A. Gabreëls-Festen

发表

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

F. Gabreëls, P. Wesseling, H. T. ter Laak, 1996, Brain : a journal of neurology.

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies

F. Baas, M. de Visser, P. Bolhuis, 1996, Annals of neurology.

Dejerine–Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow‐up of 25 patients *

A. Gabreëls-Festen, 2002, Journal of anatomy.

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

D. Stegeman, F. Gabreëls, E. Joosten, 1990, Brain : a journal of neurology.

Phenotype of Charcot–Marie–Tooth disease Type 2

F. Baas, R. D. de Haan, B. V. van Engelen, 2007, Neurology.

Inherited demyelinating peripheral neuropathies: Relating myelin packing abnormalities to P0 molecular defects

D. Kirschner, P. Bolhuis, K. Szumowski, 1996 .

Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation.

E. Mariman, F. Gabreëls, P. Jongen, 1998, Brain : a journal of neurology.

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

M. Zwarts, H. J. Schelhaas, G. Hageman, 2002, Neurology.

Axon damage in CMT due to mutation in myelin protein P0

P. Jonghe, C. Hanemann, A. Gabreëls-Festen, 2001, Neuromuscular Disorders.

Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy?

F. Gabreëls, P. Jongen, H. Vingerhoets, 1993, Acta Neuropathologica.

Major histocompatibility complex class II expression and macrophage responses in genetically proven Charcot–Marie–Tooth type 1 and hereditary neuropathy with liability to pressure palsies

G. Stoll, C. Hanemann, H. Müller, 1998, Muscle & nerve.

Schwann cell differentiation in Charcot-Marie-Tooth disease type 1A (CMT1A): normal number of myelinating Schwann cells in young CMT1A patients and neural cell adhesion molecule expression in onion bulbs

G. Stoll, C. Hanemann, H. Müller, 1997, Acta Neuropathologica.

Mutations in GDAP1

C. van Broeckhoven, F. Palau, V. Timmerman, 2002, Neurology.

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

E. Mariman, F. Gabreëls, B. V. van Engelen, 1999, Journal of neurology, neurosurgery, and psychiatry.

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

F. Gabreëls, L. Valentijn, E. Eshuis, 2004, Acta Neuropathologica.

Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy

C. van Broeckhoven, F. Palau, V. Timmerman, 2002 .

Recurrent neuropathy associated with Ehlers–Danlos syndrome

B. Engelen, G. Drost, B. Hamel, 2006, Journal of Neurology.

Polyglucosan bodies in sural nerve biopsies

F. Gabreëls, W. Renier, M. Hof, 2004, Acta Neuropathologica.

Mononeuropathy multiplex as the initial manifestation of neurofibromatosis type 2

M. Zwarts, M. Zwarts, J. Gijtenbeek, 2001, Neurology.

Human Nerve Pathology Caused by Different Mutational Mechanisms of the PMP22 Gene

A. Gabreëls-Festen, R. A. van de Wetering, 1999, Annals of the New York Academy of Sciences.

Hereditary Demyelinating Motor and Sensory Neuropathy

F. Gabreëls, A. Gabreëls-Festen, A. Gabreëls-Festen, 1993, Brain pathology.

Neuromuscular complications in patients given pavulon/sr (pancuronium bromide) during artificial ventilation

H. Laak, J. Koeman, A. Coul, 1985, Clinical Neurology and Neurosurgery.

Experimentally induced beriberi polyneuropathy in chickens.

S. Notermans, A. Gabreëls-Festen, W. Djoenaidi, 1995, Electromyography and clinical neurophysiology.

Familial inclusion body myositis with histologically confirmed sensorimotor axonal neuropathy

B. V. van Engelen, H. T. ter Laak, G.J.D. Hengstmann, 2000, Journal of Neurology.

CEROID‐LIPOFUSCINOSIS (BATTEN'S DISEASE)

E. Joosten, F. Gabreëls, A. Gabreëls-Festen, 1973, Acta ophthalmologica.

Axilla skin biopsy: A reliable test for the diagnosis of Lafora's disease

D. Rénier, W. Renier, A. Stadhouders, 1987, Annals of neurology.

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

M. Ruberg, A. Brice, N. Birouk, 2006, Neurology.

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

F. Baas, L. Valentijn, M. Visser, 1992, Nature Genetics.

Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1

E. Mariman, F. Gabreëls, H. Ropers, 1993, Human Genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot–Marie–Tooth disease associated with light-near dissociation

F. Baas, C. Langerhorst, J. Koelman, 2002, Neuromuscular Disorders.

Allelic heterogeneity in hereditary motor and sensory neuropathy type la (Charcot‐Marie‐Tooth disease type 1a)

F. Gabreëls, F. Baas, E. Joosten, 1993, Neurology.

Overloaded Endoplasmic Reticulum–Golgi Compartments, a Possible Pathomechanism of Peripheral Neuropathies Caused by Mutations of the Peripheral Myelin Protein PMP22

H. Müller, D. D'urso, R. Prior, 1998, The Journal of Neuroscience.

Comparison of a new pmp22 transgenic mouse line with other mouse models and human patients with CMT1A *

J. Perea, R. King, J. Muddle, 2002, Journal of anatomy.

The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.

F. Gabreëls, E. Joosten, K. Lamers, 1982, Neuropediatrics.

Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies

E. Mariman, F. Gabreëls, F. Baas, 1994, Human Genetics.

Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency.

F. Gabreëls, B. V. van Oost, R. Wevers, 1995, Archives of Neurology.

Source (or Part of the following Source): Type Article Title Late Onset Axonal Charcot-marie-tooth Phenotype Caused by a Novel Myelin Protein Zero Mutation Author(s)

F. Baas, J. Verschuuren, M. de Visser, 2022 .

Congenital muscular dystrophy and severe central nervous system atrophy in two siblings

F. Gabreëls, P. Barth, H. Laak, 2004, Acta Neuropathologica.

Advances in Charcot–Marie–Tooth Disease Research: Cellular Function of CMT-Related Proteins, Transgenic Animal Models, and Pathomechanisms

C. Broeckhoven, K. Willecke, U. Suter, 1997, Neurobiology of Disease.

Differences between hereditary motor and sensory neuropathy type 2 and chronic idiopathic axonal neuropathy. A clinical and electrophysiological study.

H. Franssen, Y. van der Graaf, B. V. van Engelen, 1997, Brain : a journal of neurology.

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A.

C. Hanemann, H. Müller, D. D'urso, 2000, Brain : a journal of neurology.

Peripheral and central myelinopathy in Cockayne's syndrome. Report of 3 siblings.

F. Gabreëls, E. Joosten, H. Thijssen, 1982, Neuropediatrics.

Inherited demyelinating peripheral neuropathies: relating myelin packing abnormalities to P0 molecular defects.

D. Kirschner, P. Bolhuis, K. Szumowski, 1996, Journal of neuroscience research.

Adult polyglucosan body disease: The diagnostic value of axilla skin biopsy

F. Gabreëls, E. Joosten, M. V. van’t Hof, 1991, Annals of neurology.

An atypical case of infantile globoid cell leukodystrophy.

F. Gabreëls, E. Joosten, A. Gabreëls-Festen, 1983, Neuropediatrics.

Human nerve pathology caused by different mutational mechanisms of the PMP22 gene.

R. V. Wetering, A. Gabreëls-Festen, 1999, Annals of the New York Academy of Sciences.

Complex regional pain syndrome type I (RSD)

F. Gabreëls, R. Goris, H. T. ter Laak, 1998, Neurology.

Congenital fibre type disproportion A morphometric study (4 cases)

F. Gabreëls, E. Joosten, R. Sengers, 1981, Clinical Neurology and Neurosurgery.

Congenital fibre type disproportion.

F. Gabreëls, E. Joosten, H. T. ter Laak, 1981, Clinical neurology and neurosurgery.

Hereditary Neuropathy with Liability to Pressure Palsies in Childhood*

F. Gabreëls, E. Joosten, H. Vingerhoets, 1992, Neuropediatrics.

Prevalence of the 1.5‐Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies

F. Gabreëls, F. Baas, H. Ropers, 1994, Annals of neurology.

Regulation and expression of the murine Pmp22 gene

E. Mariman, F. Gabreëls, H. Kremer, 1999, Mammalian Genome.

Abeta fibers mediate cutaneous reflexes during human walking.

J. Duysens, F. Gabreëls, B. M. van Wezel, 2000, Journal of neurophysiology.

A b Fibers Mediate Cutaneous Reflexes During Human Walking

J. Duysens, F. Gabreëls, B. V. Wezel, 2000 .

Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype

N. van Alfen, R. Sinke, P. Praamstra, 2001, Annals of neurology.

Severe Dejerine‐Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

T. Kleefstra, B. V. van Engelen, H. Houlden, 2012, Journal of the peripheral nervous system : JPNS.