Results 151 to 160 of about 80,232 (259)

Changes in Gait After Training for Individuals With Cerebellar Ataxia. [PDF]

Arch Rehabil Res Clin Transl
Smani A, Lee S, Spinner M, Barbuto S.
europepmc   +1 more source

Rapid generation of prion disease models using AAV‐delivered PrP variants in knockout mice

Brain Pathology, EarlyView.
We developed a rapid AAV‐based system to generate prion disease models in weeks rather than months. Following systemic AAV9P31 delivery of modified PrP to knockout mice, we achieved brain‐wide expression and successful propagation of both classical (RML) and atypical (GSS‐A117V) prion strains.
Maitena San‐Juan‐Ansoleaga, Eva Fernández‐Muñoz, Jorge M. Charco, Enric Vidal, Diego Herrero‐Martínez, Josu Galarza‐Ahumada, Cristina Sampedro‐Torres‐Quevedo, Samanta Giler, Mariví Geijo, Gloria González‐Aseguinolaza, Hasier Eraña, Joaquín Castilla   +11 more
wiley   +1 more source

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS). [PDF]

Arq Neuropsiquiatr
Bronstein AM.
europepmc   +1 more source

The L108I polymorphism in mouse prion protein drives spontaneous disease and enhances transmission of atypical and classical prion strains

Brain Pathology, EarlyView.
A single amino acid change (L108I) combined with PrP overexpression drives spontaneous atypical prion formation in mice, enabling also efficient propagation of diverse prion strains. This model allows studying how spontaneous prion diseases arise and provides powerful tools for investigating strain emergence, transmission barriers, and mechanisms ...
Hasier Eraña, Enric Vidal, Natalia Fernández‐Borges, Jorge M. Charco, Carlos M. Díaz‐Domínguez, Cristina Sampedro‐Torres‐Quevedo, Josu Galarza‐Ahumada, Eva Fernández‐Muñoz, Maitena San‐Juan‐Ansoleaga, Miguel Ángel Pérez‐Castro, Nuno Gonçalves‐Anjo, Patricia Piñeiro, Samanta Giler, Nora González‐Martín, Nuria L. Lorenzo, Africa Manero‐Azua, Guiomar Perez de Nanclares, Mariví Geijo, Manuel A. Sánchez‐Martín, Jesús R. Requena, Joaquín Castilla   +20 more
wiley   +1 more source

Improvement of <i>Mycoplasma pneumoniae</i>-Associated Acute Cerebellar Ataxia and Possible Encephalopathy After Intravenous Immunoglobulin. [PDF]

Case Rep Infect Dis
Ruff K, Douvoyiannis M.
europepmc   +1 more source

Dissociating role of Bassoon in glutamatergic and dopaminergic neurons in alcohol‐related behaviour and affective state in mice

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Alcohol abuse and affective disorders are severe comorbid psychiatric diseases characterized by impaired brain synaptic transmission. The role of presynaptic scaffolding proteins coordinating presynaptic plasticity and neurotransmitter release, such as Bassoon (Bsn), in the pathogenesis of these disorders remains elusive.
Liubov S. Kalinichenko, Mona Krenbauer, Janosh Isert, Marlon Kamlah, Thorben Tanzer, Hannes Rödel, Tobias Müller, Anil Annamneedi, Enes Yağız Akdaş, Volker Eulenburg, Bernd Lenz, Eckart D. Gundelfinger, Johannes Kornhuber, Anna Fejtova, Christian P. Müller   +14 more
wiley   +1 more source

Correction: Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia. [PDF]

Mol Neurobiol
Bellia F, Amodei L, Ruggieri AG, Potenza F, Viele M, Bomba M, Del Pizzo F, Iezzi M, Granzotto A, Federici L, Sallese M.   +10 more
europepmc   +1 more source

The Importance of Neuropathology in a Complex Movement Disorder with Primary Familial Brain Calcification

Movement Disorders, EarlyView.
Ida Gugler, Per Svenningsson, Inger Nennesmo, Martin Paucar   +3 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Kalampokini S, Keramidiotis I, Ravanidis S, Lochner P, Kimiskidis VK, Hadjigeorgiou GM.   +5 more
europepmc   +1 more source