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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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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

Neuromuscular disorders : NMD, 2003-02, Vol.13 (2), p.133-142

2003

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Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

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

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

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

2003

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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Clinical infectious diseases, 2006-04, Vol.42 (8), p.1111-1117

2006

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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

1999

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Neuropathies héréditaires sensibles à la pression: étude de six familles espagnoles

Revue neurologique, 2002, Vol.158 (5), p.579-588

2002

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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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P245 ROUX-EN-Y GASTRIC BYPASS ATTENUATES HEPATIC MITOCHONDRIAL DYSFUNCTION IN MICE WITH NONALCOHOLIC STEATOHEPATITIS

Journal of hepatology, 2014-04, Vol.60 (1), p.S147-S147

2014

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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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Glycogénose type IV variante congénitale : A propos d'une observation anatomo-clinique

Annales de pathologie, 1996-12, Vol.16 (6), p.449-452

1996

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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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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Neurology, 2011-12, Vol.77 (24), p.2105

2011

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Fabry disease in a patient with Turner syndrome

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.45-48

2009

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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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Synaptopodin and 4 novel genes identified in primary sensory neurons

Molecular and cellular neuroscience, 2005-11, Vol.30 (3), p.316-325

2005

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A novel mitochondrial transfer RNA proline mutation

Journal of inherited metabolic disease, 2000-12, Vol.23 (8), p.853-854

2000

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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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Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

American journal of human genetics, 2003-10, Vol.73 (4), p.926-932

2003

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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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A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

Neuromuscular disorders : NMD, 2001-05, Vol.11 (4), p.400-403

2001

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

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia

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

Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

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

Neuropathies héréditaires sensibles à la pression: étude de six familles espagnoles

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

P245 ROUX-EN-Y GASTRIC BYPASS ATTENUATES HEPATIC MITOCHONDRIAL DYSFUNCTION IN MICE WITH NONALCOHOLIC STEATOHEPATITIS

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

Glycogénose type IV variante congénitale : A propos d'une observation anatomo-clinique

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

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Fabry disease in a patient with Turner syndrome

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

Synaptopodin and 4 novel genes identified in primary sensory neurons

A novel mitochondrial transfer RNA proline mutation

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

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

A novel 3′-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

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