J. Martin

发表

Decreased Levels of Amyloid-beta 1-42 in Cerebrospinal Fluid of Creutzfeldt-Jakob Disease Patients.

P. Cras, A. Green, B. V. Van Everbroeck, 1999, Journal of Alzheimer's disease : JAD.

Correlating Quantitative MR Imaging with Histopathology in X-Linked Adrenoleukodystrophy

F. Barkhof, D. Troost, P. Pouwels, 2011, American Journal of Neuroradiology.

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.

Molecular Diagnostic Testing in Charcot‐Marie‐Tooth Disease and Related Disorders: Approaches and Results

C. van Broeckhoven, V. Timmerman, E. Nelis, 1999, Annals of the New York Academy of Sciences.

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.

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

J. Lupski, C. van Broeckhoven, V. Timmerman, 1999, Neurology.

A retrospective study of Creutzfeldt–Jakob disease in Belgium

W. Robberecht, P. Cras, R. Dom, 1999, European Journal of Epidemiology.

Distal Hereditary Motor Neuropathy Type II (Distal HMN Type II): Phenotype and Molecular Genetics

C. van Broeckhoven, J. Beuten, V. Timmerman, 1999, Annals of the New York Academy of Sciences.

Becker-type muscular dystrophy Report of a family with one postmortem study

C. Broeckhoven, C. Ceuterick, U. Lübke, 1992, Clinical Neurology and Neurosurgery.

Autosomal dominant adult neuronal ceroid lipofuscinosis: Parkinsonism due to both striatal and nigral dysfunction

P. Nijssen, E. Brusse, R. Roos, 2002, Movement disorders : official journal of the Movement Disorder Society.

Evidence for Allelic Heterogeneity in Familial Early-Onset Alzheimer's Disease

A. Hofman, M. Rossor, A. Goate, 1991, British Journal of Psychiatry.

Molecular Genetics of Familial Alzheimer’s Disease

C. Broeckhoven, J. Martin, 1992 .

Detection of cytokines in human sural nerve biopsies: an immunohistochemical and molecular study

P. Delvenne, M. Deprez, S. Debrus, 2001, Acta Neuropathologica.

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

B. Dubois, W. Robberecht, H. Goebel, 2005, Neurology.

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Hanns Lochmüller, V. Timmerman, A. Suls, 2011, Neurology.

Electron microscopic features of skin in neurometabolic disorders

C. Ceuterick, J. Martin, 1992, Journal of the Neurological Sciences.

Transmission and age‐at‐onset patterns in familial Alzheimer's disease

J. Growdon, P. S. St George-Hyslop, M. Rossor, 1990, Neurology.

Absence of genetic linkage of Charcot‐Marie‐Tooth disease (HMSN Ia) with chromosome 1 gene markers

C. van Broeckhoven, H. Backhovens, A. Wehnert, 1989, Neurology.

Carbohydrate‐deficient glycoprotein syndrome with previously unreported features

F. Eyskens, J. Jaeken, J. Jaeken, 1994, Acta paediatrica.

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.

Unusual presentation and clinical variability in Belgian pedigrees with progressive external ophthalmoplegia and multiple deletions of mitochondrial DNA

C. Broeckhoven, I. Dehaene, C. Broeckhoven, 1997 .

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

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

Linkage and mutation analysis of Charcot‐Marie‐Tooth neuropathy type 2 families with chromosomes 1p35‐p36 and Xq13

C. van Broeckhoven, V. Timmerman, E. Nelis, 1996, Neurology.

Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy

C. Broeckhoven, A. Michalik, J. Martin, 2004, European Journal of Human Genetics.

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

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

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.

Biochemical Diagnosis of an Hereditary Aminolaevulinate Dehydratase Deflciency in a 63-Year-Old Man

R. Mercelis, J. Martin, A. Hassoun, 1989, Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie.

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

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

Genetic Linkage Analysis in Early-Onset Familial Alzheimer’s Dementia

C. Broeckhoven, H. Backhovens, A. Wehnert, 1990 .

Alzheimer’s Disease and Hemorrhagic Stroke: Their Relationship to βA4 Amyloid Deposition

C. Broeckhoven, L. Hendriks, P. Cras, 1995 .

Effects of the oral form of ondansetron on cerebellar dysfunction

M. Manto, J. C. Bier, J. Hildebrand, 2003, Journal of Neurology.

Phosphorylated tau in cerebrospinal fluid as a marker for Creutzfeldt–Jakob disease

H. Vanderstichele, E. Vanmechelen, P. Cras, 2002, Journal of neurology, neurosurgery, and psychiatry.

Infantile presentation of the mitochondrial A8344G mutation

S. Seneca, L. de Meirleir, W. Lissens, 2007, European Journal of Neurology.

Immunohistochemical analysis of the oxidative phosphorylation complexes in skeletal muscle from patients with mitochondrial DNA encoded tRNA gene defects

S. Seneca, L. de Meirleir, W. Lissens, 2009, Journal of Clinical Pathology.

Classical Friedreich’s Ataxia and Its Genotype

C. van Broeckhoven, K. Storm, F. Palau, 1999, European Neurology.

Hyperargininemia: a treatable inborn error of metabolism?

R. C. Green, A. Beaudet, E. Hirsch, 1997 .

Hyperorgininemia: a treatable inborn error of metabolism

Roth, A. Beaudet, S. Cederbaum, 1997 .

SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I

J. Martín, K. Verhoeven, V. Timmerman, 2004, Neurology.

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

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Brain : a journal of neurology.

A novel 7301-bp deletion in mitochondrial DNA in a patient with Kearns-Sayre syndrome, diabetes mellitus, and primary amenorrhoea.

J. Maassen, C. D. De Block, I. D. De Leeuw, 2004, Experimental and clinical endocrinology & diabetes.

18q-Syndrome with coeliac disease

P. Coucke, J. Martin, J. Wauters, 1999, European Journal of Pediatrics.

Autosomal recessive inheritance of polymicrogyria and dermatomyositis with paracrystalline inclusions.

J. D. Reuck, C. Ceuterick, J. Martin, 1990, Clinical neuropathology.