Pierre Labauge: Influence Statistics

Pierre Labauge

Pierre Labauge

Department of Neurology, Gui de Chauliac Hospital, CHU de Montpellier, Montpellier, France | Université Montpellier-Nîmes I, INSERM, CNRS, Service de neurologie, CHU de ...

Pierre Labauge: Expert Impact

Concepts for which Pierre Labauge has direct influence: Clinical event , Rare variants , Disability progression , Hypomorphic variants , Plasma oxysterols , Multiple sclerosis , Spastic paraplegia .

Pierre Labauge: KOL impact

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

KOL Resume for Pierre Labauge


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, France


Gui de Chauliac University Hospital, Department of Neurology, Montpellier, France


Authors' affiliations are listed at the end of the article.

Department of Neurology University Hospital Gui de Chauliac Montpellier France


Département de Biochimie et Génétique, Centre Hospitalier Universitaire d’Angers, 2INSERM U694, Angers, France, 3Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy, 4Departamento de Bioquimica Instituto de Investigaciones Biomedicas ‘Alberto Sols’ CSIC-UAM, Facultad de Medicina, Universidad Autonoma de Madrid, CIBERER, ISCIII, Madrid, Spain, 5INSERM U583, Institut des Neurosciences de Montpellier, Universités de Montpellier I et II, Montpellier, France, 6Centro de Investigación, and Servicio de Neurologιa, Hospital Universitario 12 de Octubre, CIBERER, ISCIII, Madrid, Spain, 7Service de Neurologie, Centre Hospitalier Universitaire de Nîmes, Nîmes, France, 8Service d’Anatomie Pathologique et Neuropathologie, Centre Hospitalier Universitaire—Hopital de la Timone, Marseille, France, 9Service d’Anatomie Pathologique, Centre Hospitalier Universitaire de Brest, Brest, France, 10Service de Neurologie, Centre Hospitalier de Saint-Brieuc, Saint-Brieuc, France, 11Laboratoire de Neurobiologie et Neuropathologie, Centre Hospitalier Universitaire d’Angers, Angers, France, 12Institute of Neurological Sciences, National Research Council - Mangone, Cosenza, Italy, 13Dipartimento di Biologia Evoluzionistica Sperimentale, Università di Bologna, Bologna, Italy, 14Dipartimento di Scienze Biomediche, Sezione di Patologia Generale, Università di Modena e Reggio Emilia, Italy, 15Molecular Genetics Laboratory, University Eye Hospital Tuebingen, Germany, 16Département de Neurologie, Centre Hospitalier Universitaire d’Angers, Angers, France, 17Structural Biology, University of Salzburg, Austria and 18Servicio de Genética. Fundación Jiménez Díaz. CIBERER, ISCIII, Madrid, Spain

Hôpital Universitaire Caremau, Nîmes, France

Prominent publications by Pierre Labauge

KOL-Index: 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 ...
Known for Rare Variants | Trem2 Sorl1 | Alzheimer Disease | Genetic Association
KOL-Index: 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 ...
Known for Opa1 Mutations | Mitochondrial Dna | Optic Atrophy | Missense Ophthalmoplegia
KOL-Index: 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 ...
Known for Clinical Spectrum | Cns Mog | Lower Risk | Positive Patients
KOL-Index: 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, ...
Known for Ganglia Calcification | Idiopathic Basal | Slc20a2 Pdgfrb | Sporadic Cases
KOL-Index: 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 ...
Known for Dimethyl Fumarate | Trf Dmf | Comparative Effectiveness | Multiple Sclerosis
KOL-Index: 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: ...
Known for Clinical Event | Radiologically Isolated Syndrome | Ris Multiple Sclerosis | 10 Years
KOL-Index: 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 ...
Known for Plasma Oxysterols | Spg5 Patients | Spastic Paraplegia | Total Cholesterol
KOL-Index: 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 ...
Known for Natalizumab Fingolimod | Patients Rrms | Year Treatment | Comparative Efficacy
KOL-Index: 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, ...
Known for Cerebellar Ataxia | Cacna1a Mutations | Spg7 Variants | Age Onset
KOL-Index: 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 ...
Known for Myorg Mutation | Primary Brain Calcification | Pfbc Patients | Heterozygote Humans
KOL-Index: 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 ...
Known for Spastic Paraplegia | Age Onset | Spast Mutations | Corticospinal Tracts
KOL-Index: 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 ...
Known for Dimethyl Fumarate | Mri Measures | Brain Volume | Effects Dmf
KOL-Index: 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 ...
Known for Myoclonic Epilepsy | Familial Adult | Repeat Expansion | Cortical Tremor
KOL-Index: 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 ...
Known for Lymphocyte Count | Dimethyl Fumarate | Dmf Treatment | Lower Limit
KOL-Index: 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 ...
Known for Inherited Ataxia | Sequence Analysis | Exome Sequencing | Dna Copy

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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