Search Results - "Pyromali I"

Research focus and theme trend on Charcot–Marie–Tooth disease since 2000: a bibliometric analysis.

Authors: Dai, Shimiao Zhu, Junying Yang, Aolin et al.

Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 2/17/2025, Vol. 61 Issue 1, p1-10. 10p.

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

Unraveling the role of NOG gene in hereditary sensory neuropathy type 1F through CRISPR/Cas9-mediated ATL3 knockout.

Authors: Saffar, Mahsa Dara, Mahintaj Fazelzadeh Haghighi, Maryam et al.

Source: Egyptian Journal of Medical Human Genetics. 3/7/2025, Vol. 26 Issue 1, p1-8. 8p.

Nonsense-mediated mRNA decay: a key regulatory system engaged in cancer.

Authors: Pan, Hongyu Wu, Xinyu Hu, Bingshuang et al.

Source: Cell Communication & Signaling. 11/11/2025, Vol. 23 Issue 1, p1-18. 18p.

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough.

Authors: Miao, Kathleen L. Huynh, Ryan Woodley, David et al.

Source: Cells (2073-4409). Aug2025, Vol. 14 Issue 15, p1215. 19p.

A Charcot-Marie-Tooth-Causing Mutation in HSPB1 Decreases Cell Adaptation to Repeated Stress by Disrupting Autophagic Clearance of Misfolded Proteins.

Authors: Zhang, Xuelian Qiao, Yaru Han, Ronglin et al.

Source: Cells (2073-4409). Sep2022, Vol. 11 Issue 18, pN.PAG-N.PAG. 16p.

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

Readthrough Activators and Nonsense-Mediated mRNA Decay Inhibitor Molecules: Real Potential in Many Genetic Diseases Harboring Premature Termination Codons.

Authors: Benslimane, Nesrine Loret, Camille Chazelas, Pauline et al.

Source: Pharmaceuticals (14248247). Mar2024, Vol. 17 Issue 3, p314. 29p.

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

Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Authors: Bagaria, Jaya Bagyinszky, Eva An, Seong Soo A.

Source: International Journal of Molecular Sciences. Jan2022, Vol. 23 Issue 1, p552. 1p.

Research progress of kinesin family in neurological diseases.

Authors: Liu S Chen J Shi L et al.

Source: Frontiers in cellular neuroscience [Front Cell Neurosci] 2025 Sep 02; Vol. 19, pp. 1527305. Date of Electronic Publication: 2025 Sep 02 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477935 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5102 (Print) Linking ISSN: 16625102 NLM ISO Abbreviation: Front Cell Neurosci Subsets: PubMed not MEDLINE

Amyotrophic Lateral Sclerosis: Focus on Cytoplasmic Trafficking and Proteostasis.

Authors: Ms S Banerjee S D'Mello SR et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 Aug; Vol. 62 (8), pp. 10091-10117. Date of Electronic Publication: 2025 Apr 03.

Publication Type: Journal Article; Review

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 8900963 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1182 (Electronic) Linking ISSN: 08937648 NLM ISO Abbreviation: Mol Neurobiol 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

Development of translational read-through-inducing drugs as novel therapeutic options for patients with Fanconi anemia.

Authors: Hristodor AM Cappelli E Baldisseri E et al.

Source: Cell death discovery [Cell Death Discov] 2025 Jun 21; Vol. 11 (1), pp. 286. Date of Electronic Publication: 2025 Jun 21.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov 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

Genetic Landscape of SH3TC2 variants in Russian patients with Charcot-Marie-Tooth disease.

Authors: Shchagina O Murtazina A Chausova P et al.

Source: Frontiers in genetics [Front Genet] 2024 Jun 06; Vol. 15, pp. 1381915. Date of Electronic Publication: 2024 Jun 06 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.

Authors: Yu K Dou J Huang W et al.

Source: Clinical genetics [Clin Genet] 2022 Dec; Vol. 102 (6), pp. 503-516. Date of Electronic Publication: 2022 Sep 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.

Authors: Record CJ Pipis M Skorupinska M et al.

Source: Brain : a journal of neurology [Brain] 2024 Sep 03; Vol. 147 (9), pp. 3144-3156.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE