Mandel, Jean-Louis

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 2,786

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., & Mandel, J. L. (1991) · Science

Genetics and Neurodevelopmental DisordersEpigenetics and DNA Methylation

Cited by 1,499

Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

Mosser, J., Douar, A.-M., Sarde, C.-O., Kioschis, P., Feil, R., Moser, H., Poustka, A.-M., Mandel, J.-L., & Aubourg, P. (1993) · Nature

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 1,202

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 1,071

Fragile X syndrome

Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 838

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., & Dahl, N. (1996) · Nature Genetics

Muscle Physiology and DisordersProtein Tyrosine Phosphatases

Cited by 639

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 543

The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

Schaeffer, C., Bardoni, B., Mandel, J., Ehresmann, B., Ehresmann, C., & Moine, H. (2001) · The EMBO Journal

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 471

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., et al. (2007) · Nature Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 434

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics

Genetic Neurodegenerative DiseasesGenetics and Neurodevelopmental Disorders

Cited by 429

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

Nolin, S. L., Brown, W. T., Glicksman, A., Houck, Jr., Gargano, A. D., Sullivan, A., Biancalana, V., Bröndum-Nielsen, K., Hjalgrim, H., Holinski-Feder, E., et al. (2003) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

Cited by 421

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

Schenck, A., Bardoni, B., Moro, A., Bagni, C., & Mandel, J.-L. (2001) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

Cited by 356

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

Schenck, A., Bardoni, B., Langmann, C., Harden, N., Mandel, J.-L., & Giangrande, A. (2003) · Neuron

Genetics and Neurodevelopmental DisordersNeurobiology and Insect Physiology Research

Cited by 316

The gene responsible for adrenoleukodystrophy encodes a peroxisomal membrane protein

Mosser, J., Lutz, Y., Stoeckel, M. E., Sarde, C. O., Kretz, C., Douar, A. M., Lopez, J., Aubourg, P., & Mandel, J. L. (1994) · Human Molecular Genetics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 281

G-quadruplex RNA structure as a signal for neurite mRNA targeting

Subramanian, M., Rage, F., Tabet, R., Flatter, E., Mandel, J., & Moine, H. (2011) · The EMBO Reports

RNA Research and SplicingDNA and Nucleic Acid Chemistry

Cited by 250

A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.

Lombard-Platet, G., Savary, S., Sarde, C. O., Mandel, J. L., & Chimini, G. (1996) · Proceedings of the National Academy of Sciences

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 222

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy

Pujol, A., Ferrer, I., Camps, C., Metzger, E., Hindelang, C., Callizot, N., Ruiz, M., Pàmpols, T., Giròs, M., & Mandel, J. L. (2004) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 201

Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms

Sittler, A., Devys, D., Weber, C., & Mandel, J.-L. (1996) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 198

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., & Dollfus, H. (2009) · Proceedings of the National Academy of Sciences

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 178

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts

Castets, M., Schaeffer, C., Bechara, E., Schenck, A., Khandjian, E. W., Luche, S., Moine, H., Rabilloud, T., Mandel, J.-L., & Bardoni, B. (2005) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 162

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, L. M., Redin, C., Drunat, S., Piton, A., Lyons, M., Passemard, S., Baumann, C., Faivre, L., Thevenon, J., Rivière, J.-B., et al. (2015) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenetics and Neurodevelopmental Disorders

Cited by 105

Retroviral-mediated gene transfer corrects very-long-chain fatty acid metabolism in adrenoleukodystrophy fibroblasts.

Cartier, N., Lopez, J., Moullier, P., Rocchiccioli, F., Rolland, M. O., Jorge, P., Mosser, J., Mandel, J. L., Bougnères, P. F., & Danos, O. (1995) · Proceedings of the National Academy of Sciences

Virus-based gene therapy researchMetabolism and Genetic Disorders

Cited by 105

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

Vincent, M. C., Biancalana, V., Ginisty, D., Mandel, J. L., & Calvas, P. (2001) · European Journal of Human Genetics

dental development and anomaliesGenetic and rare skin diseases.

Cited by 105

Mutational analysis of patients with X-linked adrenoleukodystrophy

Kok, F., Neumann, S., Sarde, C.-O., Zheng, S., Wu, K.-H., Wei, H.-M., Bergin, J., Watkins, P. A., Gould, S., Sack, G., et al. (1995) · Human Mutation

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 103