Results 201 to 210 of about 81,081 (302)

Should Patients Suffering from Degenerative Cerebellar Ataxia Switch from Balance Training to Aerobic Exercise? [PDF]

Mov Disord Clin Pract
Ilg W, Milne S.
europepmc   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1179-1191, June 2026.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Adult-Onset Acute Cerebellar Ataxia with Preceding Essential Tremor-like Syndrome Associated with a Novel Variant in ATP1A3. [PDF]

Mov Disord Clin Pract
Gattermeyer-Kell L, Franthal S, Tscherner M, Kögl M, Katschnig-Winter P, Windpassinger C, Schwingenschuh P.   +6 more
europepmc   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia. [PDF]

Mov Disord
Maroofian R, Spoto G, Moualek D, Zaki MS, Biswas A, D'Arco F, Biglari S, Nikuei P, Gleeson JG, Tazir M, Ali Pacha L, Houlden H.   +11 more
europepmc   +1 more source

The Recycling Endosomal (Na+, K+)/H+ Exchanger NHE6/SLC9A6 Facilitates Signal Transduction by Shuttling Cyclin‐Dependent Kinase 5 to the Plasma Membrane

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aim The alkali cation/proton exchanger NHE6/SLC9A6 regulates luminal pH homeostasis and trafficking of recycling endosomes in most tissues, especially neurons. Loss‐of‐function mutations in NHE6 cause Christianson Syndrome, an X‐linked neurodevelopmental and neurodegenerative disorder; however, the underlying molecular and cellular mechanisms ...
Rebecca Flessner, Alina Ilie, Léo Han, Annie Boucher, Rebecca Anne McKinney, Reza Sharif‐Naeini, John Orlowski   +6 more
wiley   +1 more source

Novel SQSTM1 (c.838G>T) Mutation Identified in Two Unrelated Cases of Cerebellar Ataxia and Gaze Palsy. [PDF]

Adv Biomed Res
Hosseini Moshkenani N, Momeni A, Bahreini A.   +2 more
europepmc   +1 more source

Changes in instrumentally and classically conditioned limb flexion responses following olivocerebellar tractotomy and inferior olivary lesions in cat. [PDF]

, 1990
Bogdanski, R, Chopko, B, Christie, D, Voneida, TJ   +3 more
core  

Dissociating role of Bassoon in glutamatergic and dopaminergic neurons in alcohol‐related behaviour and affective state in mice

British Journal of Pharmacology, Volume 183, Issue 11, Page 3111-3128, June 2026.
Abstract Background and Purpose Alcohol abuse and affective disorders are severe comorbid psychiatric diseases characterized by impaired brain synaptic transmission. The role of presynaptic scaffolding proteins coordinating presynaptic plasticity and neurotransmitter release, such as Bassoon (Bsn), in the pathogenesis of these disorders remains elusive.
Liubov S. Kalinichenko, Mona Krenbauer, Janosh Isert, Marlon Kamlah, Thorben Tanzer, Hannes Rödel, Tobias Müller, Anil Annamneedi, Enes Yağız Akdaş, Volker Eulenburg, Bernd Lenz, Eckart D. Gundelfinger, Johannes Kornhuber, Anna Fejtova, Christian P. Müller   +14 more
wiley   +1 more source