J. Martín

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A prospective study of CSF markers in 250 patients with possible Creutzfeldt–Jakob disease

J. Martín, P. Cras, S. Quoilin, 2003, Journal of neurology, neurosurgery, and psychiatry.

The many faces of human prion diseases in Belgium and the world.

J. Martín, S. Quoilin, B. V. Van Everbroeck, 2001, Acta neurologica Belgica.

Tc‐99m HMPAO Tomography Using a Three‐Headed SPECT System Equipped with Lead Fanbeam Collimators

A. Dobbeleir, P. Deyn, R.I.R. Dierckx, 1993, Clinical Nuclear Medicine.

Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

J. Theuns, H. Backhovens, A. Wehnert, 1998, Human molecular genetics.

Distribution of biogenic amines and their catabolites in brains from patients with Alzheimer's disease

Y. Michotte, J. Martín, P. Cras, 1987, Journal of the Neurological Sciences.

Fetal Krabbe leukodystrophy

J. Martín, C. Ceuterick, J. Leroy, 2004, Acta Neuropathologica.

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

M. Vandermeeren, J. Six, J. Martín, 1994, The American journal of pathology.

Origin of the de novo duplication in Charcot-Marie-Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis.

C. van Broeckhoven, J. Martín, E. Nelis, 1993, Human molecular genetics.

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

F. Baas, C. Broeckhoven, J. Martín, 1991, Neuromuscular Disorders.

Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)

J. Martín, A. Lowenthal, M. Vanier, 1984, Journal of the Neurological Sciences.

A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.

C. van Broeckhoven, J. Martín, V. Timmerman, 1999, Archives of neurology.

Mutation analysis of the nerve specific promoter of the peripheral myelin protein 22 gene in CMT1 disease and HNPP.

P. Patel, C. van Broeckhoven, J. Martín, 1998, Journal of medical genetics.

Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.

C. van Broeckhoven, J. Martín, D. Fitzpatrick, 1997, Journal of neurology, neurosurgery, and psychiatry.

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

C. Broeckhoven, J. Martín, B. Dermaut, 2003, Neuromuscular Disorders.

Instability of microsatellites in human gliomas.

J. Martín, E. Dams, P. Willems, 1995, Cancer research.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement

C. Broeckhoven, C. van Broeckhoven, J. Martín, 2004, Neurology.

Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA

C. van Broeckhoven, J. Martín, A. Löfgren, 2000, Journal of medical genetics.

Postmortem MRI of the brain with neuropathological correlation

P. M. Parizel, P. Deyn, P. Parizel, 1995, Neuroradiology.

Genetic and physical characterization of the early-onset Alzheimer's disease AD3 locus on chromosome 14q24.3.

J. Weissenbach, D. Le Paslier, A. Goate, 1995, Human molecular genetics.

Familial periodic paralysis with hypokalaemia. Study of a muscle biopsy in the myopathic stage of the disorder.

J. Martín, D. Amrom, R. Mercelis, 1984, Acta neurologica Belgica.

Prenatal diagnosis of a constitutional interstitial deletion of chromosome 5 (q15q31.1) presenting with features of congenital contractural arachnodactyly.

J. Martín, L. Messiaen, E. Vamos, 1998, American journal of medical genetics.

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

C. Broeckhoven, C. van Broeckhoven, A. Dürr, 2001, Brain : a journal of neurology.

Early‐onset Alzheimer's disease in 2 large Belgian families

C. van Broeckhoven, J. Martín, P. Cras, 1991, Neurology.

Haemodynamically unstable pulmonary embolism in the RIETE Registry: systolic blood pressure or shock index?

J. Martín, R. Otero, M. Monreal, 2007, European Respiratory Journal.

Nerve biopsy: indications and contribution to the diagnosis of peripheral neuropathy. The experience of the Born Bunge Foundation University of Antwerp and University of Liege between 1987 and 1997.

J. Schoenen, J. Martín, M. Deprez, 2000, Acta neurologica Belgica.

Clinical and neuropathological parameters affecting the diagnostic yield of nerve biopsy

J. Martín, L. Gollogly, M. Deprez, 2000, Neuromuscular Disorders.

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

C. Broeckhoven, J. Martín, J. Brucher, 2004, Acta Neuropathologica.

Cerebral amyloid angiopathy is a pathogenic lesion in Alzheimer's disease due to a novel presenilin 1 mutation.

M. Cruts, J. Martín, P. Cras, 2001, Brain : a journal of neurology.

Benign mitochondrial myopathy with deficiency of NADH-CoQ reductase and cytochrome c oxidase.

J. Martín, H. Scholte, C. Ceuterick, 1986, Neuropediatrics.

Niemann-Pick disease type C. Skin biopsies in parents.

J. Martín, M. Foulard, C. Ceuterick, 1986, Neuropediatrics.

Morphological study of skin biopsy specimens: a contribution to the diagnosis of metabolic disorders with involvement of the nervous system.

J. Martín, C. Ceuterick, J. Martín, 1978, Journal of neurology, neurosurgery, and psychiatry.

Niemann-Pick disease (Crocker's group A). Late onset and pigmentary degeneration resembling Hallervorden-Spatz syndrome.

J. Martín, J. Callahan, M. Philippart, 1972, Archives of neurology.

Niemann-Pick disease. Morphologic and biochemical studies in the visceral form with late central nervous system involvement (Crocker's group C).

J. Martín, M. Philippart, J. Menkes, 1969, Archives of neurology.

Laing early-onset distal myopathy in a Belgian family

J. Martín, P. Bergh, F. Lecouvet, 2014, Acta Neurologica Belgica.

Hereditary pressure-sensitive neuropathy

J. Martín, I. Dehaene, J. Debruyne, 1980, Journal of the Neurological Sciences.

Detection of tau proteins in normal and Alzheimer's disease cerebrospinal fluid with a sensitive sandwich enzyme-linked immunosorbent assay.

M. Vandermeeren, M. Mercken, E. Vanmechelen, 1993, Journal of neurochemistry.

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

A. Hofman, C. Broeckhoven, L. Hendriks, 1998 .

Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases.

J. Martín, C. Ceuterick, J. Martín, 1983, Clinical neuropathology.

Guillain‐Barré syndrome with ophthalmoplegia

J. Martín, P. Cras, I. Dehaene, 1986, Neurology.

Intrasellar adenoma and chordoma

J. Martín, A. Neetens, J. Solheid, 1980 .

Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency.

J. Six, J. Martín, G. Guazzi, 1996, Journal of submicroscopic cytology and pathology.

Loss of constitutional heterozygosity in human astrocytomas

J. Martín, P. Willems, P. Selosse, 2005, Acta Neurochirurgica.

ANTECOLLIS IN PARKINSONISM

J. Martín, P. Jorens, G. Parizel, 1989, The Lancet.

Neonatal myotubular myopathy with a probable X-linked inheritance: observations on a new family with a review of the literature

J. Martín, I. Liebaers, L. Meirleir, 2004, Journal of Neurology.

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

S. Seneca, C. van Broeckhoven, J. Martín, 2003, Neurology.

Neuropathology of some hereditary conditions affecting central and peripheral nervous system.

J. Martín, C. Ceuterick, J. Martín, 2002, Acta neurologica Belgica.

Neurogenic scapuloperoneal syndrome in childhood.

J. Demeester, R. Mercelis, J. Martín, 1980, Journal of neurology, neurosurgery, and psychiatry.

Nerve biopsy findings in Niemann-Pick type II (NPC)

J. Martín, A. Hahn, C. Ceuterick, 2004, Acta Neuropathologica.

Patterns of disease activity in multiple sclerosis.

J. Martín, L. Truyen, J. Gheuens, 1990, BMJ.

Detection of β-A4 amyloid and its precursor protein in the muscle of a patient with juvenile neuronal ceroid lipofuscinosis (Spielmeyer-Vogt-Sjögren)

J. Martín, G. Guazzi, A. Malandrini, 1999, Acta Neuropathologica.

Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)

J. Martín, J. Tager, M. Niermeijer, 1981, Clinical genetics.

Muscle carnitine deficiency in old age Case report and therapeutic results

J. Martín, C. Ceuterick, A. Vercruyssen, 1985, Clinical Neurology and Neurosurgery.

Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent.

J. Lupski, C. van Broeckhoven, J. Martín, 1997, Journal of medical genetics.

Transmission and age-at-onset patterns in familial Alzheimer??s disease: evidence for heterogeneity

J. Growdon, M. Rossor, L. Farrer, 1991 .

Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.

C. van Broeckhoven, J. Martín, V. Timmerman, 1990, American journal of human genetics.

γ-Enolase and glial fibrillary acidic protein in nervous system tumors

J. Martín, P. Cras, J. Gheuens, 1988, Acta Neuropathologica.

Gamma-enolase and glial fibrillary acidic protein in nervous system tumors. An immunohistochemical study using specific monoclonal antibodies.

J. Martín, P. Cras, J. Gheuens, 1988, Acta neuropathologica.

Multiple system atrophies. A neuropathological and neurochemical study.

J. Martín, W. Dierick, G. V. Van Dessel, 1974, Journal of the neurological sciences.

Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.

J. Martín, F. Meire, R. Van Coster, 1995, Ophthalmic genetics.

The hereditary familial optic atrophies

J. Martín, A. Neetens, J. Martín, 1986 .

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease.

D. Pollen, A. Roses, R. Sherrington, 1998, Brain Research. Molecular Brain Research.

Retrospective study of Creutzfeldt-Jakob disease in Belgium: neuropathological findings

J. Martín, P. Cras, R. Dom, 2000, Acta Neuropathologica.

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

E. van Marck, B. Oostra, J. Martín, 1999, American journal of medical genetics.

ApoE genotype is a risk factor in nonpresenilin early-onset Alzheimer's disease families.

J. Hardy, M. Rossor, C. van Broeckhoven, 1998, American journal of medical genetics.

I-cell disease

J. Martín, C. Ceuterick, J. Leroy, 1984, Acta Neuropathologica.

Mucolipidosis IV, a sialolipidosis due to ganglioside sialidase deficiency

J. Martín, B. Berra, R. Gatti, 1982, Journal of Inherited Metabolic Disease.

Pompe's disease: An inborn lysosomal disorder with storage of glycogen

J. Martín, F. Hoof, G. Palladini, 1973, Acta Neuropathologica.

Comparative Neuropathology of Subacute Sclerosing Panencephalitis

J. Martín, J. Martín, 1979 .

Menkes kinky-hair disease. A report on its pathology

J. Martín, N. Buyssens, J. Flament-Durand, 1978, Acta Neuropathologica.

Cardiac involvement in juvenile ceroid lipofuscinosis of the Spielmeyer-Vogt-Sjögren type: prospective noninvasive findings in two siblings.

J. Martín, T. Gillebert, P. Michielsen, 1984, European neurology.

Sensitivity and specificity of thallium-201 single-photon emission tomography in the functional detection and differential diagnosis of brain tumours

J. Martín, R. Dierckx, A. Dobbeleir, 1994, European Journal of Nuclear Medicine.

Beta-amyloid precursor protein and early-onset Alzheimer's disease.

C. Broeckhoven, L. Hendriks, J. Martín, 1996, Ciba Foundation symposium.