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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.590-597

2003

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Neurology, 2002-12, Vol.59 (12), p.1865-1872

2002

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Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

Neurology, 2005-02, Vol.64 (3), p.527-529

2005

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The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

Brain (London, England : 1878), 1999-02, Vol.122 (2), p.281-290

1999

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Patient homozygous for a recessive POLG mutation presents with features of MERRF

Neurology, 2003-12, Vol.61 (12), p.1811-1813

2003

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

Neurology, 1999-06, Vol.52 (9), p.1827-1827

1999

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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation

Acta neuropathologica, 1998-09, Vol.96 (3), p.253-260

1998

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Dense-Core Plaques in Tg2576 and PSAPP Mouse Models of Alzheimer's Disease Are Centered on Vessel Walls

The American journal of pathology, 2005-08, Vol.167 (2), p.527-543

2005

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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Neuromuscular disorders : NMD, 2015-07, Vol.25 (7), p.567-576

2015

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Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

Acta neurologica Belgica, 2018-12, Vol.118 (4), p.607-615

2018

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2093-2102

2006

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On an autosomal dominant form of retinal-cerebellar degeneration : an autopsy study of five patients in one family

Acta neuropathologica, 1994-10, Vol.88 (4), p.277-286

1994

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Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Annals of neurology, 2002-06, Vol.51 (6), p.709-715

2002

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OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

European journal of paediatric neurology, 2015-05, Vol.19, p.S4-S4

2015

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Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family

Journal of neuropathology and experimental neurology, 2006-03, Vol.65 (3), p.289-301

2006

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Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)

Journal of medical genetics, 1992, Vol.29 (1), p.5-11

1992

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Dense-Core Senile Plaques in the Flemish Variant of Alzheimer's Disease Are Vasocentric

The American journal of pathology, 2002-08, Vol.161 (2), p.507-520

2002

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Infantile and juvenile presentations of Alexander's disease: a report of two cases

Acta neurologica Scandinavica, 1999-03, Vol.99 (3), p.158-165

1999

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Neuropathology of some hereditary conditions affecting central and peripheral nervous system

Acta neurologica Belgica, 2002-03, Vol.102 (1), p.30-35

2002

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G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neuromuscular disorders : NMD, 2012-10, Vol.22 (9), p.874-875

2012

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Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders

The American journal of pathology, 1994-07, Vol.145 (1), p.175-188

1994

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P3.36. Phenotypic spectrum in myopathies with tubular aggregates

Neuromuscular disorders : NMD, 2011-10, Vol.21 (9), p.692-693

2011

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Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy

Clinical neuropathology, 1993-03, Vol.12 (2), p.79

1993

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A new combined Bodian-Luxol technique for staining unmyelinated axons in semithin, resin-embedded peripheral nerves : a comparison with electron microscopy

Acta neuropathologica, 1999-10, Vol.98 (4), p.323-329

1999

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Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease

Clinical neuropathology, 1997-09, Vol.16 (5), p.237

1997

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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype

Patient homozygous for a recessive POLG mutation presents with features of MERRF

Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation

Dense-Core Plaques in Tg2576 and PSAPP Mouse Models of Alzheimer's Disease Are Centered on Vessel Walls

Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy

Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

On an autosomal dominant form of retinal-cerebellar degeneration : an autopsy study of five patients in one family

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

OP10 – 2707: Childhood-onset ataxic gait solved by muscle biopsy

Characterization of Ubiquitinated Intraneuronal Inclusions in a Novel Belgian Frontotemporal Lobar Degeneration Family

Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)

Dense-Core Senile Plaques in the Flemish Variant of Alzheimer's Disease Are Vasocentric

Infantile and juvenile presentations of Alexander's disease: a report of two cases

Neuropathology of some hereditary conditions affecting central and peripheral nervous system

G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Microtubule-associated protein tau epitopes are present in fiber lesions in diverse muscle disorders

P3.36. Phenotypic spectrum in myopathies with tubular aggregates

Hyaline bodies in skeletal muscle of a patient with a mild chronic nonprogressive congenital myopathy

A new combined Bodian-Luxol technique for staining unmyelinated axons in semithin, resin-embedded peripheral nerves : a comparison with electron microscopy

Discordant light microscopic, electron microscopic, and in vitro contracture study findings in a family with central core disease

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