Mandel, Jean-Louis

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M.-L., Anderson, V., Bitoun, P., et al. (2017) · Nature Genetics

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 101

Mirror expression of adrenoleukodystrophy and adrenoleukodystrophy related genes in mouse tissues and human cell lines

Troffer-Charlier, N., Doerflinger, N., Metzger, E., Fouquet, F., Mandel, J.-L., & Aubourg, P. (1998) · European Journal of Cell Biology

Metabolism and Genetic DisordersDrug Transport and Resistance Mechanisms

Cited by 85

Insulin stimulates myogenesis in a rat myoblast line

MANDEL, J.-L., & PEARSON, M. L. (1974) · Nature

Muscle Physiology and DisordersMetabolism, Diabetes, and Cancer

Cited by 84

Genomic organization of the adrenoleukodystrophy gene

Sarde, C.-O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A., & Mandel, J.-L. (1994) · Genomics

Metabolism and Genetic DisordersHereditary Neurological Disorders

Cited by 82

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity

Schenck, A., Qurashi, A., Carrera, P., Bardoni, B., Diebold, C., Schejter, E., Mandel, J.-L., & Giangrande, A. (2004) · Developmental Biology

Axon Guidance and Neuronal SignalingNeurobiology and Insect Physiology Research

Cited by 76

Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: A possible hot spot for mutations

Kemp, S., Ligtenberg, M. J. L., Vangeel, B. M., Barth, P. G., Wolterman, R. A., Schoute, F., Sarde, C. O., Mandel, J. L., Vanoost, B. A., & Bolhuis, P. A. (1994) · Biochemical and Biophysical Research Communications

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 75

X-linked adrenoleukodystrophy

AUBOURG, P., & MANDEL, J. (1996) · Annals of the New York Academy of Sciences

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 58

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)

Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., & Gal, A. (1994) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 57

Abnormal messenger RNA expression and a missense mutation in patients with X-linked adrenoleukodystrophy

Cartier, N., Sarde, C.-O., Douar, A.-M., Mosser, J., Mandel, J.-L., & Aubourg, P. (1993) · Human Molecular Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 55

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 47

ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy

Kemp, S., Mooyer, P. A. W., Bolhuis, P. A., van Geel, B. M., Mandel, J. L., Barth, P. G., Aubourg, P., & Wanders, R. J. A. (1996) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 37

A new human gene (DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene

Mosser, J., Sarde, C.-O., Vicaire, S., Yates, J. R. W., & Mandel, J.-L. (1994) · Genomics

Muscle Physiology and DisordersGenetics and Neurodevelopmental Disorders

Cited by 27