PubRank

Christel Depienne

Author PubWeight™ 44.99‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The phenotypic spectrum of SCN8A encephalopathy. Neurology 2015 2.12
2 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 2007 1.76
3 Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 2012 1.71
4 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. Hum Mutat 2009 1.57
5 De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome. Am J Hum Genet 2013 1.40
6 Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia. J Med Genet 2006 1.37
7 Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 2012 1.34
8 Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol 2010 1.33
9 PRRT2 mutations cause hemiplegic migraine. Neurology 2012 1.30
10 REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction. Hum Mutat 2011 1.26
11 Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons. J Neurosci 2007 1.18
12 Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 2009 1.16
13 GABA(A) receptor gamma 2 subunit mutations linked to human epileptic syndromes differentially affect phasic and tonic inhibition. J Neurosci 2007 1.11
14 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011 1.09
15 Congenital mirror movements: a clue to understanding bimanual motor control. J Neurol 2011 1.08
16 RAD51 deficiency disrupts the corticospinal lateralization of motor control. Brain 2013 1.06
17 Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 2016 1.02
18 PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population. Neurology 2012 0.99
19 Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene. Ophthalmology 2010 0.99
20 NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics 2007 0.99
21 A novel locus for generalized epilepsy with febrile seizures plus in French families. Arch Neurol 2008 0.97
22 Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord 2012 0.97
23 Two novel epilepsy-linked mutations leading to a loss of function of LGI1. Arch Neurol 2007 0.92
24 Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability. J Med Genet 2012 0.91
25 Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy. Epilepsy Res 2007 0.90
26 Genetic association signal near NTN4 in Tourette syndrome. Ann Neurol 2014 0.87
27 Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: analysis of suppression-subtracted cDNA libraries and confirmation in vitro. Exp Neurol 2005 0.87
28 Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. Neurogenetics 2009 0.86
29 Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description. Am J Med Genet B Neuropsychiatr Genet 2007 0.86
30 Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism. J Mol Med (Berl) 2011 0.85
31 SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Eur J Med Genet 2013 0.85
32 Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. Neurobiol Dis 2007 0.82
33 Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes. Neurogenetics 2007 0.82
34 A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP. Neurogenetics 2007 0.82
35 Mental deficiency in three families with SPG4 spastic paraplegia. Eur J Hum Genet 2007 0.80
36 Familial form of typical childhood absence epilepsy in a consanguineous context. Epilepsia 2010 0.80
37 An unexpected EEG course in Dravet syndrome. Epilepsy Res 2008 0.78
38 Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements. Am J Med Genet A 2005 0.77
39 Protocadherin 19 mutations in girls with infantile-onset epilepsy. Neurology 2011 0.76
40 A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes. Neurogenetics 2012 0.76
41 Congenital mirror movements: no mutation in DNAL4 in 17 index cases. J Neurol 2014 0.76
42 A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007 0.76
43 Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline. Brain 2016 0.75
44 CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Epilepsy Res 2009 0.75
45 Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA. Am J Med Genet A 2011 0.75
46 Dalfampridine in hereditary spastic paraplegia: a prospective, open study. J Neurol 2015 0.75