Search Results - "Turchetti V"

Author Index Volume 25 (2001).

Source: Clinical Hemorheology & Microcirculation. 2001, Vol. 25 Issue 3-4, p175. 3p.

Author Index Volume 27 (2002).

Source: Clinical Hemorheology & Microcirculation. 2002, Vol. 27 Issue 3-4, p233. 4p.

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

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

Author Index Volume 35 (2006).

Source: Clinical Hemorheology & Microcirculation. 2006, Vol. 35 Issue 4, p531-541. 11p.

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Authors: Baris, Savas Ipek, Rojan Baris, Saniye Tugba et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 3, p1375. 11p.

Comparative Analysis of the Levels of Matrix Metalloproteinase 9, Renal and Lipid Profile between Hypertensive and Normotensive Individuals in South Indian Population.

Authors: Vasanthi, R. Rohini, B. Mahalakshmi, S. et al.

Source: Journal of Pioneering Medical Sciences. May2026, Vol. 15 Issue 5, p11-15. 5p.

Immunosenescence and Inflammaging as Drivers of Neurodegeneration: Cellular Mechanisms, Neuroimmune Crosstalk, and Therapeutic Implications.

Authors: Bertoni, Gianmarco Ristori, Sara Monti, Daniela

Source: Cells (2073-4409). Apr2026, Vol. 15 Issue 8, p657. 34p.

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

A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

Authors: Klangjorhor, Jeerawan Wiwattanadittakul, Natrujee Jaimalai, Thanapak et al.

Source: International Journal of Molecular Sciences. Mar2025, Vol. 26 Issue 6, p2790. 16p.

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants.

Authors: Kistol, Denis Tsygankova, Polina Bostanova, Fatima et al.

Source: International Journal of Molecular Sciences. May2024, Vol. 25 Issue 10, p5127. 7p.

An Intronic Heterozygous SYNE2 Splice Site Mutation: A Rare Cause for Myalgia and hyperCKemia?

Authors: Paulus, Theresa Young, Natalie Jessop, Emily et al.

Source: Muscles (2813-0413). Mar2024, Vol. 3 Issue 1, p100-109. 10p.

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

Author Index.

Source: Gynecological Endocrinology. 2004 Suppl 1, Vol. 18, p379-389. 11p.

Commentary for: a lipid scramblase TMEM41B is involved in the processing and transport of GPI-anchored proteins.

Authors: Hirayama, Hiroto¹ (AUTHOR)

Source: Journal of Biochemistry. Feb2025, Vol. 177 Issue 2, p69-71. 3p.

Translational disease modeling of peripheral blood identifies type 2 diabetes biomarkers predictive of Alzheimer's disease.

Authors: Ball, Brendan K. Park, Jee Hyun Bergendorf, Alexander M. et al.

Source: NPJ Systems Biology & Applications. 5/29/2025, Vol. 11 Issue 1, p1-16. 16p.

Deformability of Heterogeneous Red Blood Cells in Aging and Related Pathologies.

Authors: Prudinnik, Dmitry S. Kussanova, Aigul Vorobjev, Ivan A. et al.

Source: Aging & Disease. May2025, Vol. 16 Issue 3, p1242-1264. 23p.

VPS13D mutations affect mitochondrial homeostasis and locomotion in Caenorhabditis elegans.

Authors: Yin, Xiaomeng Wang, Ruoxi Thackeray, Andrea et al.

Source: G3: Genes | Genomes | Genetics. Apr2025, Vol. 15 Issue 4, p1-11. 11p.

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ERVK activity in CD8⁺ T cell immune cell compartment in patients with ALS.

Authors: Sharma S Cortés-Pérez C Bird S et al.

Source: Journal of neuroinflammation [J Neuroinflammation] 2026 May 23; Vol. 23 (1). Date of Electronic Publication: 2026 May 23.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101222974 Publication Model: Electronic Cited Medium: Internet ISSN: 1742-2094 (Electronic) Linking ISSN: 17422094 NLM ISO Abbreviation: J Neuroinflammation Subsets: MEDLINE