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» Authors » Cecile Cazeneuve

Cecile Cazeneuve

Explore the profile of Cecile Cazeneuve including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 50
Citations 1333
Followers 0
Related Specialties
Neurology
Genetics
Physiology
Top 10 Co-Authors
Alexis Brice
Eric Leguern
Alexandra Durr
Stephanie Millecamps
Vincent Meininger
Francois Salachas
William Camu
Isabelle Le Ber
Danielle Seilhean
Agnes Camuzat
Published In
Neurobiol Aging
J Med Genet
Brain
Hum Mutat
Eur J Hum Genet
Affiliations
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Recent Articles
1.
Cardiogenetics and uncertainty: Evaluation of professional vulnerability in France
Gaudillat L, Patay L, Sawka C, Baurand A, Nambot S, Level C, et al.
Eur J Med Genet . 2025 Feb; 74:104999. PMID: 39933637
Scientific advances in genomics are transforming healthcare and prevention. However, they also increase situations of uncertainty, which in turn increase vulnerability not only for patients and their families but also...
2.
Prevalence and phenotypes associated with ALPK3 null variants in a large French multicentric cohort: Confirming its involvement in hypertrophic cardiomyopathy
Ader F, Jedraszak G, Janin A, Billon C, Buisson N, Bloch A, et al.
Clin Genet . 2024 Feb; 105(6):676-682. PMID: 38356193
Biallelic disease-causing variants in the ALPK3 gene were first identified in children presenting with a severe cardiomyopathy. More recently, it was shown that carriers of heterozygous ALPK3 null variants are...
3.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
Janin A, Perouse de Montclos T, Nguyen K, Consolino E, Nadeau G, Rey G, et al.
Mol Diagn Ther . 2022 Jul; 26(5):551-560. PMID: 35838873
Background And Objective: Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for which substantial evidence for a genetic contribution was previously reported. We present...
4.
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with Compound Heterozygous Mutations
Theuriet J, Pegat A, Leblanc P, Vukusic S, Cazeneuve C, Millecamps S, et al.
Genes (Basel) . 2021 Dec; 12(12). PMID: 34946825
Biallelic mutations in the gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and...
5.
SLITRK2, an X-linked modifier of the age at onset in C9orf72 frontotemporal lobar degeneration
Barbier M, Camuzat A, Hachimi K, Guegan J, Rinaldi D, Lattante S, et al.
Brain . 2021 Oct; 144(9):2798-2811. PMID: 34687211
The G4C2-repeat expansion in C9orf72 is the most common cause of frontotemporal dementia and of amyotrophic lateral sclerosis. The variability of age at onset and phenotypic presentations is a hallmark...
6.
Propensity for somatic expansion increases over the course of life in Huntington disease
Kacher R, Lejeune F, Noel S, Cazeneuve C, Brice A, Humbert S, et al.
Elife . 2021 May; 10. PMID: 33983118
Recent work on Huntington disease (HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neurons, explains clinical outcomes better than the length of...
7.
Molecular Diagnosis of Inherited Cardiac Diseases in the Era of Next-Generation Sequencing: A Single Center's Experience Over 5 Years
Janin A, Januel L, Cazeneuve C, Deliniere A, Chevalier P, Millat G
Mol Diagn Ther . 2021 May; 25(3):373-385. PMID: 33954932
Background And Objective: Molecular diagnosis in inherited cardiac diseases is challenging because of the significant genetic and clinical heterogeneity. We present a detailed molecular investigation of a cohort of 4185...
8.
Impact of a frequent nearsplice variant in amyotrophic lateral sclerosis: optimising genetic screening for gene therapy opportunities
Muratet F, Teyssou E, Chiot A, Boillee S, Lobsiger C, Bohl D, et al.
J Neurol Neurosurg Psychiatry . 2021 Mar; 92(9):942-949. PMID: 33785574
Objective: Mutations in superoxide dismutase 1 gene (, encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor neuron disease...
9.
SOD1-related ALS with anticipation in a large family from Martinique
Giguet-Valard A, Bellance R, Jeannin S, Duclos S, Olive P, Allard-Saint-Albin O, et al.
Amyotroph Lateral Scler Frontotemporal Degener . 2021 Mar; 22(7-8):545-551. PMID: 33754899
Amyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms....
10.
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
Amador M, Gargiulo M, Boucher C, Herson A, Staraci S, Salachas F, et al.
Neurol Genet . 2020 Dec; 7(1):e538. PMID: 33376800
Objective: We aimed to describe the population of subjects seeking presymptomatic counseling for amyotrophic lateral sclerosis and/or frontotemporal dementia (ALS/FTD) and compared them with those demanding the well-established presymptomatic test...