Results 61 to 70 of about 15,463 (269)

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

Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. [PDF]

, 2016
Spinocerebellar ataxia type-3 (SCA-3) is a rare disease but it is the most frequent type within the autosomal dominant inherited ataxias. The disease lacks an effective treatment to alleviate major symptoms and to modify disease progression.
Fernández Ruiz, José Javier, García García, Luis, García-García, Luis, Gómez Ruiz, María Sagrario, Hernández-Gálvez, Mariluz, Hillard, Cecilia J., Maciel, Patricia, Pozo García, Miguel Ángel, Ramos Atance, José Antonio, Rodríguez Cueto, Carmen Aurora, Valdeolivas, Sara   +10 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

Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

Arquivos de Neuro-Psiquiatria, 2012
Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease.
José Luiz Pedroso, Pedro Braga-Neto, João Radvany, Orlando Graziani Povoas Barsottini   +3 more
doaj   +1 more source

Integrative approach improves fall risk and postural stability in spinocerebellar ataxia-2 – A case report

International Journal of Yoga, 2022
Spinocerebellar ataxias (SCAs) comprise a large heterogeneous group of autosomal dominant cerebellar ataxias. Despite availability of various conventional treatments, reducing disability and improving the quality of life is a challenge in this condition.
Kavyashree Kulamarva, Umesh Chikkanna, Kishore Kumar Ramakrishna, Hemant Bhargav, Selva Ganapathy Velayutham, Shivarama Varambally   +5 more
doaj   +1 more source

Two New Cases of Uner Tan Syndrome: One Man\ud with Transition from Quadrupedalism to Bipedalism;\ud One Man with Consistent Quadrupedalism [PDF]

, 2010
Background: Uner Tan syndrome, first described in\ud 2005, consists of three main symptoms: habitual\ud locomotion on all four extremities, impaired\ud intelligence, and dysarthric or no speech.
Tan, Prof. Dr. Uner
core  

Altered striatal endocannabinoid signaling in a transgenic mouse model of spinocerebellar ataxia type-3 [PDF]

, 2017
Spinocerebellar ataxia type-3 (SCA-3) is the most prevalent autosomal dominant inherited ataxia. We recently found that the endocannabinoid system is altered in the post-mortem cerebellum of SCA-3 patients, and similar results were also found in the ...
A Arevalo-Martin, A Durr, A Matilla-Dueñas, A Richter, A Silva-Fernandes, AH Chou, AH Koeppen, C Blázquez, C Bonnet, C Rodríguez-Cueto, C Rodríguez-Cueto, C Rodríguez-Cueto, Carmen Rodríguez-Cueto, Cecilia J. Hillard, D Moris, David R Borchelt, E Shohami, F Espejo-Porras, FR Fusco, H Jacobi, H Paulson, HC Jabusch, J Fernández-Ruiz, J Fernández-Ruiz, J Fernández-Ruiz, J Fernández-Ruiz, J Fernández-Ruiz, J Palazuelos, Javier Fernández-Ruiz, JD Fratkin, José A. Ramos, K Seidel, K Seidel, KL Eskow Jaunarajs, Mariluz Hernández-Gálvez, María Gómez-Ruiz, N Maroof, O Riess, O Sagredo, P Filip, Patricia Maciel, S Alves, S Lehéricy, S Patel, Sara Valdeolivas, T Bisogno, T Klockgether, U Rüb, V Di Marzo, Y Gómez-Gálvez, Y Murata, Y Yiangou   +51 more
core   +2 more sources

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

Cerebellar ataxias and functional movement disorders: navigating clinical overlap

BMJ Neurology Open
Background Functional movement disorders (FMDs) are commonly classified along canonical non-ataxic movement disorder patterns, creating a potential blind spot for frequently observed ataxia-like presentations. At the same time, normal diagnostic findings
Stoyan Popkirov, Dagmar Timmann, Christel Depienne, Friedrich Erdlenbruch, Andreas Thieme   +4 more
doaj   +1 more source