Results 81 to 90 of about 71,064 (224)

Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia? [PDF]

, 2019
The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally diverse spinocerebellar ataxia genes have been identified.
Dineke S. Verbeek, Huang, Miaozhen; id_orcid, Miaozhen Huang, Verbeek, Dineke S.   +3 more
core   +1 more source

Neuroanatomy education through the years: Revisiting the teaching slides used by Sir Wilfrid Edward Le Gros Clark

Journal of Anatomy, EarlyView.
This paper examines the life and legacy of British anatomist Sir Wilfrid Le Gros Clark through his neuroanatomical teaching collection at the University of Oxford. The authors catalogued 103 specimens and analyzed selected slides—including cases of multiple sclerosis, amyotrophic lateral sclerosis, tabes dorsalis, syringomyelia, and the pineal gland's ...
Shiva A. Nischal, Kush M. Kale, Katherine Tourigny, Mohammed Abuelem, Gretchen Greene, Rachel Walsh, Zoltán Molnár   +6 more
wiley   +1 more source

The ataxia (axJ) mutation causes abnormal GABAA receptor turnover in mice [PDF]

, 2009
Ataxia represents a pathological coordination failure that often involves functional disturbances in cerebellar circuits. Purkinje cells (PCs) characterize the only output neurons of the cerebellar cortex and critically participate in regulating motor ...
Kneussel Matthias, Loebrich, S, Sven Loebrich, Hevers, Wulf, Michaela Schweizer, Eilers, Jens, Đikić, Ivan, Corinna Lappe-Siefke, Wilson, Scott M., Scott M Wilson, Waidmann Oliver B., Fehr Susanne, Schweizer, M, Kneussel, Matthias, Oliver B Waidmann, Fritschy Jean-Marc, Jean-Marc Fritschy, Wilson, S M, Schweizer Michaela, Jens Eilers, Eilers, J, Fritschy, Jean-Marc, Ivan Dikic, Fritschy, J M, Dikic, I, Schweizer, Michaela, Eilers Jens, Susanne Fehr, Waidmann, O B, Wilson Scott M., Fehr, Susanne, Matthias Kneussel, Fehr, S, Lappe-Siefke, Corinna, Waidmann, Oliver, Dikic Ivan, Loebrich Sven, Hevers Wulf, Lappe-Siefke, C, Hevers, W, Kneussel, M, Löbrich, Sven, Wulf Hevers, Lappe-Siefke Corinna, Loebrich, Sven, Dikic, Ivan, Waidmann, Oliver B.   +46 more
core   +2 more sources

The m.14484T>C MT‐ND6 Mutation Presenting with a Hereditary Spastic‐Paraparesis Phenotype

Movement Disorders Clinical Practice, EarlyView.
Gabriel Amorelli, Christelle Nilles, Gerald Pfeffer, Matthew Joel, Davide Martino   +4 more
wiley   +1 more source

Epigenetic signatures of attention problems in youth with childhood exposure to family and community violence

Psychiatry and Clinical Neurosciences, EarlyView.
Aim The link between violence‐related epigenetic changes and attentional problems (APs) is still not well understood. This article examines if exposure to family and community violence during childhood and adolescence may shape DNA methylation patterns associated with attention in youth.
Renata Queiroz Ramos, Adriane Feijó Evangelista, Cosme Marcelo Furtado Passos da Silva, Fernanda Serpeloni, Joviana Quintes Avanci, Natasha Reis Lacerda, Simone Gonçalves de Assis   +6 more
wiley   +1 more source

Epilepsy and Spinocerebellar Ataxia

Pediatric Neurology Briefs, 2007
A large consanguinous family from Saudi Arabia with 4 affected children presenting with an autosomal recessive ataxia, generalized tonic-clonic epilepsy and mental retardation is reported from the Institut de Genetique, Universite Louis Pasteur, Illkirch,
J Gordon Millichap
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, Volume 100, Issue 5, Page 1039-1054, November 2026.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 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

Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection

Arquivos de Neuro-Psiquiatria, 2015
Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry.
Hélio Afonso Ghizoni Teive, Adriana Moro, Mariana Moscovich, Walter Oleskho Arruda, Renato Puppi Munhoz, Salmo Raskin, Gladys Mary Ghizoni Teive, Norberto Dallabrida, Tetsuo Ashizawa   +8 more
doaj   +1 more source

Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene‐Based Classification and a Reappraisal of the Oculomotor Phenotype

Movement Disorders Clinical Practice, EarlyView.
Luiz Eduardo Novis, Flávio Moura Rezende Filho, Anna Maria Gomes, Victor Rebelo Procaci, Orlando Graziani Povoas Barsottini, José Luiz Pedroso   +5 more
wiley   +1 more source