Published in Brain on August 01, 2009
Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders. PLoS One (2009) 0.98
Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations. J Neurol (2010) 0.89
Astrocytes are central in the pathomechanisms of vanishing white matter. J Clin Invest (2016) 0.82
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5. Neurogenetics (2011) 0.82
Fifteen novel EIF2B1-5 mutations identified in Chinese children with leukoencephalopathy with vanishing white matter and a long term follow-up. PLoS One (2015) 0.78
Developmental splicing deregulation in leukodystrophies related to EIF2B mutations. PLoS One (2012) 0.78
A yeast purification system for human translation initiation factors eIF2 and eIF2Bε and their use in the diagnosis of CACH/VWM disease. PLoS One (2013) 0.77
Inherited and acquired disorders of myelin: The underlying myelin pathology. Exp Neurol (2016) 0.77
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation. Arch Neurol (2012) 0.75
Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies. J Neurol (2016) 0.75
Natalizumab plus interferon beta-1a for relapsing multiple sclerosis. N Engl J Med (2006) 6.25
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
Randomized trial of oral teriflunomide for relapsing multiple sclerosis. N Engl J Med (2011) 4.93
Alemtuzumab versus interferon beta 1a as first-line treatment for patients with relapsing-remitting multiple sclerosis: a randomised controlled phase 3 trial. Lancet (2012) 4.25
Alemtuzumab for patients with relapsing multiple sclerosis after disease-modifying therapy: a randomised controlled phase 3 trial. Lancet (2012) 3.89
Early clinical predictors and progression of irreversible disability in multiple sclerosis: an amnesic process. Brain (2003) 3.39
Prevalence of dementia in Latin America, India, and China: a population-based cross-sectional survey. Lancet (2008) 3.30
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
Natural history of multiple sclerosis: a unifying concept. Brain (2006) 2.96
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Neuromyelitis optica IgG predicts relapse after longitudinally extensive transverse myelitis. Ann Neurol (2006) 2.80
Dominant form of vanishing white matter-like leukoencephalopathy. Ann Neurol (2005) 2.67
Aquaporin-4 antibody-negative neuromyelitis optica: distinct assay sensitivity-dependent entity. Neurology (2013) 2.59
Age at disability milestones in multiple sclerosis. Brain (2006) 2.37
NF-1Score: a prediction score for internal neurofibromas in neurofibromatosis-1. J Invest Dermatol (2010) 2.25
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet (2007) 2.17
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A (2003) 2.17
Long-term outcomes of CLIPPERS (chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids) in a consecutive series of 12 patients. Arch Neurol (2012) 2.13
Houston paramedic and emergency stroke treatment and outcomes study (HoPSTO). Stroke (2005) 2.12
Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol (2009) 2.12
Terlipressin in patients with cirrhosis and type 1 hepatorenal syndrome: a retrospective multicenter study. Gastroenterology (2002) 2.06
Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology (2012) 2.05
Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain (2013) 2.02
Genetics of cavernous angiomas. Lancet Neurol (2007) 2.02
Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry (2012) 1.94
Positioning trocars for performing sleeve gastrectomy. Points of controversy. Obes Surg (2015) 1.90
Natural history of multiple sclerosis with childhood onset. N Engl J Med (2007) 1.89
Health-related quality of life in multiple sclerosis: effects of natalizumab. Ann Neurol (2007) 1.88
Prognostic factors of CNS tumours in Neurofibromatosis 1 (NF1): a retrospective study of 104 patients. Brain (2003) 1.85
Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet (2008) 1.79
A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol (2010) 1.77
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
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet (2012) 1.71
Pregnancy and multiple sclerosis (the PRIMS study): clinical predictors of post-partum relapse. Brain (2004) 1.70
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. Am J Hum Genet (2002) 1.64
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
Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus. Ann Neurol (2002) 1.60
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet (2013) 1.59
Recent insights into cerebral cavernous malformations: the molecular genetics of CCM. FEBS J (2010) 1.53
Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network. Genet Med (2007) 1.52
First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability. J Pediatr (2004) 1.48
Covered self-expandable biliary stents for the treatment of bleeding after ERCP. Gastrointest Endosc (2013) 1.47
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Alcohol relapse after liver transplantation for alcoholic liver disease: does it matter? J Hepatol (2003) 1.47
The efficacy of natalizumab in patients with relapsing multiple sclerosis: subgroup analyses of AFFIRM and SENTINEL. J Neurol (2009) 1.46
Long-term course of demyelinating neuropathies occurring during tumor necrosis factor-alpha-blocker therapy. Arch Neurol (2009) 1.43
Oligodendrocytes are damaged by neuromyelitis optica immunoglobulin G via astrocyte injury. Brain (2010) 1.42
Ovarian failure related to eukaryotic initiation factor 2B mutations. Am J Hum Genet (2003) 1.41
Tear analysis in clinically isolated syndrome as new multiple sclerosis criterion. Mult Scler (2009) 1.41
Secondary progressive multiple sclerosis: current knowledge and future challenges. Lancet Neurol (2006) 1.40
Vasculitis neuropathy mimicking lower limb mono-radiculopathy: a study and follow-up of 8 cases. Intern Emerg Med (2012) 1.40
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Head drops are also observed in advanced Huntington disease. Parkinsonism Relat Disord (2013) 1.39
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet (2011) 1.38
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood (2011) 1.37
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology (2012) 1.35
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke. Ann Neurol (2007) 1.34
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. Eur J Hum Genet (2008) 1.34
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
MRI prognostic factors for relapse after acute CNS inflammatory demyelination in childhood. Brain (2004) 1.31
Patterns of expression of the three cerebral cavernous malformation (CCM) genes during embryonic and postnatal brain development. Gene Expr Patterns (2006) 1.29
Metabotropic glutamate receptor type 1 autoantibody-associated cerebellitis: a primary autoimmune disease? Arch Neurol (2010) 1.28
Teriflunomide versus subcutaneous interferon beta-1a in patients with relapsing multiple sclerosis: a randomised, controlled phase 3 trial. Mult Scler (2013) 1.25
Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with Cerebral Cavernous Malformations. Eur J Hum Genet (2002) 1.25
Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet (2009) 1.23
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients. Brain (2004) 1.22
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings. Ann Neurol (2002) 1.22
RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection. Nat Genet (2009) 1.22
A benign form of neuromyelitis optica: does it exist? Arch Neurol (2011) 1.21
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat (2004) 1.21
Optical coherence tomography in neuromyelitis optica. Arch Neurol (2008) 1.20
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. Am J Med Genet A (2015) 1.17
C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing. J Alzheimers Dis (2013) 1.16
Mortality associated with neurofibromatosis 1: a cohort study of 1895 patients in 1980-2006 in France. Orphanet J Rare Dis (2011) 1.16
DNA microarray analysis of gene expression in eutopic endometrium from patients with deep endometriosis using laser capture microdissection. Fertil Steril (2005) 1.14
NMO-IgG and Devic's neuromyelitis optica: a French experience. Mult Scler (2008) 1.12
Tyrosine kinase 2 variant influences T lymphocyte polarization and multiple sclerosis susceptibility. Brain (2011) 1.11
Should decompressive surgery be performed in malignant cerebral venous thrombosis?: a series of 12 patients. Stroke (2010) 1.11
Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. Eur J Hum Genet (2004) 1.11
Brain and bone damage in KARAP/DAP12 loss-of-function mice correlate with alterations in microglia and osteoclast lineages. Am J Pathol (2005) 1.11
Geographic variations of multiple sclerosis in France. Brain (2010) 1.10
In vivo analysis of the post-natal development of normal mouse brain by DTI. NMR Biomed (2007) 1.10