Search Results - "Turchetti V"

Endothelium and hemorheology.

Authors: Turchetti, V. Boschi, L. Donati, G. et al.

Source: Clinical Hemorheology & Microcirculation. 2004, Vol. 30 Issue 3-4, p289-295. 7p.

Haemorheological and endothelial-dependent alterations in heart failure after ACE inhibitor, calcium antagonist and β blocker.

Authors: Turchetti, V. Bellini, M.A. Boschi, L. et al.

Source: Clinical Hemorheology & Microcirculation. 2002, Vol. 27 Issue 3-4, p209. 10p.

Spontaneous echo-contrast as an in vivo indicator of rheological imbalance in dilatative cardiomyopathy.

Authors: Turchetti, V. Bellini, M.A. Ricci, D. et al.

Source: Clinical Hemorheology & Microcirculation. 2001, Vol. 25 Issue 3-4, p119. 7p.

Blood viscosity and red cell morphology in subjects suffering from cirrhosis before and after treatment with S-Adenosyl-L-Methionine (SAM).

Authors: Turchetti, V. Bellini, M.A. Leoncini, F. et al.

Source: Clinical Hemorheology & Microcirculation. 2000, Vol. 22 Issue 3, p215. 7p.

Evaluation of hemorheological parameters and red cell morphology in hypertension.

Authors: Turchetti, V. Bellini, M.A. Guerrini, M. et al.

Source: Clinical Hemorheology & Microcirculation. 1999, Vol. 21 Issue 3-4, p285. 5p.

Phenotypic expansion and structural analysis of the IQSEC2 p.Asp894Asn variant in a consanguineous Pashtun family.

Authors: Ayaz M Khan I Ahmed S et al.

Source: Neurogenetics [Neurogenetics] 2026 Jun 29; Vol. 27 (1). Date of Electronic Publication: 2026 Jun 29.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.

Authors: Di Pasquale G Colella J Di Cataldo CP et al.

Source: Frontiers in cellular neuroscience [Front Cell Neurosci] 2025 Sep 25; Vol. 19, pp. 1664953. Date of Electronic Publication: 2025 Sep 25 (Print Publication: 2025).

Publication Type: Journal Article

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

A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family.

Authors: Akram R Anwar H Muzaffar H et al.

Source: Genes [Genes (Basel)] 2024 Sep 13; Vol. 15 (9). Date of Electronic Publication: 2024 Sep 13.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.

Authors: Sidpra J Sudhakar S Biswas A et al.

Source: Brain : a journal of neurology [Brain] 2024 Aug 01; Vol. 147 (8), pp. 2775-2790.

Publication Type: Journal Article; Observational Study; Multicenter Study

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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Authors: Dominik N Efthymiou S Record CJ et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 14; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2025).

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

TDP-43 pathology induces CD8⁺ T cell activation through cryptic epitope recognition.

Authors: Chizari S Zanovello M Kong S et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2025 Jul 14. Date of Electronic Publication: 2025 Jul 14.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Authors: Liu Z Xin B Smith IN et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Oct 04; Vol. 32 (20), pp. 2981-2995.

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

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Authors: Gracia-Diaz C Zhou Y Yang Q et al.

Corporate Authors: Gracia-Diaz C Zhou Y Yang Q et al.

Source: Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.

Authors: Efthymiou S Leo CP Deng C et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 May 01; Vol. 112 (5), pp. 1117-1138. Date of Electronic Publication: 2025 Apr 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia.

Authors: Kaiyrzhanov R Zharkinbekova N Guliyeva U et al.

Source: Nature genetics [Nat Genet] 2024 Dec; Vol. 56 (12), pp. 2582-2584.

Publication Type: Letter

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Authors: Armirola-Ricaurte C Zonnekein N Koutsis G et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. Date of Electronic Publication: 2024 Mar 06.

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

Analysis of C9orf72 repeat expansions in Georgian patients with Amyotrophic lateral sclerosis (ALS).

Authors: Kekenadze M Rocca C Turchetti V et al.

Source: F1000Research [F1000Res] 2024 Mar 06; Vol. 12, pp. 1113. Date of Electronic Publication: 2024 Mar 06 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: F1000 Research Ltd Country of Publication: England NLM ID: 101594320 Publication Model: eCollection Cited Medium: Internet ISSN: 2046-1402 (Electronic) Linking ISSN: 20461402 NLM ISO Abbreviation: F1000Res Subsets: MEDLINE

Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn.

Authors: Efthymiou S Novis LE Koutsis G et al.

Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2023 Oct; Vol. 10 (10), pp. 1910-1916. Date of Electronic Publication: 2023 Aug 08.

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

Journal Info: Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2328-9503 (Electronic) Linking ISSN: 23289503 NLM ISO Abbreviation: Ann Clin Transl Neurol Subsets: MEDLINE

Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder.

Authors: Pauly MG Brüggemann N Efthymiou S et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2023 Jan 18; Vol. 24 (3). Date of Electronic Publication: 2023 Jan 18.

Publication Type: Review; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Evaluation of a torsional-vibrating technique for the hemorheological characterization.

Authors: Travagli V Zanardi I Boschi L et al.

Source: Clinical hemorheology and microcirculation [Clin Hemorheol Microcirc] 2006; Vol. 35 (1-2), pp. 283-9.

Publication Type: Evaluation Study; Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 9709206 Publication Model: Print Cited Medium: Print ISSN: 1386-0291 (Print) Linking ISSN: 13860291 NLM ISO Abbreviation: Clin Hemorheol Microcirc Subsets: MEDLINE