Annabelle Chaussenot
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View article: Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the <scp><i>MFN2</i></scp> and <scp><i>GDAP1</i></scp> Genes
Digenesis in Charcot–Marie–Tooth Disease: Impact of Combined Mutations in the <span><i>MFN2</i></span> and <span><i>GDAP1</i></span> Genes Open
Background and Aims Charcot–Marie–Tooth disease (CMT) is a rare hereditary neuropathy that affects peripheral nerves in the upper and lower limbs. To distinguish between the different forms of the disease, electrophysiological criteria are…
View article: <i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity
<i>De novo</i> and inherited monoallelic variants in <i>TUBA4A</i> cause ataxia and spasticity Open
Alpha-tubulin 4A encoding gene (TUBA4A) has been associated with familial amyotrophic lateral sclerosis and frontotemporal dementia, based on identification of likely pathogenic variants in patients from distinct amyotrophic lateral sclero…
View article: Primary mitochondrial disorders and mimics: Insights from a large French cohort
Primary mitochondrial disorders and mimics: Insights from a large French cohort Open
Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitoc…
View article: Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations
Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cavernous malformations Open
Loss-of-function variants in CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 genes are identified in the vast majority of familial cases with multiple cerebral cavernous malformations. However, genomic DNA sequencing combined to large rearrangeme…
View article: A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations Open
Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease…
View article: Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability Open
Biallelic rare variants in NARS2 that encode the mitochondrial asparaginyl-tRNA synthetase are associated with a wide spectrum of clinical phenotypes ranging from severe neurodegenerative disorders to isolated mitochondrial myopathy or dea…
View article: Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach Open
View article: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes Open
View article: A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course Open
View article: High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families Open
View article: DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes Open
Objective DNAJC3 , also known as P58 IPK , is an Hsp40 family member that interacts with and inhibits PKR-like ER-localized eIF2α kinase (PERK). Dnajc3 deficiency in mice causes pancreatic β-cell loss and diabetes. Loss-of-function mutatio…
View article: Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia Open
View article: Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule Open
Non-Invasive Prenatal Diagnosis (NIPD), based on the analysis of circulating cell-free fetal DNA (cff-DNA), is successfully implemented for an increasing number of monogenic diseases. However, technical issues related to cff-DNA characteri…
View article: DNAJC3 deficiency induces mitochondrial β-cell apoptosis and causes young-onset diabetes and neurodegeneration
DNAJC3 deficiency induces mitochondrial β-cell apoptosis and causes young-onset diabetes and neurodegeneration Open
Supplementary data of paper entitled: "DNAJC3 deficiency induces mitochondrial β-cell apoptosis and causes young-onset diabetes and neurodegeneration". The file entitled "supplementary material" contains tables 1-4 and figure legends for s…
View article: A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs Open
View article: Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Open
Background Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-gen…
View article: Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation
Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Open
Purpose Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportun…
View article: <i>MT-CYB</i> deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
<i>MT-CYB</i> deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles Open
The oxidative phosphorylation system, involved in cellular adenosine triphosphate production, is composed of 5 complexes (complexes I–V). The complex III catalyzes the transfer of electrons from ubiquinol to cytochrome c and contains 11 su…
View article: Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases Open
View article: A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions Open
Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority…
View article: A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions Open
Wolfram syndrome (WS) is a progressive neurodegenerative disease characterized by early-onset optic atrophy and diabetes mellitus, which can be associated with more extensive central nervous system and endocrine complications. The majority…
View article: Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Open
View article: Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes Open
View article: Reply: High prevalence of<i>CHCHD10</i>mutations in patients with frontotemporal dementia from China: Table 1
Reply: High prevalence of<i>CHCHD10</i>mutations in patients with frontotemporal dementia from China: Table 1 Open
International audience
View article: Reply: Is<i>CHCHD10</i>Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Reply: Is<i>CHCHD10</i>Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? Open
International audience
View article: Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a<i>CHCHD10</i>mutation: Table 1
Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a<i>CHCHD10</i>mutation: Table 1 Open
Sir,
In a relatively short period of time, an increasing body of evidence has accumulated confirming the primary role of mitochondrial dysfunction in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) clinical spectrum …
View article: Reply:<i>CHCHD10</i>mutations in Italian patients with sporadic amyotrophic lateral sclerosis
Reply:<i>CHCHD10</i>mutations in Italian patients with sporadic amyotrophic lateral sclerosis Open
International audience