Jean Louis Mandel

Author PubWeight™ 11.53‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein. Neuron 2003 2.92
2 The evolutionary origin of peroxisomes: an ER-peroxisome connection. Mol Biol Evol 2006 1.39
3 Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy. Hum Mol Genet 2004 1.23
4 Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy. Hum Mol Genet 2002 1.21
5 Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest 2010 1.21
6 Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage. Hum Mol Genet 2005 1.06
7 Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy. Hum Mol Genet 2010 1.03
8 FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch Neurol 2005 0.89
9 Difficulties of genetic counseling and prenatal diagnosis in a consanguineous couple segregating for the same translocation (14;15) (q11;q13) and at risk for Prader-Willi and Angelman syndromes. Eur J Hum Genet 2004 0.81