N. Abbas

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Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.

Y. Agid, A. Brice, N. Birouk, 1996, American journal of human genetics.

The gene for autosomal dominant cerebellar ataxia type II is located in a 5-cM region in 3p12-p13: genetic and physical mapping of the SCA7 locus.

J. Weissenbach, Y. Agid, A. Brice, 1996, American journal of human genetics.

Molecular and clinical correlations in spinocerebellar ataxia 2: a study of 32 families.

Y. Agid, G. Yvert, T. Klockgether, 1997, Human molecular genetics.

A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development.

I. Herskowitz, E. Vilain, M. Fellous, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon.

Y. Agid, A. Dürr, A. Brice, 1997, American journal of human genetics.

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

Y. Agid, A. Durr, A. Dürr, 1995, American journal of human genetics.

Increased Expression and Redistribution of the Antiapoptotic Molecule Bcl-xL in Parkinson's Disease

E. Hirsch, M. Vila, A. Hartmann, 2002, Neurobiology of Disease.

A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.

J. Lupski, S. di Donato, M. Pandolfo, 1995, American journal of human genetics.

A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2?

Y. Agid, A. Brice, R. Gouider, 1996, Human molecular genetics.

A I .5-Mb Deletion in 17p I 1.2-p 1 2 Is Frequently Observed in Italian Families with Hereditary Neuropathy with Liability to Pressure Palsies

J. Lupski, M. Pandolfo, D. Pareyson, 2007 .

Y chromosome DNA polymorphisms in human populations: differences between Caucasoids and Africans detected by 49a and 49f probes

G. Sirugo, R. Scozzari, O. Semino, 1990, Annals of human genetics.

A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.

Y. Agid, R. Marconi, B. Oostra, 1999, Human molecular genetics.

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

E. Vilain, M. Fellous, K. Kucheria, 1992, Proceedings of the National Academy of Sciences of the United States of America.

A possible common origin of “Y-negative” human XX males and XX true hermaphrodites

M. Toublanc, M. Fellous, N. Affara, 1990, Human Genetics.

Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA‐sequences

M. Toublanc, E. Vilain, M. Fellous, 1994, Clinical endocrinology.

Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation

M. Toublanc, E. Vilain, M. Fellous, 2005, European Journal of Pediatrics.

Genetic evidence that ZFY is not the testis-determining factor

A. Sinclair, M. Palmer, P. Goodfellow, 1989, Nature.

Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.

E. Vilain, M. Fellous, K. McElreavey, 1993, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

R. Berger, E. Vilain, M. Fellous, 1992, Human Genetics.

The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability.

E. Vilain, M. Fellous, K. McElreavey, 1992, Hormone research.

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

Yves Agid, Jean-Louis Mandel, Gaël Yvert, 1996, Nature Genetics.

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.

J. Lupski, P. Patel, M. Lensch, 1994, Human molecular genetics.

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Y. Agid, M. Ruberg, G. Yvert, 1997, Nature Genetics.

Spinocerebellar ataxia 3 and machado‐joseph disease: Clinical, molecular, and neuropathological features

Alexandra Durr, Charles Duyckaerts, Yves Agid, 1996, Annals of neurology.

Spinocerebellar ataxia type 7 (SCA7)

M. Ruberg, C. Duyckaerts, A. Durr, 2020, Analysis of Triplet Repeat Disorders.

Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.

J. Weissenbach, Y. Agid, R. Sherrington, 1996, Human molecular genetics.

Molecular and clinical correlations in autosomal dominant cerebellar ataxia with progressive macular dystrophy (SCA7).

Y. Agid, A. Dürr, A. Brice, 1998, Human molecular genetics.

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus.

H. Cann, Y. Agid, C. Duyckaerts, 1995, American journal of human genetics.

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

E. Hirsch, M. Ruberg, A. Brice, 2003, Human molecular genetics.

A 45,X male with molecular evidence of a translocation of Y euchromatin onto chromosome 1

O. Triolo, B. Dallapiccola, G. Novelli, 1990, Human Genetics.

Parkin gene inactivation alters behaviour and dopamine neurotransmission in the mouse.

Santiago Canals, S. Canals, A. Brice, 2003, Human molecular genetics.

Somatic mosaicism of the CAG repeat expansion in spinocerebellar ataxia type 3/Machado‐Joseph disease

E. Hirsch, Y. Agid, A. Brice, 1998, Human mutation.

The C289G and C418R missense mutations cause rapid sequestration of human Parkin into insoluble aggregates

M. Ruberg, C. Duyckaerts, A. Brice, 2003, Neurobiology of Disease.

Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias.

Y. Agid, A. Durr, T. Klockgether, 1996, Human molecular genetics.

Gender equality in Machado–Joseph disease

Y. Agid, A. Dürr, A. Brice, 1995, Nature Genetics.

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

Y. Agid, A. Dürr, A. Brice, 1995, Journal of medical genetics.

Cloning of Rat Parkin cDNA and Distribution of Parkin in Rat Brain

A. Parent, E. Hirsch, Y. Agid, 2000, Journal of neurochemistry.