Search Results - "Pyromali I"

CRISPR Base Editing to Create Potential Charcot-Marie-Tooth Disease Models with High Editing Efficiency: Human Induced Pluripotent Stem Cell Harboring SH3TC2 Variants.

Authors: Loret C Pauset A Faye PA et al.

Source: Biomedicines [Biomedicines] 2024 Jul 12; Vol. 12 (7). Date of Electronic Publication: 2024 Jul 12.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

Advances in modeling the Charcot-Marie-Tooth disease: Human induced pluripotent stem cell-derived Schwann cells harboring SH3TC2 variants.

Authors: Loret C Scherrer C Rovini A et al.

Source: European journal of cell biology [Eur J Cell Biol] 2025 Jun; Vol. 104 (2), pp. 151485. Date of Electronic Publication: 2025 Mar 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Germany NLM ID: 7906240 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1618-1298 (Electronic) Linking ISSN: 01719335 NLM ISO Abbreviation: Eur J Cell Biol Subsets: MEDLINE

The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy.

Authors: Pyromali I Richard L Derouault P et al.

Source: Biomedicines [Biomedicines] 2023 May 28; Vol. 11 (6). Date of Electronic Publication: 2023 May 28.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE

From Negative to Positive Diagnosis: Structural Variation Could Be the Second Mutation You Are Looking for in a Recessive Autosomal Gene.

Authors: Pyromali I Benslimane N Favreau F et al.

Source: Journal of personalized medicine [J Pers Med] 2022 Feb 03; Vol. 12 (2). Date of Electronic Publication: 2022 Feb 03.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101602269 Publication Model: Electronic Cited Medium: Print ISSN: 2075-4426 (Print) Linking ISSN: 20754426 NLM ISO Abbreviation: J Pers Med Subsets: PubMed not MEDLINE

P11.19 Glioblastoma cancer stem cells proliferation and cell cycle arrest under TTFields influence.

Authors: Mazzanti, M Verduci, I Cannavale, G et al.

Source: Neuro-oncology 2019 Supplement; Vol. 21.

Journal Info: Publisher: Oxford University Press / USA ISSN: 1522-8517

Amlexanox: Readthrough Induction and Nonsense-Mediated mRNA Decay Inhibition in a Charcot-Marie-Tooth Model of hiPSCs-Derived Neuronal Cells Harboring a Nonsense Mutation in GDAP1 Gene.

Authors: Benslimane N Miressi F Loret C et al.

Source: Pharmaceuticals (Basel, Switzerland) [Pharmaceuticals (Basel)] 2023 Jul 21; Vol. 16 (7). Date of Electronic Publication: 2023 Jul 21.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101238453 Publication Model: Electronic Cited Medium: Print ISSN: 1424-8247 (Print) Linking ISSN: 14248247 NLM ISO Abbreviation: Pharmaceuticals (Basel) Subsets: PubMed not MEDLINE

New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.

Authors: Pyromali I Perani A Nizou A et al.

Source: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2021 Jul 30; Vol. 19, pp. 4265-4272. Date of Electronic Publication: 2021 Jul 30 (Print Publication: 2021).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

A mutation can hide another one: Think Structural Variants!

Authors: Miressi F Faye PA Pyromali I et al.

Source: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2020 Aug 02; Vol. 18, pp. 2095-2099. Date of Electronic Publication: 2020 Aug 02 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE