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  • Pierre Labauge

    Prominent publications by Pierre Labauge

    KOL Index score: 15518

    We performed whole-exome and whole-genome sequencing in 927 late-onset Alzheimer disease (LOAD) cases, 852 early-onset AD (EOAD) cases, and 1273 controls from France. We assessed the evidence for gene-based association of rare variants with AD in 6 genes for which an association with such variants was previously claimed. When aggregating protein-truncating and missense-predicted damaging variants, we found exome-wide significant association between EOAD risk and rare variants in SORL1, ...

    Also Ranks for: Rare Variants |  trem2 sorl1 |  alzheimer disease |  genetic association |  genome wide
    KOL Index score: 11416

    Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as an autosomal-dominant trait (DOA). We here report on eight patients from six independent families showing that mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive ...

    Also Ranks for: Opa1 Mutations |  mitochondrial dna |  optic atrophy |  missense ophthalmoplegia |  skeletal mutation
    KOL Index score: 10357

    OBJECTIVE: To describe clinical and radiologic features associated with myelin oligodendrocyte glycoprotein antibodies (MOG-Ab) in a large French nationwide adult cohort, to assess baseline prognostic features of MOG-Ab-associated diseases after a first acute demyelinating syndrome, and to evaluate the clinical value of MOG-Ab longitudinal analysis.

    METHODS: Clinical data were obtained from 197 MOG-Ab-positive patients ≥18 years of age. Complete imaging data were available in 108, and 54 ...

    Also Ranks for: Clinical Spectrum |  cns mog |  lower risk |  positive patients |  ≥18 years
    KOL Index score: 10178

    Idiopathic basal ganglia calcification is characterized by mineral deposits in the brain, an autosomal dominant pattern of inheritance in most cases and genetic heterogeneity. The first causal genes, SLC20A2 and PDGFRB, have recently been reported. Diagnosing idiopathic basal ganglia calcification necessitates the exclusion of other causes, including calcification related to normal ageing, for which no normative data exist. Our objectives were to diagnose accurately and then describe the ...

    Also Ranks for: Ganglia Calcification |  idiopathic basal |  slc20a2 pdgfrb |  sporadic cases |  plateletderived growth factor
    KOL Index score: 10094

    OBJECTIVE: In this study, we compared the effectiveness of teriflunomide (TRF) and dimethyl fumarate (DMF) on both clinical and MRI outcomes in patients followed prospectively in the Observatoire Français de la Sclérose en Plaques.

    METHODS: A total of 1,770 patients with relapsing-remitting multiple sclerosis (RRMS) (713 on TRF and 1,057 on DMF) with an available baseline brain MRI were included in intention to treat. The 1- and 2-year postinitiation outcomes were relapses, increase of ...

    Also Ranks for: Dimethyl Fumarate |  trf dmf |  comparative effectiveness |  multiple sclerosis |  patients rrms
    KOL Index score: 10005

    OBJECTIVE: We have previously identified male sex, younger age, and the presence of spinal cord lesions as independent factors that increase the 5-year risk for evolution from radiologically isolated syndrome (RIS) to multiple sclerosis. Here, we investigate risk factors for the development of a clinical event using a 10-year, multinational, retrospectively identified RIS dataset.

    METHODS: RIS subjects were identified according to 2009 RIS criteria and followed longitudinally as part of ...

    Also Ranks for: Clinical Event |  radiologically isolated syndrome |  ris multiple sclerosis |  10 years |  spinal cord lesions
    KOL Index score: 9994

    The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid ...

    Also Ranks for: Plasma Oxysterols |  spg5 patients |  spastic paraplegia |  total cholesterol |  type 5
    KOL Index score: 9923

    OBJECTIVE: To compare natalizumab and fingolimod on both clinical and MRI outcomes in patients with relapsing-remitting multiple sclerosis (RRMS) from 27 multiple sclerosis centers participating in the French follow-up cohort Observatoire of Multiple Sclerosis.

    METHODS: Patients with RRMS included in the study were aged from 18 to 65 years with an Expanded Disability Status Scale score of 0-5.5 and an available brain MRI performed within the year before treatment initiation. The data ...

    Also Ranks for: Natalizumab Fingolimod |  patients rrms |  year treatment |  comparative efficacy |  new lesions
    KOL Index score: 9397

    Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated genes accounts for heterogeneous clinical presentations, making genotype-phenotype correlations a major challenge in the field. While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for ...

    Also Ranks for: Cerebellar Ataxia |  cacna1a mutations |  spg7 variants |  age onset |  genotype phenotype
    KOL Index score: 8962

    Primary familial brain calcification (PFBC) is a rare neurogenetic disorder with diverse neuropsychiatric expression. Mutations in four genes cause autosomal dominant PFBC: SLC20A2, XPR1, PDGFB and PDGFRB. Recently, biallelic mutations in the MYORG gene have been reported to cause PFBC with an autosomal recessive pattern of inheritance. We screened MYORG in 29 unrelated probands negatively screened for the autosomal dominant PFBC genes and identified 11 families with a biallelic rare or ...

    Also Ranks for: Myorg Mutation |  primary brain calcification |  pfbc patients |  heterozygote humans |  autosomal dominant
    KOL Index score: 8883

    Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by progressive distal degeneration of the corticospinal tracts. Among the 79 loci and 65 spastic paraplegia genes (SPGs) involved in HSPs, mutations in SPAST, which encodes spastin, responsible for SPG4, are the most frequent cause of both familial and sporadic HSP. SPG4 is characterized by a clinically pure phenotype associated with restricted involvement of the corticospinal tracts and posterior columns of the ...

    Also Ranks for: Spastic Paraplegia |  age onset |  spast mutations |  corticospinal tracts |  patients spg4
    KOL Index score: 8393

    OBJECTIVE: To evaluate the effects of oral delayed-release dimethyl fumarate (DMF; also known as gastro-resistant DMF) on MRI lesion activity and load, atrophy, and magnetization transfer ratio (MTR) measures from the Comparator and an Oral Fumarate in Relapsing-Remitting Multiple Sclerosis (CONFIRM) study.

    METHODS: CONFIRM was a 2-year, placebo-controlled study of the efficacy and safety of DMF 240 mg twice (BID) or 3 times daily (TID) in 1,417 patients with relapsing-remitting multiple ...

    Also Ranks for: Dimethyl Fumarate |  mri measures |  brain volume |  effects dmf |  remitting multiple
    KOL Index score: 6045

    Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this repeat expansion, in MARCH6 (FAME3) in four European families. Analysis of single DNA molecules with nanopore sequencing and molecular combing show that expansions range from 3.3 to 14 kb on ...

    Also Ranks for: Myoclonic Epilepsy |  familial adult |  repeat expansion |  cortical tremor |  molecular combing
    KOL Index score: 5854

    BACKGROUND: Delayed-release dimethyl fumarate (DMF), indicated for the treatment of patients with relapsing-remitting multiple sclerosis (MS), is a disease-modifying therapy with potential immunomodulatory and neuroprotective effects. In clinical trials, DMF was associated with reduced white blood cell and absolute lymphocyte counts. Current US prescribing information recommends obtaining a complete blood count, including absolute lymphocyte count (ALC), before initiating and during DMF ...

    Also Ranks for: Lymphocyte Count |  dimethyl fumarate |  dmf treatment |  lower limit |  diseasemodifying therapy
    KOL Index score: 5096

    Next-generation sequencing (NGS) has an established diagnostic value for inherited ataxia. However, the need of a rigorous process of analysis and validation remains challenging. Moreover, copy number variations (CNV) or dynamic expansions of repeated sequence are classically considered not adequately detected by exome sequencing technique. We applied a strategy of mini-exome coupled to read-depth based CNV analysis to a series of 33 patients with probable inherited ataxia and onset <50 ...

    Also Ranks for: Inherited Ataxia |  sequence analysis |  exome sequencing |  dna copy |  age onset


    Pierre Labauge: Influence Statistics

    Sample of concepts for which Pierre Labauge is among the top experts in the world.
    Concept World rank
    antihu antibody syndrome #3
    years spg7 #7
    years polyglutamine #7
    ataxias channelopathies #7
    cacna1a spg7 #7
    exclusion cacna1a #7
    channel genes cacna1a #7
    calcium female genes #7
    ataxia highlights #7
    cacna1a expansions #7
    frequency channelopathies #7
    dominant cerebellar ataxia #9
    penetrance lower #9
    outcomes dmf #9

    Key People For Clinical Event

    Top KOLs in the world
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    Braunwald Braunwald
    myocardial infarction heart failure atrial fibrillation
    Patrick W J C Serruys
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    Robert M Califf
    myocardial infarction thrombolytic therapy heart failure
    Salim S Yusuf
    heart failure cardiovascular disease atrial fibrillation
    Roxanna Mehran
    myocardial infarction percutaneous coronary major bleeding

    Pierre Labauge:Expert Impact

    Concepts for whichPierre Labaugehas direct influence:Clinical event,  Rare variants,  Disability progression,  Hypomorphic variants,  Plasma oxysterols,  Multiple sclerosis,  Spastic paraplegia,  Opa1 mutations.

    Pierre Labauge:KOL impact

    Concepts related to the work of other authors for whichfor which Pierre Labauge has influence:Multiple sclerosis,  Optic atrophy,  Mitochondrial dynamics,  Dimethyl fumarate,  Brain calcification,  Myelin oligodendrocyte,  Opa1 mutations.



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    Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France | Université Montpellier-Nîmes I, INSERM, CNRS, Service de neurologie, CHU de Montpellier - Centre A. Benech, avenue Doyen Giraud, 34295 Montpellier cedex 5, F