1
CLN6‐related continuum phenotype caused by aberrant splicing

von Federica Invernizzi ; Barbara Castellotti ; Chiara Reale ; et al.

Epilepsia Open, Vol 10, Iss 1, Pp 348-354 (2025)

Schlagworte: Kufs' disease; neuronal ceroidlipofuscinosis; occipital seizures; photoparoxysmal response; progressive myoclonus epilepsy; Neurology. Diseases of the nervous system; RC346-429
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2
Gender differences in non-motor symptoms in Parkinson’s disease: a multicenter longitudinal study

von Cuoco, Sofia ; Russo, Michela ; Picillo, Marina ; et al.

Neurological Sciences. 47(5)
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3
Modelling past and future demography of silver fir forests affected by dieback through genomic and dendroecological timelines

von García-García, Isabel ; Horreo, Jose Luis ; Méndez-Cea, Belén ; et al.

In Science of the Total Environment 10 October 2025 998
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4
Experimental Investigation of Rheological Properties of Coconut Oil-Graphene Oxide Nanocomposites

von Jebali, Meriem ; Gómez-Merino, Ana Isabel ; Colangelo, Gianpiero ; et al.

Proceedings of the Iberian Meeting on Rheology (IBEREO 2024). 56:177-180
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5
Influence of the lemon (Citrus Limon L.) juice amount on the green synthesis of CuO nanoparticles: Characterization, stability and thermal conductivity

von Jebali, Meriem ; Gómez-Merino, Ana Isabel ; Colangelo, Gianpiero

In Ceramics International January 2025 51(1):72-84
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6
Revealing legacy effects of extreme droughts on tree growth of oaks across the Northern Hemisphere

von Bose, Arun K. ; Doležal, Jiri ; Scherrer, Daniel ; et al.

In Science of the Total Environment 20 May 2024 926
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7
WCN25-2797 Multicenter Randomized Trial Investigating the Efficacy of the NORA-App in Diabetic Kidney Disease Patients

von Nestor Toapanta ; Giorgio Colangelo ; Carolina Movilla ; et al.

Kidney International Reports, Vol 10, Iss 2, Pp S302-S303 (2025)

Schlagworte: Diseases of the genitourinary system. Urology; RC870-923
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8
Sex distribution and classification of GBA1 variants in an Italian cohort of Parkinson's disease patients analyzed over the last seventeen years

von Panteghini, Celeste ; Reale, Chiara ; Colangelo, Isabel ; et al.

In Parkinsonism and Related Disorders December 2023 117
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9
Weak genetic differentiation but strong climate-induced selective pressure toward the rear edge of mountain pine in north-eastern Spain

von Méndez-Cea, Belén ; García-García, Isabel ; Gazol, Antonio ; et al.

In Science of the Total Environment 1 February 2023 858 Part 2
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10
The surgical safety checklist and patient outcomes after surgery: a prospective observational cohort study, systematic review and meta-analysis

von Pearse, Rupert M. ; Beattie, Scott ; Clavien, Pierre-Alain ; et al.

In British Journal of Anaesthesia January 2018 120(1):146-155
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11
Functional analysis of human GCH1 variants using Saccharomyces cerevisiae as a model system

von Sofia Troglia ; Chiara Reale ; Isabel Colangelo ; et al.

Schlagworte: GCH1; FOL2; Saccharomyces cerevisiae; Parkinson’s disease; dopa-responsive dystonia; genetics; molecular neuroscience; molecular biology; genetic engineering; microbiology; Settore BIOS-14/A - Genetica; Settore BIOS-08/A - Biologia molecolare; Settore BIOS-15/A - Microbiologia
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12
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13
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14
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia

von Federica Invernizzi ; Rossella Izzo ; Isabel Colangelo ; et al.

Genes ; Volume 14 ; Issue 7 ; Pages: 1393

Schlagworte: hyperCKemia; creatine kinase; rhabdomyolysis; skeletal muscle damage; Next Generation Sequencing (NGS); myoglobinuria
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15
Safety and equity in scaling minimally invasive surgery worldwide in 109 countries using cholecystectomy as a tracer procedure: a prospective cohort study

von Kamarajah, Sivesh K ; Kouli, Omar ; Ng, Wee Han ; et al.
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16
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17
Genome Aggregation Database Version 4—New Challenges of Variant Analysis in Movement Disorders

von Indelicato, Elisabetta ; Romito, Luigi Michele ; Harrer, Philip ; et al.

Movement Disorders ; volume 39, issue 7, page 1237-1238 ; ISSN 0885-3185 1531-8257
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18
Childhood‐Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report

von Danti, Federica Rachele ; Sarmiento, Ignacio Juan Keller ; Moloney, Patrick B. ; et al.

Movement Disorders ; volume 39, issue 4, page 747-749 ; ISSN 0885-3185 1531-8257
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19
Critical care admission following elective surgery was not associated with survival benefit: prospective analysis of data from 27 countries

von Kahan ; Koulenti, Desponia ; Arvaniti, Kostoula ; et al.

Intensive Care Medicine. :1-9
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20
Green Synthesis, Characterization, and Empirical Thermal Conductivity Assessment of ZnO Nanofluids for High-Efficiency Heat-Transfer Applications

von Meriem Jebali ; Gianpiero Colangelo ; Ana Isabel Gómez-Merino ; et al.

Schlagworte: green synthesis; nanofluids; thermal conductivity; ZnO
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21
Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study

von Di Fonzo, Alessio ; Percetti, Marco ; Monfrini, Edoardo ; et al.

Schlagworte: EOPD; Parkinson's disease; gene panel; next-generation sequencing; variant classification
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22
Single-photon detection using high-temperature superconductors

von Charaev, Ilya ; Bandurin, Denis ; Bollinger, Antony ; et al.
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23
Weak genetic differentiation but strong climate-induced selective pressure toward the rear edge of mountain pine in north-eastern Spain

von Universidad Complutense de Madrid ; Gobierno de Aragón ; European Commission ; et al.

Schlagworte: Rear edge; Treeline; Selection signature; Genotype-environment associations; Genotype-phenotype associations; Risk of non-adaptedness; artículo
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24
ACTB gene mutation in combined Dystonia-Deafness syndrome with parkinsonism: Expanding the phenotype and highlighting the long-term GPi DBS outcome

von Straccia, Giulia ; Reale, Chiara ; Castellani, Massimo ; et al.

In Parkinsonism and Related Disorders November 2022 104:3-6
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25
O conceito de intervencionismo em Economia: uma análise discursiva a partir de artigos científicos ; The concept of interventionism in Economy: a discursive analysis based on scientific articles

von Santos, Isabel Cristina Pereira dos ; Barros, Thiago Henrique Bragato ; Salomão, Ivan Colangelo

Schlagworte: Intervention; Interventionism; Scientific article; Corpus Linguistics; Discourse Analysis; Produção científica; Análise do discurso
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