Results 71 to 80 of about 307,217 (252)

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]

, 2012
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg, Azizov, Mekhman, Damrath, Ewa, Gispert, Suzana, Heck, Melanie V., Nowock, Joachim, Rüb, Udo, Seifried, Carola, Walter, Michael   +8 more
core   +3 more sources

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Human Genomics
Background To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children’s Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from ...
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M. Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi   +29 more
doaj   +1 more source

A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1\u3b1 mutations. [PDF]

, 2015
The particular importance of Ca2+ signaling to neurons demands its precise regulation within their cytoplasm. Isoform 3 of the plasma membrane Ca2+ ATPase (the PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the
Brini, Marisa, Cali', Tito, Carafoli, Ernesto, Frizzarin, Martina, Lopreiato, Raffaele, Shimony, J, Shinawi, M, Vineyard, M, Zanni, G, Zanotti, Giuseppe   +9 more
core   +1 more source

Supplementary Data from First-in-Human Trial of the Oral Ataxia Telangiectasia and RAD3-Related (ATR) Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors [PDF]

, 2023
Timothy A. Yap, David S.P. Tan, Angelika Terbuch, Reece Caldwell, Christina Guo, Boon Cher Goh, Valerie Heong, Noor R. Md. Haris, Saira Bashir, Yvette Drew, David S. Hong, Funda Meric‐Bernstam, Gary Wilkinson, Joseph Hreiki, Antje M. Wengner, Friedhelm Bladt, Andreas Schlicker, Matthias Ludwig, Yinghui Zhou, Li Liu, Sonal Bordia, Ruth Plummer, Eleni Lagkadinou, Johann S. de Bono   +23 more
openalex   +1 more source

Targeting ATM pathway for therapeutic intervention in cancer [PDF]

, 2012
The Ataxia Telangiectasia Mutated gene encodes the ATM protein, a key element in the DNA damage response (DDR) signalling pathway responsible for maintaining genomic integrity within the cell.
Chakarov, Stoyan, Khalil, Hilal S., Lane, David P., Tummala, Hemanth, Zhelev, Nikolai   +4 more
core   +3 more sources

Ataxia-telangiectasia: case series review from Centro Hospitalar Universitário do Santo António [PDF]

, 2023
Carlota Gomes de Almeida, Laura Marques
openalex   +1 more source

Evaluación preliminar del efecto del Compvit-B sobre procesos de memoria y aprendizaje en pacientes con SCA2

Revista Cubana de Investigaciones Biomédicas
Introducción: la ataxia Espinocerebelosa tipo 2 (SCA2) es una enfermedad neurodegenerativa que alcanza las mayores tasas de prevalencia e incidencia en Holguín, Cuba.
Rodríguez-Labrada Roberto, González Gay Olivia Teresa, Luis Velázquez-Pérez, Raúl Aguilera Rodríguez, Nalia Canales Ochoa, Yenisey Coira Moreno, Yoenis Figueredo, Jacqueline Medrano Montero, Jaime Vazquez Mojena, José Miguel Laffita Mesa, Jorge A Bergado Rosado   +10 more
doaj  

Arm Levitation as Initial Manifestation of Creutzfeldt–Jakob Disease: Case Report and Review of the Literature

Tremor and Other Hyperkinetic Movements, 2018
Background: Arm levitation is an involuntary elevation of the upper limb, a manifestation of the alien-limb phenomenon. It has rarely been reported in Creutzfeldt–Jakob disease (CJD), less so as an initial manifestation Case Report: We report a 56 ...
Vinícius B. Ciarlariello Boaratti, Orlando G. Barsottini, Alberto J. Espay, José L. Pedroso Luiz   +3 more
doaj   +1 more source

An ataxia test battery not requiring the use of rails [PDF]

Ataxia on normal humans and those with vestibular defects and ...
Fregly, A. R., Graybiel, A.
core   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source