7 Result(s)
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Annabelle Chaussenot
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Article
Open AccessA recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
The ryanodine receptor RyR1 is the main sarcoplasmic reticulum Ca2+ channel in skeletal muscle and acts as a connecting link between electrical stimulation and Ca2+-dependent muscle contraction. Abnormal RyR1 act...
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Article
Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia
STUB1 has been first associated with autosomal recessive (SCAR16, MIM# 615768) and later with dominant forms of ataxia (SCA48, MIM# 618093). Pathogenic variations in STUB1 are now considered a frequent cause of c...
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Article
Open AccessSingle Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule
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...
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Article
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults
Cerebrotendineous xanthomatosis (CTX) is an autosomal recessive disorder of bile acids synthesis. Patients may present with a variety of clinical manifestations: bilateral cataract and chronic diarrhea during ...
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Article
Open AccessTargeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
Since the advent of next generation sequencing (NGS), several studies have tried to evaluate the relevance of targeted gene panel sequencing and whole exome sequencing for molecular diagnosis of mitochondrial ...
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Open AccessCoenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
Coenzyme Q10 (CoQ10 or ubiquinone) deficiency can be due either to mutations in genes involved in CoQ10 biosynthesis pathway, or to mutations in genes unrelated to CoQ10 biosynthesis. CoQ10 defect is the only oxi...
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Article
Open AccessA Prospective Study of Patients with Brain MRI Showing Incidental T2 Hyperintensities Addressed as Multiple Sclerosis: a Lot of Work to do Before Treating
With the development of magnetic resonance imaging (MRI) and publications about radiologically isolated syndrome (RIS), a lot of patients are referred to multiple sclerosis (MS) tertiary centers to confirm dia...
