Pierre Labauge

Pierre Labauge

Department Of Neurology, Gui De Chauliac Hospital, Chu De Montpellier, Montpellier, France

Direct Impact

Concepts for which Pierre Labauge has direct influence:

cerebellar ataxias
natural history
spastic paraplegias
autosomal dominant
isolated syndrome
genotype correlations
genetic bases

External impact

Concepts related to the work of other authors for which Pierre Labauge has influence:

exome array
optic atrophy
successful replication
gwas hits
opa1 gene
hla region
natalizumab therapy

Prominent publications by Pierre Labauge

KOL-Index: 70 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
Calcification Idiopathic | Sporadic | Age Pdgfrb | Radiological
KOL-Index: 67 Multiple sclerosis (MS) disease risk is associated with reduced sun-exposure. This study assessed the relationship between measures of sun exposure (vitamin D [vitD], latitude) and MS severity in the setting of two multicenter cohort studies (n NationMS = 946, n BIONAT = 990). Additionally, effect-modification by medication and photosensitivity-associated MC1R variants was assessed. High ...
Known for
Monocytes | Lower Disability Accumulation | Vitd Reduced | Higher Mri Activity
KOL-Index: 39 PurposeDiagnosis of inherited ataxia and related diseases represents a real challenge given the tremendous heterogeneity and clinical overlap of the various causes. We evaluated the efficacy of molecular diagnosis of these diseases by sequencing a large cohort of undiagnosed families.MethodsWe analyzed 366 unrelated consecutive patients with undiagnosed ataxia or related disorders by ...
Known for
Silico | C-Terminal Truncations | Challenge | Genetics
KOL-Index: 37 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
Ngs Cnv | Repeated Cag Sequence | Mini-Exome Bioinformatics | Inherited
KOL-Index: 36 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 ...
Known for
Prognostic Features | Adults Mog | Reaching | Ratio Compared
KOL-Index: 34 OBJECTIVE: To assess disease activity within 12 months after natalizumab (NZ) discontinuation in a large French postmarketing cohort. METHODS: In France, patients exposed at least once to NZ were included in the TYSEDMUS observational and multicenter cohort, part of the French NZ Risk Management Plan. Clinical disease activity during the year following NZ discontinuation was assessed in this ...
Known for
Discontinuation French | Relapse Year | Included Tysedmus | Natalizumab
KOL-Index: 32 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 ...
Known for
Robust Effects | Number Lesions | 681 | Statistical Significance
KOL-Index: 29 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
Spastic | Bile Acids | Cyp7b1 | Paraplegia
KOL-Index: 25 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 Autosomal | Biallelic Mutations | 11 Families | Radiological Features
KOL-Index: 23 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
Dominant | Ataxia | Classical Mitochondrial Cytopathies | Mtdna

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

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