Results 261 to 270 of about 270,832 (337)

Biallelic Variants in SLC27A3 Cause a Complex Form of Neurodegeneration with Brain Iron Accumulation

Movement Disorders, EarlyView.
Abstract Background Complex lipid metabolism is one of the main biological pathways disrupted in neurodegeneration with brain iron accumulation (NBIA). SLC27A3 gene encodes for the very long‐chain acyl‐CoA synthetase 3, an acyl‐CoA ligase that activates long and very long‐chain fatty acids.
Lorena Travaglini, Cherim Jeon, Teresa Rizza, Antonio Novelli, Nicola Specchio, Anna Piluso, Enrico Bertini, Arcangela Iuso, Giacomo Garone   +8 more
wiley   +1 more source

Advancements in antiviral approaches against foot-and-mouth disease virus: a comprehensive review. [PDF]

Front Vet Sci
Mohamadin M, Manzoor R, Elolimy A, Abdelmegeid M, Mosad S, Abd El Rahman S.   +5 more
europepmc   +1 more source

Hand, foot and mouth disease in two Edinburgh practices, 1980.

, 1982
Aditi Mukherji, Donald MacLean
openalex  

Expanding the Genetic and Phenotypic Spectrum of DYT‐VPS16: The Importance of Splice‐Site Variants

Movement Disorders, EarlyView.
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Ana Westenberger, Edgard Verdura, Mandy Radefeldt, Leslie E. Sanderson, Kornelia Tripolszki, Anna Marcé‐Grau, Ana Cazurro‐Gutiérrez, Anita Nikoncuk, Rebecca Herzog, Ruslan Al‐Ali, Mariana Ferreira, Ligia S. Almeida, Tainá Regina Damaceno Silveira, Suliman Khan, Raphael Doyle Maia, Péter Klivényi, András Salamon, Volkan Baltaci, Asli Subasioglu, Jeanette Prada‐Arismendy, Goran Čuturilo, Sebastian Loens, Vera Tadic, Isabelle Maystadt, Deniz Karadurmus, Barbara Leube, Jonathan De Winter, Alice Monticelli, Liesbeth De Waele, Jonathan Baets, Mateja Vinkšel, Aleš Maver, Lorena Tschopp, Gabriela Ziegler, Ana Sanguinetti, Katja Lohmann, Tahsin Stefan Barakat, Peter Bauer, Belén Perez‐Dueñas, Aida M. Bertoli‐Avella   +39 more
wiley   +1 more source

Risk Factors for Hand, Foot and Mouth Disease Reinfection in Qingdao, China, from 2014 to 2022. [PDF]

Iran J Public Health
Xin X, Jia J, Zhai H, Wang W, Meng Z, Sun L, Wang X, Dong L.   +7 more
europepmc   +1 more source

A New Phenotype–Genotype Correlation for FIG4 and Parkinson's Disease

Movement Disorders Clinical Practice, EarlyView.
Iro Boura, Panayiotis Mitsias, Sofia Erimaki, Efrosini Papadaki, Cleanthe Spanaki   +4 more
wiley   +1 more source

Parkinson's‐Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa

Movement Disorders, EarlyView.
Abstract Background Peripheral disease mechanisms such as immune dysregulation may contribute to Parkinson's disease (PD). To investigate interactions between common PD mutations and immune responses to environmental pathogens, we studied responses to Pseudomonas aeruginosa (P.
Julian R. Mark, Hannah A. Staley, Ann M. Titus, Julian Agin‐Liebes, Alicia Garrido, Laura Hughes, Nicolas Dzamko, Rebecca L. Wallings, Malú Gámez Tansey   +8 more
wiley   +1 more source

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14‐Associated Neurodegeneration: A Case Report and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Rebecca Lindsay, Sangeetha Yoganathan, Wei Kang Lim, Pradeep Krishnan, Asif Doja, Sunita Venkateswaran, Julie Richer, Sara Breitbart, Nicole S.Y. Liang, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +11 more
wiley   +1 more source

‘What's in a Name?’ Naming Genetically Determined Movement Disorders: Gap and Controversy

Movement Disorders, EarlyView.
Abstract In 2016, the International Parkinson and Movement Disorder Society (MDS) Task Force for Genetic Nomenclature in Movement Disorders laid out a new proposal for naming genetically determined movement disorders. This proposal sought to address the difficulties arising from the practical usage of numbered loci (eg, DYT1, DYT2, DYT3, etc.) as names
Connie Marras, Alberto Albanese, Mark Hallett, Christine Klein, Katja Lohmann, the Genetic Nomenclature in Movement Disorders Study Group Steering Committee, Christos Ganos, Sarah Camargos, Anthony E. Lang, Darius Ebrahimi‐Fakhari, Claudia Del Gamba, Bart van de Warrenburg, Lakshya Basumatary, Lara Lange, Diana Olszewska, Zhidong Cen, Kishore Kumar, Mohamed Zahir, Carolyn Sue, H.A. Jinnah   +19 more
wiley   +1 more source

CD44 mediates the internalization of foot-and-mouth disease virus through macropinocytosis. [PDF]

Vet Res
Wang X, Dong H, Wu J, Zhang Y, Sun S, Guo H.   +5 more
europepmc   +1 more source