A.A.W.M. Gabreëls‐Festen

Radboud University Nijmegen — Netherlands

Neuroscience · Life Sciences

31h-index2.7kcitations65works0.02yr avg
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Research Topics

Hereditary Neurological Disorders(36), Neurological diseases and metabolism(18), Neurogenetic and Muscular Disorders Research(10), Genetic Neurodegenerative Diseases(7), Lysosomal Storage Disorders Research(6)

Publications65 total

Phenotype of Charcot–Marie–Tooth disease Type 2
Neurology·2007· 61 cited
P.P.7 11 Recurrent neuropathy associated with Ehlers-Danlos syndrome
Neuromuscular Disorders·2006· 1 cited
Spine deformities in Charcot-Marie-Tooth 4C caused by <i>SH3TC2</i> gene mutations
Neurology·2006· 104 cited
Macrophage clustering as a diagnostic marker in sural nerve biopsies of patients with CIDP
Neurology·2005· 128 cited
Recurrent neuropathy associated with Ehlers–Danlos syndrome
Journal of Neurology·2005· 37 cited
Sensorineural Hearing Impairment in Patients with Pmp22 Duplication, Deletion, and Frameshift Mutations
Otology & Neurotology·2005· 31 cited
Nerve biopsy findings in 10 families with CMT 4C
RWTH Publications (RWTH Aachen)·2005
Transient cerebral white matter lesions in a patient with connexin 32 missense mutation
Neurology·2002· 64 cited
Mutations in <i>GDAP1</i>
Neurology·2002· 156 cited
Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene
Neuromuscular Disorders·2002· 27 cited
Erratum to “Axon damage in CMT due to mutation in myelin protein P0” [Neuromusc. Disord. 11 (2001) 753–756]
Neuromuscular Disorders·2002
Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A*
Journal of Anatomy·2002· 92 citedOpen Access
Axon damage in CMT due to mutation in myelin protein P0
Neuromuscular Disorders·2001· 33 cited
Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2
Neurology·2001· 33 cited
Familial inclusion body myositis with histologically confirmed sensorimotor axonal neuropathy
Journal of Neurology·2000· 14 cited
Cerebrotendinous xanthomatosis
Neuromuscular Disorders·2000· 41 cited
Aβ Fibers Mediate Cutaneous Reflexes During Human Walking
Journal of Neurophysiology·2000· 50 cited
The natural history of hereditary neuralgic amyotrophy in the Dutch population.
Data Archiving and Networked Services (DANS)·2000· 4 cited
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
Journal of Neurology Neurosurgery & Psychiatry·1999· 85 citedOpen Access
Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.
PubMed·1998· 117 cited
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Frequent Co-authors

F.J.M. Gabreëls(26), E.M.G. Joosten(18), Baziel G.M. van Engelen(9), Pieter A. Bolhuis(6), H. J. ter Laak(5), Frank Baas(5), F.G.I. Jennekens(5), Edwin C.M. Mariman(5), Vincent Timmerman(4), Martin Lammens(4), F. Gabreëls(4), Dick F. Stegeman(4), H. ter Laak(4), Jessica E. Hoogendijk(3), Linda J. Valentijn(3), Marianne de Visser(3), Christine Van Broeckhoven(3), Peter De Jonghe(3), Sylvia E. C. van Beersum(3), Annemieke Vos(3)