PubRank

Judith Melki

Author PubWeight™ 57.00‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009 4.38
2 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Lancet Neurol 2010 3.61
3 Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capability. FASEB J 2003 2.80
4 Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model. Hum Mol Genet 2002 2.13
5 Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc Natl Acad Sci U S A 2009 2.03
6 A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet 2006 1.51
7 The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev 2002 1.38
8 Intact satellite cells lead to remarkable protection against Smn gene defect in differentiated skeletal muscle. J Cell Biol 2003 1.29
9 Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet 2009 1.28
10 Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat 2012 1.25
11 Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol 2004 1.24
12 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2014 1.24
13 Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3. Brain 2006 1.22
14 A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet 2008 1.19
15 Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus. Hum Mol Genet 2003 1.18
16 Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. Am J Hum Genet 2008 1.18
17 Inter- and intrastrain variation in mouse critical running speed. J Appl Physiol (1985) 2004 1.17
18 Oxidative stress in skeletal muscle causes severe disturbance of exercise activity without muscle atrophy. Free Radic Biol Med 2010 1.15
19 Refined characterization of the expression and stability of the SMN gene products. Am J Pathol 2007 1.14
20 Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am J Hum Genet 2012 1.11
21 Spinal muscular atrophy. Semin Pediatr Neurol 2002 1.07
22 Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet 2013 1.06
23 New role for serum response factor in postnatal skeletal muscle growth and regeneration via the interleukin 4 and insulin-like growth factor 1 pathways. Mol Cell Biol 2006 1.06
24 Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1. Neurobiol Aging 2012 1.02
25 Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice. Dis Model Mech 2012 1.01
26 Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy. Hum Mol Genet 2003 1.00
27 A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.98
28 YB-1 promotes microtubule assembly in vitro through interaction with tubulin and microtubules. BMC Biochem 2008 0.97
29 Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN. Physiol Genomics 2005 0.96
30 Spinal muscular atrophy: recent advances and future prospects. Muscle Nerve 2002 0.96
31 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012 0.95
32 Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): a potential susceptibility factor for adult-onset lower motor neuron disease. J Neurol 2002 0.93
33 Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. Muscle Nerve 2003 0.93
34 A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy. Eur J Hum Genet 2007 0.92
35 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis. Hum Mol Genet 2012 0.90
36 Germline and somatic genetic variations of TNFAIP3 in lymphoma complicating primary Sjogren's syndrome. Blood 2013 0.90
37 Amniotic fluid stem cells restore the muscle cell niche in a HSA-Cre, Smn(F7/F7) mouse model. Stem Cells 2012 0.87
38 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis. Ann Neurol 2014 0.83
39 Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophy. Stem Cells 2006 0.82
40 Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. J Clin Invest 2015 0.80
41 No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis. Hum Mol Genet 2013 0.80
42 Solving the puzzle of spinal muscular atrophy: what are the missing pieces? Am J Med Genet A 2013 0.78
43 103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands. Neuromuscul Disord 2003 0.78
44 Spinal muscular atrophy. Adv Exp Med Biol 2009 0.77
45 90th ENMC international workshop: European Spinal Muscular Atrophy Randomised Trial (EuroSMART) 9-10 February 2001, Naarden, The Netherlands. Neuromuscul Disord 2002 0.77
46 Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet 2009 0.76
47 Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosis. Neurobiol Aging 2010 0.76
48 Spinal muscular atrophies. Handb Clin Neurol 2013 0.75
49 [Neuropathies and small heat shock proteins]. Med Sci (Paris) 2004 0.75