J. Martin

发表

P213-Concurrence of inflammatory bowel disease and multiple sclerosis in general population: frequency, phenotypes and clinical course

E. Urcelay, C. Taxonera, M. Gómez‐García, 2009 .

Rare Maternally Inherited Coding Variants on Chromosome X Carry Predominantly Male Risk in Autism, Tourette Syndrome, and Attention-deficit/Hyperactivity Disorder

M. Owen, Jinchuan Xing, M. State, 2022, medRxiv.

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His

S. Engelborghs, R. Vandenberghe, M. Cruts, 2009, Neurology.

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families

C. Broeckhoven, H. Backhovens, A. Wehnert, 1987, Nature.

Peripheral myelin protein‐22 expression in charcot‐marie‐tooth disease type 1a sural nerve biopsies

C. van Broeckhoven, J. Martín, G. Stoll, 1994, Journal of neuroscience research.

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

A. Hofman, C. Broeckhoven, C. van Broeckhoven, 1998, Acta Neuropathologica.

Genetic variability in progranulin contributes to risk for clinically diagnosed Alzheimer disease

K. Sleegers, S. Engelborghs, S. Maurer-Stroh, 2008, Neurology.

The peripheral myelin protein gene PMP–22 is contained within the Charcot–Marie–Tooth disease type 1A duplication

P. De Jonghe, K. Fischbeck, B. Cullen, 1992, Nature Genetics.

De-novo mutation in hereditary motor and sensory neuropathy type I

F. Baas, C. Broeckhoven, L. Valentijn, 1992, The Lancet.

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

J. Martín, L. Leval, M. Deprez, 1999, Acta neurologica Scandinavica.

The C9orf72 repeat size correlates with onset age of disease, DNA methylation and transcriptional downregulation of the promoter

C. Broeckhoven, C. van Broeckhoven, S. Engelborghs, 2015, Molecular Psychiatry.

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

J. Weissenbach, Y. Agid, C. Broeckhoven, 1995, Nature Genetics.

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

I. Rainero, J. L. Haines, J. A. Hardy, 1990, Nature.

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

J. Lupski, C. Boerkoel, L. Potocki, 2003, Brain : a journal of neurology.

The role of cytokines, astrocytes, microglia and apoptosis in Creutzfeldt-Jakob disease

P. Cras, U. Lübke, P. Pals, 2002, Neurobiology of Aging.