P. A. Bolhuis

Independent Researcher

Publications

2,948

Citations

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Data combined from OpenAlex . OA = OpenAlex S2 = Semantic Scholar

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Publication & Citation Trends

Most Cited Works

Human blood platelet adhesion to artery subendothelium is mediated by factor VIII–Von Willebrand factor bound to the subendothelium

Kjell S. Sakaríassen, P. A. Bolhuis, J J Sixma

Nature 1979

650

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. OA

David A. Mackey, Roelof‐Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, J Brontë-Stewart +5 more

eCite Digital Repository (University of Tasmania) 1996

342

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. OA

Daniëlle de Vries, L.N. Went, G.W. Bruyn, H.R. Scholte, Robert M.W. Hofstra +2 more

PubMed 1996

192

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. OA

Anneke J. van der Kooi, M. van Meegen, T. M. Ledderhof, Elizabeth M. McNally, Marianne de Visser +1 more

PubMed 1997

135

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. OA

Marjolijn J. L. Ligtenberg, Stephan Kemp, Claude‐Olivier Sarde, Björn M. van Geel, W. J. Kleijer +4 more

PubMed 1995

130

Publications

77 total

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy PDF

Neil Howell, Roelof‐Jan Oostra, P. A. Bolhuis, Liesbeth Spruijt, L. Clarke et al. - The American Journal of Human Genetics, 2003

Cited by 108 OpenAlex

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

H.B. Ginjaar, Anneke J. van der Kooi, H. Ceelie, Alexander L.J. Kneppers, M. van Meegen et al. - Journal of Neurology, 2000

Cited by 56 OpenAlex

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

W.H.J.P. Linssen, Marjolein Visser, Nicolette C. Notermans, J.P Vreyling, Pieter A. van Doorn et al. - Neuromuscular Disorders, 1998

Cited by 58 OpenAlex

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. OA

Anneke J. van der Kooi, M. van Meegen, T. M. Ledderhof, Elizabeth M. McNally, Marianne de Visser et al. - PubMed, 1997

Cited by 135 OpenAlex

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. OA

David A. Mackey, Roelof‐Jan Oostra, Thomas Rosenberg, Eeva Nikoskelainen, J Brontë-Stewart et al. - eCite Digital Repository (University of Tasmania), 1996

Cited by 342 OpenAlex

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. OA

Daniëlle de Vries, L.N. Went, G.W. Bruyn, H.R. Scholte, Robert M.W. Hofstra et al. - PubMed, 1996

Cited by 192 OpenAlex

The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands PDF

Anneke J. van der Kooi, P. G. Barth, H. F. M. Busch, Rob de Haan, H.B. Ginjaar et al. - Brain, 1996

Cited by 97 OpenAlex

Genetic localization of Bethlem myopathy

G. Joost Jöbsis, P. A. Bolhuis, J.M. Boers, Frank Baas, Ruud A. Wolterman et al. - Neurology, 1996

Cited by 44 OpenAlex

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. PDF

Marjolijn J. L. Ligtenberg, Stephan Kemp, Claude‐Olivier Sarde, Björn M. van Geel, W. J. Kleijer et al. - PubMed, 1995

Cited by 130 OpenAlex

Concentrations of amyloid β protein in cerebrospinal fluid of patients with alzheimer's disease

Willem A. van Gool, G.J.M. Walstra, P. A. Bolhuis, Michaël Kuiper, E.Ch. Wolters - Annals of Neurology, 1995

Cited by 84 OpenAlex

Research Topics

Metabolism and Genetic Disorders (23) Mitochondrial Function and Pathology (20) ATP Synthase and ATPases Research (10) Platelet Disorders and Treatments (9) Genetic Neurodegenerative Diseases (9)

Frequent Co-Authors

P. G. Barth

4 joint publications

Roelof‐Jan Oostra

3 joint publications

Anneke J. van der Kooi

3 joint publications

Marianne de Visser

3 joint publications

John H. J. Wokke

3 joint publications

J J Sixma

2 joint publications

Affiliations

Radboud University Nijmegen

NL 1994 - 1994

Inserm

FR 1994 - 1994

Utrecht University

NL 1980 - 1980

Academic Medical Center

NL 2000 - 1987

The Health Council of the Netherlands

NL 2005 - 2003

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P. A. Bolhuis

Publication & Citation Trends

Most Cited Works

Publications

Sequence Analysis of the Mitochondrial Genomes from Dutch Pedigrees with Leber Hereditary Optic Neuropathy PDF

Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. OA

Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. OA

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. OA

The clinical spectrum of limb girdle muscular dystrophy A survey in the Netherlands PDF

Genetic localization of Bethlem myopathy

Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein. PDF

Concentrations of amyloid β protein in cerebrospinal fluid of patients with alzheimer's disease

Research Topics

Frequent Co-Authors

Affiliations

External Profiles

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