Results 121 to 130 of about 9,291 (257)

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

Annals of Neurology, EarlyView.
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

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing. [PDF]

Brain
Erdmann H, Schaub A, Lucas MC, Scholz V, Benet-Pagès A, Becker K, Dineiger C, Mayer V, van Buren I, Breithausen E, Akbari K, Cordts I, Sauer M, Schneider C, Krakowsky R, Schnabel F, Dunker K, Fabritius L, Gerb J, Grabova D, Möhwald K, Näher M, Steinmetz K, Thiessen F, Jäck A, Schneider-Gold C, Zittel S, Petersen C, Schreyer I, Mämecke L, Wilfling S, Wunderlich G, Brenner D, Hellenbroich Y, Muhle K, Huchtemann T, Claus I, Klopstock T, Strupp M, Levin J, Höglinger GU, Huppert D, Becker-Bense S, Filippopulos F, Kilpert F, Leitão E, Kaya S, Depienne C, Schöberl F, Neuhann T, Holinski-Feder E, Zwergal A, Abicht A.   +52 more
europepmc   +1 more source

Deep Brain Stimulation for Cerebellar Ataxia: A Systematic Review on Indications, Targets and Outcomes. [PDF]

Cerebellum
Mantovani G, Antenucci P, Collautti E, Gozzi A, Sensi M, Cavallo MA, Scerrati A.   +6 more
europepmc   +1 more source

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review. [PDF]

Int J Mol Sci
Bernardi E, López-Lombardía Ó, Olmedo-Saura G, Pagonabarraga J, Kulisevsky J, Pérez-Pérez J.   +5 more
europepmc   +1 more source

Contemporary management of pain in cirrhosis: Toward precision therapy for pain

Hepatology, EarlyView., 2022
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman, Neehar Parikh, Dan J. Clauw, David A. Williams, Elliot B. Tapper   +4 more
wiley   +1 more source

Serum Neurofilament Light Levels in Patients with Cerebrotendinous Xanthomatosis: a Pilot Study. [PDF]

Cerebellum
Camelo-Filho AE, Sá Barreto Lima PLG, da Rosa RF, Miyajima OR, Marcucci MHB, de Oliveira Scott SS, de Arruda Furtado LET, Frota AF, Soares MVR, Macedo DS, Pessoa A, Nóbrega PR, Braga-Neto P.   +12 more
europepmc   +1 more source

c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis

Hepatology, EarlyView., 2022
In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie, Jill E. Hunter, Amy Collins, Amelia Rushton, Lauren G. Russell, Erik Ramon‐Gil, Maja Laszczewska, Misti McCain, Marco Y. W. Zaki, Amber Knox, Yixin Seow, Laura Sabater, Daniel Geh, Neil D. Perkins, Helen L. Reeves, Dina Tiniakos, Derek A. Mann, Fiona Oakley   +17 more
wiley   +1 more source

Treatment of primary adult-onset neurodegenerative cerebellar ataxias. [PDF]

Neurotherapeutics
Ariello LE, Rastall DPW, Rosenthal LS.
europepmc   +1 more source

Cerebellar ataxias and functional movement disorders: navigating clinical overlap. [PDF]

BMJ Neurol Open
Erdlenbruch F, Thieme A, Depienne C, Timmann D, Popkirov S.   +4 more
europepmc   +1 more source

Novel homozygous <i>SYNE1</i> missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report. [PDF]

Ther Adv Neurol Disord
Selmaj I, Himmelreich N, Selmaj K.
europepmc   +1 more source