Christine Tranchant

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Publications in SciGraph latest 50 shown

  • 2018-12 Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-10 Primary brain calcification: an international study reporting novel variants and associated phenotypes in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-09 Prospective study of relevance of 123I-MIBG myocardial scintigraphy and clonidine GH test to distinguish Parkinson’s disease and multiple system atrophy in JOURNAL OF NEUROLOGY
  • 2017-12 Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein in SCIENTIFIC REPORTS
  • 2017-12 Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues in ACTA NEUROPATHOLOGICA
  • 2017-06 Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work in JOURNAL OF NEUROLOGY
  • 2017-05 Subacute parkinsonism as a complication of Lyme disease in JOURNAL OF NEUROLOGY
  • 2016-12 A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3 in BMC NEUROLOGY
  • 2016-08 Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2) in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2016-08 Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia in JOURNAL OF NEUROLOGY
  • 2016-07 Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases in JOURNAL OF NEUROLOGY
  • 2016-06 Quality of life in Parkinson’s disease improved by apomorphine pump: the OPTIPUMP cohort study in JOURNAL OF NEUROLOGY
  • 2016-05 Normalisation of brain spectroscopy findings in Niemann–Pick disease type C patients treated with miglustat in JOURNAL OF NEUROLOGY
  • 2015-12 Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study in ORPHANET JOURNAL OF RARE DISEASES
  • 2015-02 Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice in JOURNAL OF NEUROLOGY
  • 2014-09 Anti-Hu-associated brainstem encephalitis with ganglioneuroblastoma in a young adult in JOURNAL OF NEUROLOGY
  • 2014-08 Overall mutational spectrum of SLC20A2, PDGFB and PDGFRB in idiopathic basal ganglia calcification in NEUROGENETICS
  • 2014-02 SPG15: a cause of juvenile atypical levodopa responsive parkinsonism in JOURNAL OF NEUROLOGY
  • 2014-01 Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease in JOURNAL OF NEUROLOGY
  • 2013-12 Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression in ORPHANET JOURNAL OF RARE DISEASES
  • 2012-08 Next generation sequencing for molecular diagnosis of neuromuscular diseases in ACTA NEUROPATHOLOGICA
  • 2011-02 Transcriptome analysis reveals differentially expressed genes associated with the mantled homeotic flowering abnormality in oil palm (Elaeis guineensis) in TREE GENETICS & GENOMES
  • 2010-08 Symptomatic paroxysmal dysarthria-ataxia in demyelinating diseases in JOURNAL OF NEUROLOGY
  • 2010-02 A novel variation in the Twinkle linker region causing late-onset dementia in NEUROGENETICS
  • 2010-02 Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management in NEUROGENETICS
  • 2009-01 SPG11 spastic paraplegia in JOURNAL OF NEUROLOGY
  • 2007-08 An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus in NATURE
  • 2006-11 SSR mining in coffee tree EST databases: potential use of EST–SSRs as markers for the Coffea genus in MOLECULAR GENETICS AND GENOMICS
  • 2004-07 Genetic control of autoantibody expression in autoimmune myasthenia gravis: role of the self-antigen and of HLA-linked loci in GENES & IMMUNITY
  • 2004-03 Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2 in NATURE GENETICS
  • 2004-01 Association of the gene encoding the δ-subunit of the muscle acetylcholine receptor (CHRND) with acquired autoimmune myasthenia gravis in GENES & IMMUNITY
  • 2002-03 Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease in JOURNAL OF NEUROLOGY
  • 2001-05 Disease Expression of Lyme Borreliosis in Northeastern France in EUROPEAN JOURNAL OF CLINICAL MICROBIOLOGY & INFECTIOUS DISEASES
  • 2000-12 The Miller Fisher syndrome: neurophysiological and MRI evidence of both peripheral and central origin in one case in JOURNAL OF NEUROLOGY
  • 2000-11 MRI in multiple sclerosis of the spinal cord: evaluation of fast short-tan inversion-recovery and spin-echo sequences in NEURORADIOLOGY
  • 1990-12 MR findings in mannosidosis in NEURORADIOLOGY
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