Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

Autor: Béryl Royer‐Bertrand, Pinelopi Tsouni, Patrick Mullen, Belinda Campos Xavier, Lauréane Mittaz Crettol, Alexander J. Lobrinus, Joseph Ghika, Matthias R. Baumgartner, Carlo Rivolta, Andrea Superti‐Furga, Thierry Kuntzer, Christopher Francklyn, Christel Tran

Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1072-1080 (2019)

Abstract Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the susp

Externí odkaz: https://doaj.org/article/691397fd3c9542e4ba75adb6c4e5b951

Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

Autor: Cori DeSanto, Beth A. Kozel, Ebtesam M. Abdalla, Asmaa K. Amin, Marwan Shinawi, Lauréane Mittaz-Crettol, Belinda Campos-Xavier, Andrea Superti-Furga, Sheila Unger, Eliza R Thompson, Ganka Douglas, David B. Wilson, William H. McAlister, Beryl Royer-Bertrand, Lisa E. Kratz

Publikováno v: Bone. 120:354-363

LBR (Lamin B Receptor) encodes a bifunctional protein important for cholesterol biosynthesis and heterochromatin organization on the inner nuclear membrane. Pathogenic variants in LBR are associated with marked phenotypic variability, ranging from th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::658e44f9f2f4bd6d169a06bc08616858
https://doi.org/10.1016/j.bone.2018.11.006

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

Autor: Katarina Cisarova, Beryl Royer-Bertrand, Heidi Fodstad, Andrea Superti-Furga, Lauréane Mittaz-Crettol, Florence Niel-Bütschi

Publikováno v: Genes, Vol 12, Iss 1427, p 1427 (2021)
Genes
Volume 12
Issue 9

To assess the potential of detecting copy number variations (CNVs) directly from exome sequencing (ES) data in diagnostic settings, we developed a CNV-detection pipeline based on ExomeDepth software and applied it to ES data of 450 individuals. Initi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e87859e17f67de8b43a26be36598f31d
https://doi.org/10.3390/genes12091427

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic; HARS; variant

Autor: Pinelopi Tsouni, Beryl Royer-Bertrand, Joseph Ghika, Thierry Kuntzer, Alexander J. Lobrinus, Christel Tran, Belinda Campos Xavier, Carlo Rivolta, Andrea Superti-Furga, Patrick Mullen, Lauréane Mittaz Crettol, Christopher S. Francklyn, Matthias R. Baumgartner

Publikováno v: Annals of Clinical and Translational Neurology, Vol 6, Iss 6, Pp 1072-1080 (2019)
Annals of clinical and translational neurology, vol. 6, no. 6, pp. 1072-1080

Background A 49‐year‐old male presented with late‐onset demyelinating peripheral neuropathy, cerebellar atrophy, and cognitive deficit. Nerve biopsy revealed intra‐axonal inclusions suggestive of polyglucosan bodies, raising the suspicion of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e14906f1ccf6cb055b79001b66d86a

Identification of novel LFNG mutations in spondylocostal dysostosis

Autor: Lauréane Mittaz-Crettol, Kazuharu Takikawa, Long Guo, Belinda Campos-Xavier, Hsing Fang Lu, Shuhei Yamada, Nao Otomo, Shuji Mizumoto, Morio Matsumoto, Kota Watanabe, Masaya Nakamura, Kazuki Takeda, Shiro Ikegawa

Publikováno v: Journal of human genetics. 64(3)

Spondylocostal dysostosis (SCDO) is a heterogeneous group of skeletal disorders characterized by multiple segmentation defects involving vertebrae and ribs. Seven disease genes have been reported as causal genes for SCDO: DLL3, MESP2, TBX6, HES7, RIP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf746f6e5e3793154b25e3cfc3145079
https://pubmed.ncbi.nlm.nih.gov/30531807