Results 61 to 70 of about 114,557 (289)

DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1 [PDF]

, 2007
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs).
Arnaudeau, Avemann, Barzilai, Bendixen, Caldecott, Caldecott, Cheng, Chrencik, Christiansen, Clements, Connelly, Culmsee, Daroui, Date, Davies, Davies, Davies, de Boer, Deng, D’Arpa, El-Khamisy, Flangas, Furuta, Godthelp, Hinz, Holm, Horwitz, Hsiang, Inamdar, Interthal, Interthal, Interthal, K.W. Caldecott, Kroeger, Lanza, Lesher, Liao, Lindahl, Liu, Mol, Moreira, Morris, Nitiss, Nouspikel, O’Driscoll, Parsons, Plo, Pommier, Pommier, Pommier, Poot, Pouliot, Pouliot, Pourquier, Pourquier, Pourquier, Pourquier, Pourquier, Rideout, Ryan, Ryan, S.F. El-Khamisy, Sarkander, Sarkander, Shao, Stewart, Strumberg, Takashima, Taylor, Thompson, van Waardenburg, Vance, Vidal, Vierck, Wang, Whitehouse, Wilson, Wu, Wu, Yan, Yang, Zhou, Zhou   +82 more
core   +1 more source

Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report

Journal of Medical Case Reports, 2019
Background Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia.
Laura Levantesi, Germano De Cosmo, Giandomenico Logroscino, Michela Saracco   +3 more
doaj   +1 more source

Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy

Journal of Pharmacological Sciences, 2009
Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe, Tomoharu Nakano, Motoko Honda, Hideki Ono   +3 more
doaj   +1 more source

Purkinje Cell Loss in Essential Tremor: Collective Data From 215 Brains Over a 21‐Year Period

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Essential tremor is a highly prevalent movement disorder. Pathological changes observed in essential tremor cerebella center around Purkinje cells and neighboring neuronal populations. Postmortem studies have variably, but not always, shown reduced Purkinje cell counts in essential tremor compared to controls.
Chloë A. Kerridge, Roberto S. Hernandez, Nora C. Hernandez, Phyllis L. Faust, Elan D. Louis   +4 more
wiley   +1 more source

Spinocerebellar ataxia-type 34: A case report and brief review of the literature

Radiology Case Reports, 2023
Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins.
Vivek Batheja, MD, Morgan Fish, DO, Aneri B. Balar, MD, Siddhi Hedge, MBBS, Jeffery P. Hogg, MD, FACR, Dhairya A. Lakhani, MD, Musharaf Khan, DO   +6 more
doaj   +1 more source

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia [PDF]

, 2006
Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds.
Coutinho, P., Cruz, V., Guimarães, J., Silva, S., Tuna, A.   +4 more
core  

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Increased sexual arousal in patients with movement disorders

Arquivos de Neuro-Psiquiatria, 2016
Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders.
Hélio A. G. Teive, Adriana Moro, Mariana Moscovich, Renato P. Munhoz   +3 more
doaj   +1 more source

Non spontaneous saccadic movements identification in clinical electrooculography using machine learning [PDF]

, 2015
In this paper we evaluate the use of the machine learning algorithms Support Vector Machines, K-Nearest Neighbors, CART decision trees and Naive Bayes to identify non spontaneous saccades in clinical electrooculography tests.
Becerra-García, Roberto Antonio, Cuevas-Beltrán, Franger, Fernández-Higuera, Abel, García-Bermúdez, Rodolfo, García-Lagos, Francisco, Joya-Caparrós, Gonzalo, Rodríguez-Labrada, Roberto, Velázquez-Mariño, Michel, Velázquez-Rodríguez, Camilo   +8 more
core   +1 more source

Quantitative Assessment of Upper Limb Ataxia Using a Virtual Reality‐Based Evaluation System

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cerebellar ataxia impairs coordination and balance, reducing quality of life. Conventional clinical scales, including the Scale for the Assessment and Rating of Ataxia (SARA) and the International Cooperative Ataxia Rating Scale (ICARS), are widely used to assess ataxia but are limited by subjectivity and inter‐rater variability ...
Masayuki Sato, Takayuki Abe, Sho Aoki, Setsuki Tsukagoshi, Yasushi Yuminaka, Yoshio Ikeda   +5 more
wiley   +1 more source