PubRank

Jean-Louis Mandel

Author PubWeight™ 79.72‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 2002 2.98
2 Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 2003 2.71
3 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet 2006 2.68
4 Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet 2011 2.61
5 Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007 2.48
6 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet 2006 2.44
7 XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013 2.10
8 ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet 2008 2.04
9 Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet 2003 2.00
10 The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice. Proc Natl Acad Sci U S A 2002 1.91
11 Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet 2004 1.85
12 T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase. Proc Natl Acad Sci U S A 2009 1.83
13 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet 2012 1.79
14 Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients. Hum Mol Genet 2010 1.61
15 FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts. Hum Mol Genet 2005 1.60
16 Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells. J Biol Chem 2003 1.58
17 Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes. Curr Opin Genet Dev 2002 1.57
18 G-quadruplex RNA structure as a signal for neurite mRNA targeting. EMBO Rep 2011 1.46
19 AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis. Hum Mol Genet 2008 1.44
20 Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype. Hum Genet 2002 1.41
21 Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies. Acta Neuropathol 2010 1.34
22 Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 2002 1.33
23 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A 2009 1.33
24 A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 2006 1.33
25 The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer. Nucleic Acids Res 2008 1.32
26 Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient. J Mol Biol 2007 1.31
27 The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles. J Cell Sci 2002 1.29
28 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet 2005 1.28
29 WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity. Dev Biol 2004 1.26
30 SPG11 spastic paraplegia. A new cause of juvenile parkinsonism. J Neurol 2009 1.25
31 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012 1.25
32 Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing. Diabetes Care 2013 1.18
33 Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly. Mol Biol Cell 2008 1.17
34 Functional redundancy in the myotubularin family. Biochem Biophys Res Commun 2002 1.15
35 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 2013 1.14
36 Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness. Am J Pathol 2011 1.13
37 Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program. Hum Mol Genet 2006 1.05
38 Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in France. Am J Med Genet A 2004 1.04
39 Next generation sequencing for molecular diagnosis of neuromuscular diseases. Acta Neuropathol 2012 1.03
40 Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation. Neuromuscul Disord 2007 1.02
41 Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates. Eur J Pediatr 2007 1.01
42 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Hum Mol Genet 2003 0.99
43 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 2006 0.98
44 Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. Neuromuscul Disord 2009 0.97
45 Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. Eur J Hum Genet 2012 0.95
46 BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet 2005 0.93
47 Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model. J Neurosci 2004 0.93
48 ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. Am J Med Genet A 2011 0.92
49 Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways. FASEB J 2013 0.87
50 Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10. Hum Mol Genet 2013 0.86
51 Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice. Hum Mol Genet 2002 0.86
52 SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases. Hum Mutat 2010 0.85
53 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. Eur J Med Genet 2010 0.85
54 NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes. Exp Cell Res 2003 0.84
55 Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice. J Biol Chem 2004 0.82
56 Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. Eur J Hum Genet 2006 0.82
57 [Bardet-Biedl syndrome: a unique family for a major gene (BBS10)]. Med Sci (Paris) 2006 0.79
58 [Mutations in amphiphysin 2 (BIN1) cause autosomal recessive centronuclear myopathy]. Med Sci (Paris) 2007 0.77
59 Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy. Am J Med Genet A 2005 0.75
60 [23andMed: Geneticist Jean-Louis Mandel's personal experience]. Rev Med Suisse 2015 0.75