Search Results - "Galassi Deforie V"

Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement.

Authors: Galassi Deforie V Maroofian R Karagoz I et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 May; Vol. 28 (5), pp. 102551. Date of Electronic Publication: 2026 Mar 17.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants.

Authors: Lu, Jinfeng Toro, Camilo Adams, David R. et al.

Source: BMC Genomics. 1/26/2024, Vol. 25 Issue 1, p1-22. 22p.

Computational Short Tandem Repeat Genotyping Reveals Clinically Relevant Expansions in a Large Turkish Neurodegeneration Disease Cohort †.

Authors: Khojakulov, Zakhiriddin Palvadeau, Robin J. Kovancılar-Koç, Müge et al.

Source: International Journal of Molecular Sciences. May2026, Vol. 27 Issue 10, p4345. 18p.

Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias.

Authors: Tortoriello, Silvia Rossi, Simona Della Valle, Ilaria et al.

Source: Cells (2073-4409). Aug2026, Vol. 15 Issue 15, p1411. 25p.

Epidemiological report and diagnostic approach used in the neuromuscular population of Liege, Belgium.

Authors: Mouraux, Charlotte Dangouloff, Tamara Poleur, Margaux et al.

Source: Orphanet Journal of Rare Diseases. 8/29/2025, Vol. 20 Issue 1, p1-10. 10p.

CAG n Polymorphic Locus of Androgen Receptor (AR) Gene in Russian Infertile and Fertile Men.

Authors: Chernykh, Vyacheslav Solovova, Olga Sorokina, Tatyana et al.

Source: International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 22, p12183. 12p.

Comprehensive Characterisation of the RFC1 Repeat in an Australian Cohort.

Authors: Davies KC Rafehi H Fearnley LG et al.

Source: Cerebellum (London, England) [Cerebellum] 2025 Jun 07; Vol. 24 (4), pp. 111. Date of Electronic Publication: 2025 Jun 07.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE

CANVAS-related RFC1 mutations in patients with immune-mediated neuropathy.

Authors: Hirano, Makito Kuwahara, Motoi Yamagishi, Yuko et al.

Source: Scientific Reports. 11/18/2023, Vol. 13 Issue 1, p1-6. 6p.

Increased frequency of repeat expansion mutations across different populations.

Authors: Ibañez K Jadhav B Zanovello M et al.

Source: Nature medicine [Nat Med] 2024 Nov; Vol. 30 (11), pp. 3357-3368. Date of Electronic Publication: 2024 Oct 01.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

ONT in Clinical Diagnostics of Repeat Expansion Disorders: Detection and Reporting Challenges.

Authors: Kaplun, Ludmila Krautz-Peterson, Greice Neerman, Nir et al.

Source: International Journal of Molecular Sciences. Mar2025, Vol. 26 Issue 6, p2725. 20p.

Pharmacological Actions of Potassium Channel Openers on Voltage-Gated Potassium Channels.

Authors: McCoy, Michael T. Ladenheim, Bruce Cadet, Jean Lud et al.

Source: Pharmaceuticals (14248247). Oct2025, Vol. 18 Issue 10, p1446. 17p.

Corticospinal conduction in RFC1-related disease: a transcranial magnetic stimulation study.

Authors: Gajate-García V Fenollar-Cortés M Alonso-Frech F et al.

Source: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2026 Aug 05; Vol. 47 (8). Date of Electronic Publication: 2026 Aug 05.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE

An Updated Canvas of the RFC1-mediated CANVAS (Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome).

Authors: Shukla S Gupta K Singh K et al.

Source: Molecular neurobiology [Mol Neurobiol] 2025 Jan; Vol. 62 (1), pp. 693-707. Date of Electronic Publication: 2024 Jun 19.

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

Head impulse testing in bilateral vestibulopathy in patients with genetically defined CANVAS.

Authors: Borsche, Max Tadic, Vera König, Inke R. et al.

Source: Brain & Behavior. Jun2022, Vol. 12 Issue 6, p1-5. 5p.

Variability in the Results of Vestibular Assessment in Patients with Genetically Confirmed Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.

Authors: Fernandez-Rueda, María García-Fernández, Alfredo Jesús De Vergas-Gutiérrez, Joaquín

Source: Journal of International Advanced Otology. Sep2023, Vol. 19 Issue 5, p383-387. 5p.

Impact of the intronic RFC1 expansion size in CANVAS phenotype: an oculomotor study.

Authors: Dupré M Hermann R Vidoni L et al.

Source: Journal of neurology [J Neurol] 2025 Jun 03; Vol. 272 (6), pp. 442. Date of Electronic Publication: 2025 Jun 03.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Possible mechanisms connecting cerebellar ataxias and bilateral vestibular weakness: diagnostic and therapeutic implications.

Authors: Cherchi M; Department of Neurology, University of Chicago, Chicago, IL, USA. marcello.cherchi@bsd.uchicago.edu.

Source: Journal of neurology [J Neurol] 2024 Dec 12; Vol. 272 (1), pp. 14. Date of Electronic Publication: 2024 Dec 12.

Publication Type: Letter

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE; In Process

Optical Genome Mapping for Applications in Repeat Expansion Disorders.

Authors: van der Sanden B Neveling K Pang AWC et al.

Source: Current protocols [Curr Protoc] 2024 Jul; Vol. 4 (7), pp. e1094.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101773894 Publication Model: Print Cited Medium: Internet ISSN: 2691-1299 (Electronic) Linking ISSN: 26911299 NLM ISO Abbreviation: Curr Protoc Subsets: MEDLINE

Characterization of a chronic cough in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.

Authors: Tatineni, Swetha Jarrouj, George Gomez, Christopher M. et al.

Source: Laryngoscope Investigative Otolaryngology. Jun2023, Vol. 8 Issue 3, p730-738. 9p.

Targeting Ion Channels and Purkinje Neuron Intrinsic Membrane Excitability as a Therapeutic Strategy for Cerebellar Ataxia.

Authors: Huang, Haoran Shakkottai, Vikram G.

Source: Life (2075-1729). Jun2023, Vol. 13 Issue 6, p1350. 23p.