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TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration
TDP‐43 (TAR‐DNA binding protein) aggregates in neuronal inclusions in motoneuron disease (MND), as well as in frontotemporal lobar degeneration (FTLD) and FTLD associated with MND (FTLD‐MND).Expand
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High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease
Performing exome sequencing in 14 autosomal dominant early-onset Alzheimer disease (ADEOAD) index cases without mutation on known genes (amyloid precursor protein (APP), presenilin1 (PSEN1) andExpand
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  • Open Access
Partial deletion of the MAPT gene: A novel mechanism of FTDP‐17
A heterozygous genomic deletion removing exons 6 to 9 of the microtubule associated protein tau (MAPT) gene, predicting to result into a truncated protein lacking the first microtubule bindingExpand
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Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques
We describe the biological consequences on PSEN1 exons 8 or 9 splicing and Aβ peptides production of four PSEN1 mutations associated with a phenotypic variant of Alzheimer disease, which includesExpand
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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
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 andExpand
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EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics
BackgroundWhole exome sequencing (WES) has become the strategy of choice to identify a coding allelic variant for a rare human monogenic disorder. This approach is a revolution in medical geneticsExpand
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  • Open Access
A case of logopenic primary progressive aphasia with C9ORF72 expansion and cortical florbetapir binding.
We report the case of a 65-year-old woman, clinically diagnosed with the logopenic variant of primary progressive aphasia (PPA), and carrier of C9ORF72 expansion, despite cerebrospinal fluidExpand
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Characteristics of familial aggregation in early-onset Alzheimer's disease: evidence of subgroups.
Characteristics of familial aggregation of Alzheimer's Disease were studied in 92 families ascertained through a clinically diagnosed proband with an onset below age 60 years. In each family dataExpand
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Modified in situ decompression of the ulnar nerve at the elbow.
Controversy continues to surround the treatment of ulnar nerve compression at the elbow in the cubital tunnel. By performing extensive segmental electrodiagnostic studies of the ulnar nerve throughExpand
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The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer's disease alters the secondary structure of the hydrophilic loop.
Autosomal dominant early-onset Alzheimer's disease results mainly from mutations of the presenilin 1 (PSEN1) gene, which codes for an integral membrane protein of 467 amino acids. The hydrophilicExpand
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