Results 41 to 50 of about 2,684 (177)

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, EarlyView.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

Neurorehabilitation for spinocerebellar degeneration

Rinsho Shinkeigaku, 2013
It remains to be elucidated whether there is a use- or dose-dependent effect of rehabilitative intervention on impairment and disability of spinocerebellar degeneration since the disease progressively damages cerebellar structure that plays a crucial role in motor learning.
openaire   +3 more sources

Targeting Expanded CUG and CTG Repeats as a Therapeutic Approach for Myotonic Dystrophy Type 1 (DM1)

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
DM1 is an RNA gain‐of‐function disease caused by CTG repeat expansion, producing toxic r(CUG)exp RNA that sequesters MBNL1 and impairs splicing. This review covers the field of CUG and CTG ligands identified or rationally designed as DM1 drug candidates, highlighting their molecular design, RNA‐ or DNA‐binding modes, in vitro affinities and ...
Camille Richagneux, Anton Granzhan
wiley   +1 more source

Factor Analysis of the Neurological Evaluation Scale (NES) and Corresponding Brain Function and Structures

International Journal of Methods in Psychiatric Research, Volume 35, Issue 1, March 2026.
ABSTRACT Objective Neurological soft signs (NSS) are minor, non‐localizable neurological abnormalities. This study aimed to investigate the factor structure of the Neurological Evaluation Scale. Material and Methods A total of 355 subjects (233 patients and 122 general population subjects). NSS were assessed using the NES.
Konstantinos N. Fountoulakis, Calypso Mitkani, Theocharis Kyziridis, Panagiotis Panagiotidis, Eva‐Maria Tsapakis   +4 more
wiley   +1 more source

Early-onset phenotype in a patient with an intermediate allele and a large SCA1 expansion: a case report

BMC Neurology
Background Spinocerebellar ataxia type 1, is a rare neurodegenerative disorder with autosomal dominant inheritance belonging to the polyglutamine diseases.
Guillaume Baille, Nicolas Geoffre, Anna Wissocq, Pauline Planté-Bordeneuve, Eugénie Mutez, Vincent Huin   +5 more
doaj   +1 more source

Sjögren: unique surname, two men, four syndromes and one disease

Arquivos de Neuro-Psiquiatria
Henrik and Torsten Sjögren (/ˈʃoʊɡrən/ or SHOH–grən) were two Swedish physicians living in the same period, but completely unrelated, except for their notable contributions to Medicine. The first one described keratoconjunctivitis sicca, afterward called
José Vitor Alécio Rodrigues, Fábio Antônio Serra de Lima, Daniel Pereira Maurício de Barros, Gustavo Leite Franklin, Adriana Meira Tiburtino Nepomuceno, Alessandra de Sousa Braz, Hélio A. G. Teive, Alex T. Meira   +7 more
doaj   +1 more source

Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography [PDF]

, 1990
Local cerebral metabolic rate for glucose was studied with 18 F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 22 patients with Friedreich's ataxia and 23 age-matched normal control subjects.
Barbeau, Barbeau, Bertagnolio, Blache, Blass, Blass, Blass, Bottachi, Cedarbaum, Chamberlain, Chamberlain, Constantopoulos, Constantopoulos, Crane, de Volder, Dijkstra, Geoffroy, Gilman, Gilman, Gilman, Gilman, Gilman, Gilman, Gilman, Greenfield, Hamacher, Harding, Harding, Hatazawa, Heiver, Herholz, Kark, Kark, Kluin, Lamarche, Mori, Oppenheimer, Oppenheimer, Rosenthal, Rumsey, Schapiro, Schapiro, Schwartz, Shiue, Stumpf, Stumpf, Stumpf, Stumpf, Tyrer   +48 more
core   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 413-417, February 2026.
ABSTRACT Autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) is caused by biallelic pathogenic variants in the SACS gene. We report the clinical, radiologic and neurophysiologic features of a pair of half‐siblings who presented with progressive cerebellar ataxia, peripheral neuropathy and upper motor neuron signs.
Dennis Yeow, Matthew Katz, Jonathan Rodgers, Mark Davis, Thomas Robertson, R. J. McKinlay Gardner, Pamela A. McCombe   +6 more
wiley   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, Volume 13, Issue 2, Page 387-392, February 2026.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source