Pieter A. Bolhuis

Neuroscience · Life Sciences

33h-index5.0kcitations75works0.02yr avg
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Research Topics

Hereditary Neurological Disorders(24), Neurological diseases and metabolism(14), Mitochondrial Function and Pathology(12), Genetic Neurodegenerative Diseases(11), Neurogenetic and Muscular Disorders Research(7)

Publications75 total

[Importance of pharmacogenetics].
PubMed·2001· 3 cited
X Chromosome Inactivation in Carriers of Barth Syndrome
The American Journal of Human Genetics·1998· 76 citedOpen Access
Reply to Hofmann et al.
The American Journal of Human Genetics·1998· 7 citedOpen Access
The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies
The American Journal of Human Genetics·1997· 232 citedOpen Access
Machado-Joseph disease presenting as severe asymmetric proximal neuropathy
Journal of Neurology Neurosurgery & Psychiatry·1997· 34 citedOpen Access
Bethlem myopathy, a type VI collagen disorder
Neuromuscular Disorders·1997
Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1.
Journal of Neurology Neurosurgery & Psychiatry·1997· 36 citedOpen Access
Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
Human Genetics·1997· 58 citedOpen Access
Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms
Neurobiology of Disease·1997· 21 citedOpen Access
Inherited demyelinating peripheral neuropathies: Relating myelin packing abnormalities to P0 molecular defects
Journal of Neuroscience Research·1996· 31 cited
Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
Annals of Neurology·1996· 28 cited
Two divergent types of nerve pathology in patients with different P sub 0 mutations in Charcot-Marie-Tooth disease
Neurology·1996· 149 cited
Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis
Journal of the Neurological Sciences·1996· 12 cited
No evidence for ‘skewed’ inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
Human Genetics·1996· 39 cited
A novel X-linked gene, G4.5. is responsible for Barth syndrome
Nature Genetics·1996· 748 cited
No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
Human Genetics·1996· 4 cited
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): Respiratory‐chain abnormalities in cultured fibroblasts
Journal of Inherited Metabolic Disease·1996· 99 citedOpen Access
Molecular investigation of bethlem myopathy
Neuromuscular Disorders·1996
Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations
Acta Neuropathologica·1995· 122 cited
Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects
Journal of the Neurological Sciences·1995· 5 citedOpen Access
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Frequent Co-authors

Frank Baas(18), Jessica E. Hoogendijk(15), Linda J. Valentijn(11), Marianne de Visser(10), Gerard W. Hensels(10), Ina Zorn(6), P. G. Barth(6), A.A.W.M. Gabreëls‐Festen(6), Emiel A. M. Janssen(5), F.J.M. Gabreëls(5), Nico J. Ponne(5), Christine Van Broeckhoven(4), Ruud A. Wolterman(4), Edwin C.M. Mariman(4), Coby Van den Bogert(4), B.W. Ongerboer de Visser(4), Patrizia D’Adamo(3), Ági K. Gedeon(3), Daniela Toniolo(3), Eva Nelis(3)