J. Turpin

发表

Apolipoprotein E-epsilon 4 allele doses in late-onset Alzheimer's disease.

P. Landais, G. Lucotte, J. Turpin, 1994, Annals of neurology.

Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.

S. Panserat, R. Krishnamoorthy, G. Lucotte, 1996, American journal of medical genetics.

Variable number tandem repeat dopamine transporter gene polymorphism and Parkinson’s disease: no association found

G. Lucotte, J. Turpin, G. Mercier, 1999, Journal of Neurology.

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

N. Baumann, F. Sedel, J. Saudubray, 2007, Journal of Inherited Metabolic Disease.

Adult sphingomyelinase deficiency

J. Hauw, M. Auclair, J. Mazière, 1990, Neurology.

A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

B. Lechevalier, M. Benson, S. Zeldenrust, 1993, Journal of medical genetics.

Mutations in mice affecting brain development and their correlations with human diseases

N. Baumann, F. Lachapelle, J. Turpin, 1982 .

Late-onset metachromatic leukodystrophy

H. Moser, A. Moser, N. Baumann, 2006, Neurology.

DNA analysis of distinct populations suggests multiple origins for the mutation causing Huntington disease

M. Hayden, M. Anvret, S. Andrew, 1993, Clinical genetics.

Juvenile‐onset spinal muscular atrophy caused by compound heterozygosity for mutations in the HEXA gene

J. Melki, N. Baumann, R. Khosravi, 1997, Annals of neurology.

Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?

N. Baumann, B. Colsch, J. Turpin, 2002, Journal of Physiology-Paris.

Analysis of the major lipid classes in human peripheral nerve biopsies Age group differences and abnormalities of ganglioside level in perhexiline maleate therapy

J. Hauw, N. Baumann, R. Escourolle, 1979, Journal of the Neurological Sciences.

P-Nitrocatechol sulfate for arylsulfatase assay: detection of metachromatic leukodystrophy variants.

N. Baumann, J. Turpin, G. Dubois, 1976, Advances in experimental medicine and biology.

Ganglioside content and pattern in tumor tissue of human neuroblastomas.

N. Baumann, M. Harpin, J. Turpin, 1981, Biomedicine / [publiee pour l'A.A.I.C.I.G.].

Letter: Absence of ASA activity in healthy father of a patient with metachromatic leukodystrophy.

N. Baumann, J. Turpin, G. Dubois, 1975, The New England journal of medicine.

Clinical aspects of Niemann-Pick type C disease in the adult.

N. Baumann, M. Masson, J. Turpin, 1991, Developmental neuroscience.

Adult forms of metachromatic leukodystrophy: clinical and biochemical approach.

N. Baumann, N. Herschkowitz, M. Masson, 1991, Developmental neuroscience.

Adult-onset leukodystrophies

N. Baumann, J. Turpin, 2000, Journal of Neurology.

A New Mutation in the HEXA Gene Associated With a Spinal Muscular Atrophy Phenotype

N. Baumann, B. Eymard, R. Khosravi, 1995, Neurology.

Jejunal Motility in Dystrophia Myotonica: a Manometric Study of Migrating Motor Complex

D. Couturier, S. Grandjouan, J. Guerre, 1984 .

[Neurologic manifestations of rheumatoid purpura].

J. Turpin, B. Demontis, G. Malpuechi, 1973, Pediatrie.

Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls.

N. Baumann, J. Turpin, M. Georges, 1980, Biomedicine / [publiee pour l'A.A.I.C.I.G.].

Improved synthesis of [1-14C]acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: usefulness of radioscanning.

N. Baumann, A. Fluharty, M. Masson, 1991, Clinica chimica acta; international journal of clinical chemistry.

Allele doses of apolipoprotein E type epsilon 4 in sporadic late-onset Alzheimer's disease.

P. Landais, G. Lucotte, J. Turpin, 1995, American journal of medical genetics.

Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects.

N. Baumann, B. Colsch, J. Tabet, 2008, Biochimica et biophysica acta.

[Adult disclosure of a case of familial adrenoleukodystrophy].

N. Baumann, M. Pluot, C. Séréni, 1985, Revue neurologique.

Familial adrenoleukodystrophy: long chain fatty acid levels and analysis with a factor VIII DNA probe

G. Lucotte, J. Turpin, S. Berriche, 1988, Journal of Neurology.

Neurochemistry of Stress. An Overview

N. Baumann, J. Turpin, 2010, Neurochemical Research.

[Angio-scintigraphy in neurological lesions of vascular origin].

J. Turpin, J. Fruhling, J. Noterman, 1972, Acta neurochirurgica.

[Neurological presentations of lysosomal diseases in adult patients].

N. Baumann, F. Sedel, J. Turpin, 2007, Revue neurologique.

A recombinant Friedreich's ataxia family

G. Lucotte, J. Turpin, S. Berriche, 1993, Human Genetics.

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

N. Baumann, K. von Figura, V. Gieselmann, 1993, American journal of human genetics.

Apolipoprotein E‐ε4 allele doses in late‐onset Alzheimer's disease

P. Landais, G. Lucotte, J. Turpin, 1994 .

Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form.

N. Baumann, R. Escourolle, J. Turpin, 1975, Archives of neurology.

Arylsulfatase a activity among psychotic patients

N. Baumann, M. Lejoyeux, J. Turpin, 1989, Psychiatry Research.

Arylsulfatases isoenzymes in metachromatic leucodystrophy/detection of a new variant by electrophoresis improvement of quantitative assay.

N. Baumann, J. Turpin, G. Dubois, 1975, Biomedicine / [publiee pour l'A.A.I.C.I.G.].

[Presenting psychiatric and cognitive disorders in adult neurolipidoses].

N. Baumann, J. Turpin, 2003, Revue neurologique.

Confidence intervals for predicted age of onset, given the size of (CAG)n repeat, in Huntington's disease

S. Hazout, F. Loirat, J. Epplen, 1995, Human Genetics.

[Rheumatoid purpura and neurologic manifestations].

J. Turpin, G. De Montis, 1971, Annales de medecine interne.

Trinucleotide repeat elongation in the huntingtin gene in Huntington's disease patients from 85 French families. The French HD Research Group.

O. Loreille, G. Lucotte, J. Turpin, 1994, Genetic counseling.