Results 61 to 70 of about 42,506 (235)

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]

, 2013
A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core  

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

Annals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov, Ivana Dzinovic, Theresa Brunet, Vicente A. Yépez, Florian Hölzlwimmer, Elisabetta Indelicato, Birgit Assmann, Susann Badmann, Diana Ballhausen, Steffen Berweck, Felix Brechtmann, Melanie Brugger, Kevork Derderian, Felix Distelmaier, Philip Harrer, Denisa Harvanova, Petra Havrankova, Ann‐Kathrin Jaroszynski, Miriam Kolnikova, Robert Kopajtich, Anne Koy, Magdalena Krygier, Lukas Kunc, Katarina Kusikova, Oliver Maier, Maria Mazurkiewicz‐Bełdzińska, Christian Mertes, Ava Oberlack, Timo Roser, Alexandra Sitzberger, Ugo Sorrentino, Antonia M. Stehr, Katharina Vill, Matias Wagner, Holger Prokisch, Sylvia Boesch, Jan Necpal, Robert Jech, Juliane Winkelmann, Elisabeth Graf, Julien Gagneur, Matej Skorvanek, Michael Zech   +42 more
wiley   +1 more source

Progressive ataxia with oculo-palatal tremor and optic atrophy [PDF]

, 2013
The final publication is available at Springer via doi: 10.​1007/​s00415-013-7136-
A. M. Bronstein, C Morgia, C. Everett, E Storey, G Deuschl, I. Peppas, K. Schmierer, KK Johansen, KL Howard, LI Lopez, M Samuel, M. M. Papachatzaki, N. Ali, P Amati-Bonneau, Q. Arshad, RK Naviaux, S Stricker, S. Cader   +17 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Spinocerebellar ataxia 17: Inconsistency between phenotype and neuroimage findings

Annals of Indian Academy of Neurology, 2013
Spinocerebellar ataxia 17 (SCA17) is an autosomal dominant neurodegenerative disease clinically characterized by the presence of cerebellar ataxia in combination with variable neurological symptoms.
Jin Zhang, Weihong Gu, Ying Hao, Yuanyuan Chen   +3 more
doaj   +1 more source

TDP2 promotes repair of topoisomerase I-mediated DNA damage in the absence of TDP1 [PDF]

, 2012
The abortive activity of topoisomerases can result in clastogenic and/or lethal DNA damage in which the topoisomerase is covalently linked to the 3'- or 5'-terminus of a DNA strand break. This type of DNA damage is implicated in chromosome translocations
Abhishek Sharma, Barthelmes, Danny Huylebroeck, Davies, Davies, El-Khamisy, El-Khamisy, El-Khamisy, El-Khamisy, Esguerra, Giovanella, Hirano, Hudson, Interthal, Interthal, Junko Murai, Katyal, Keith W. Caldecott, Ledesma, Liesbeth Vermeire, Lieve Umans, Limei Ju, Murai, Nitiss, Pommier, Pommier, Pype, Sherif F. El-Khamisy, Shunichi Takeda, Takashima, Varady, Vilotti, Yang, Yves Pommier, Zeng, Zhihong Zeng, Zhou   +36 more
core   +1 more source

Spinocerebellar ataxia type 31

Rinsho Shinkeigaku, 2010
Spinocerebellar ataxia type 31 (SCA31) is a relatively common degenerative ataxia in Japan. We recently discovered SCA31 mutation as a complex pentanucleotide repeat containing (TAAAA)(n), (TAGAA)(n), and (TGGAA)(n). The size of this repeat ranged from 2.8 to 3.5 kilo-base pairs (kb).
Kinya, Ishikawa, Nozomu, Sato, Yusuke, Niimi, Takeshi, Amino, Hidehiro, Mizusawa   +4 more
openaire   +3 more sources

The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis

Movement Disorders Clinical Practice, EarlyView.
ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan, Seyed‐Mohammad Fereshtehnejad, Christos Ganos, Emily Swinkin, Anthony E. Lang   +4 more
wiley   +1 more source