutation
Mitochondrion·2006
Mitochondrial dysfunction in Stüve–Wiedemann syndrome in a patient carrying an <i>ND1</i> gene mutation
American Journal of Medical Genetics Part A·2006· 9 cited
Sequence Analysis of the Structural Nuclear Encoded Subunits and Assembly Genes of Cytochrome c Oxidase in a Cohort of 10 Isolated Complex IV—Deficient Patients Revealed Five Mutations
Journal of Child Neurology·2006· 21 cited
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Frequent Co-authors

Edwin C.M. Mariman(15), Jan Smeıtınk(14), Ben C.J. Hamel(13), Richard J. Rodenburg(12), M.P.A. Geurds(10), Éva Morava(8), A.J.M. Janssen(6), Lambertus P. van den Heuvel(5), Marloes H. Siers(5), Marije Hogeveen(4), Leo Nijtmans(4), Barbara Franke(4), Frans J.M. Trijbels(3), An I. Jonckheere(3), Carolien G. F. de Kovel(3), Sylvia E. C. van Beersum(3), Baziel G.M. van Engelen(3), Frans C.A. van den Brandt(2), Tom Hofste(2), Livia Kapusta(2)