Works matching DE "SPINOCEREBELLAR ataxia"

Results: 1773

Identifying Molecular Properties of Ataxin-2 Inhibitors for Spinocerebellar Ataxia Type 2 Utilizing High-Throughput Screening and Machine Learning.

Published in:

Biology (2079-7737), 2025, v. 14, n. 5, p. 522, doi. 10.3390/biology14050522

By:

Sahay, Smita;
Wen, Jingran;
Scoles, Daniel R.;
Simeonov, Anton;
Dexheimer, Thomas S.;
Jadhav, Ajit;
Kales, Stephen C.;
Sun, Hongmao;
Pulst, Stefan M.;
Facelli, Julio C.;
Jones, David E.

Publication type:

Article

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 513, doi. 10.4103/neurol-india.Neurol-India-D-24-00552

By:

Kumar, Hari Shankar;
Shah, Nidhi;
Shah, Parth;
Kotecha, Udhaya;
Mistri, Mehul;
Jarullah, Bushra

Publication type:

Article

Fingolimod Prevents Neuroinflammation but Has a Limited Effect on the Development of Ataxia in a Mouse Model for SCA1.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 10, p. 4698, doi. 10.3390/ijms26104698

By:

Yang, Chen;
Gravendeel, Nienke;
On, Amy Chin;
Post, Laura;
van Bergen, Ryan;
Osorio, Catarina;
Schonewille, Martijn

Publication type:

Article

Itinerarios terapéuticos de la población con Ataxia espinocerebelosa tipo 7 en Veracruz (México): una aproximación antropológica a las enfermedades de baja prevalencia.

Published in:

Revista del Museo de Antropología, 2025, v. 18, n. 1, p. 269, doi. 10.31048/dsx50d55

By:

Moctezuma Balderas, Andrea Cristina;
Muñoz Martínez, Rubén

Publication type:

Article

Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.

Published in:

Nature Structural & Molecular Biology, 2014, v. 21, n. 11, p. 955, doi. 10.1038/nsmb.2902

By:

Tan, Jennifer Y;
Vance, Keith W;
Varela, Miguel A;
Sirey, Tamara;
Watson, Lauren M;
Curtis, Helen J;
Marinello, Martina;
Alves, Sandro;
Steinkraus, Bruno R;
Cooper, Sarah;
Nesterova, Tatyana;
Brockdorff, Neil;
Fulga, Tudor A;
Brice, Alexis;
Sittler, Annie;
Oliver, Peter L;
Wood, Matthew J;
Ponting, Chris P;
Marques, Ana C

Publication type:

Article

Quetiapine Treatment for Psychosis in Friedreich's Ataxia.

Published in:

Klinik Psikofarmakoloji Bulteni, 2012, v. 22, n. 4, p. 357, doi. 10.5455/bcp.20120729093746

By:

Oruc, Serdar;
Gulseren, Guray;
Kusbeci, Ozge Yilmaz;
Yaman, Mehmet;
Gecici, Omer

Publication type:

Article

Lithium therapy improves neurological function and hippocampal dendritic arborization in a spinocerebellar ataxia type 1 mouse model.

Published in:

2007

By:

Watase, Kei;
Gatchel, Jennifer R.;
Sun, Yaling;
Emamian, Effat;
Atkinson, Richard;
Richman, Ronald;
Mizusawa, Hidehiro;
Orr, Harry T.;
Shaw, Chad;
Zoghbi, Huda Y.

Publication type:

journal article

Expanding the Clinical, Pathological, and Molecular Phenotypes of Tetratricopeptide 19 (TTC19) Gene Mutations: A Case Report from India.

Published in:

Neurology India, 2025, v. 73, n. 1, p. 156, doi. 10.4103/neurol-india.Neurol-India-D-24-00143

By:

Farsana, MK;
Arunachal, Gautham;
Nandeesh, BN;
Kulanthaivelu, Karthik;
Mahale, Rohan R.;
Padmanabha, Hansashree;
Mathuranath, PS;
Mailankody, Pooja

Publication type:

Article

Clinical and Molecular Spectrum of Degenerative Cerebellar Ataxia: A Single Centre Study.

Published in:

2022

By:

Balakrishnan, Surya;
Aggarwal, Shagun;
Muthulakshmi, Mayandi;
Meena, Angamuthu;
Borgohain, Rupam;
Mridula, Kandadai;
Yareeda, Sireesha;
Ranganath, Prajnya;
Dalal, Ashwin;
Meena, Angamuthu Kanikannan;
Mridula, Kandadai Rukmini

Publication type:

Journal Article

Cortical and Subcortical Brain Area Atrophy in SCA1 and SCA2 Patients in India: The Structural MRI Underpinnings and Correlative Insight Among the Atrophy and Disease Attributes.

Published in:

2021

By:

Tamuli, Dibashree;
Kaur, Manpreet;
Sethi, Tavpritesh;
Singh, Anup;
Faruq, Mohammed;
Jaryal, Ashok;
Srivastava, Achal;
Kumaran, Senthil;
Deepak, Kishore;
Jaryal, Ashok K;
Srivastava, Achal K;
Kumaran, Senthil S;
Deepak, Kishore K

Publication type:

journal article

Mutations in the Voltage Dependent Calcium Channel (P/Q type alpha 1A subunit) Causing Neurological Disorders - An Overview.

Published in:

2021

By:

Manickam, Agaath;
Ramasamy, Sivasamy;
Manickam, Agaath Hedina

Publication type:

journal article

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

Published in:

2021

By:

Chen, You;
Cen, Zhidong;
Zheng, Xiaosheng;
Chen, Si;
Xie, Fei;
Luo, Wei

Publication type:

Case Study

Autosomal Dominant Spinocerebellar Ataxias: The Subtypes.

Published in:

2020

By:

Murthy, J;
Murthy, J M K

Publication type:

journal article

Spinocerebellar Ataxias in India: Three‑year Molecular Data from a Central Reference Laboratory.

Published in:

2020

By:

Bhanushali, Aparna;
Venkatesan, Radhakrishnan;
Das, Bibhu;
Bhanushali, Aparna Amarendra;
Das, Bibhu R

Publication type:

journal article

Genetic analysis of a family from India with Machado-Joseph disease.

Published in:

2019

By:

Anjanappa, Ram;
Jain, Sanjeev;
Wali, Gurusidheshwar;
Purushottam, Meera;
Anjanappa, Ram M;
Wali, Gurusidheshwar M

Publication type:

Letter

Parkinsonian syndromes: A review.

Published in:

2018

By:

Srivanitchapoom, Prachaya;
Pitakpatapee, Yuvadee;
Suengtaworn, Arpakorn

Publication type:

journal article

Sporadic spinocerebellar ataxia, type 5: First report from India.

Published in:

2018

By:

Mahale, Rohan;
Mehta, Anish;
Hegde, Sridevi;
Buddaraju, Kiran;
Javali, Mahendra;
Acharya, Purushottam T.;
Srinivasa, Rangasetty

Publication type:

Case Study

PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases.

Published in:

Journal of Assisted Reproduction & Genetics, 2024, v. 41, n. 5, p. 1273, doi. 10.1007/s10815-024-03105-w

By:

Soloveva, Elena V.;
Skleimova, Maria M.;
Minaycheva, Larisa I.;
Garaeva, Anna F.;
Zhigalina, Daria I.;
Churkin, Egor O.;
Okkel, Yulia V.;
Timofeeva, Oksana S.;
Petrov, Ilya A.;
Seitova, Gulnara N.;
Lebedev, Igor N.;
Stepanov, Vadim A.

Publication type:

Article

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1).

Published in:

Molecular Biology Reports, 2025, v. 52, n. 1, p. 1, doi. 10.1007/s11033-024-10085-8

By:

Ahmad, Riaz;
Sayyad, Filza;
Naeem, Muhammad;
Houlden, Henry

Publication type:

Article

Using prediction errors to drive saccade adaptation: the implicit double-step task.

Published in:

Experimental Brain Research, 2012, v. 222, n. 1/2, p. 55, doi. 10.1007/s00221-012-3195-4

By:

Wong, Aaron;
Shelhamer, Mark

Publication type:

Article

Single-residue mutation in protein kinase C toggles between cancer and neurodegeneration.

Published in:

Biochemical Journal, 2023, v. 480, n. 16, p. 1299, doi. 10.1042/BCJ20220397

By:

Jones, Alexander C.;
Kornev, Alexandr P.;
Jui-Hung Weng;
Manning, Gerard;
Taylor, Susan S.;
Newton, Alexandra C.

Publication type:

Article

Ataxin-2: a powerful RNA-binding protein.

Published in:

Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-01158-y

By:

Li, Lulu;
Wang, Meng;
Huang, Lai;
Zheng, Xiaoli;
Wang, Lina;
Miao, Hongming

Publication type:

Article

Ataxin-2: a powerful RNA-binding protein.

Published in:

Discover Oncology, 2024, v. 15, n. 1, p. 1, doi. 10.1007/s12672-024-01158-y

By:

Li, Lulu;
Wang, Meng;
Huang, Lai;
Zheng, Xiaoli;
Wang, Lina;
Miao, Hongming

Publication type:

Article

Featuring the Features of the Featureless Tremor: A Statement about Essential Tremor.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.931

By:

Louis, Elan D.

Publication type:

Article

Tremor in Spinocerebellar Ataxia: A Scoping Review.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.911

By:

Mukherjee, Adreesh;
Pandey, Sanjay

Publication type:

Article

Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.889

By:

Luo, Weili;
Zheng, Xiaosheng;
Lin, Zhiru;
Luo, Wei

Publication type:

Article

Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.

Published in:

2024

By:

Sorrentino, Ugo;
Romito, Luigi M.;
Garavaglia, Barbara;
Fichera, Mario;
Colangelo, Isabel;
Prokisch, Holger;
Winkelmann, Juliane;
Necpal, Jan;
Jech, Robert;
Zech, Michael

Publication type:

Case Study

Apraxia of Eyelid Opening and Blepharospasm in Two Spinocerebellar Ataxia Type 3 Patients.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.677

By:

GUIMARÃES, THIAGO G.;
MONTANHA, LUCAS R.;
FREUA, FERNANDO;
PAIVA, ANDERSON R. B.;
MACEDO-SOUZA, LÚCIA I.;
KOK, FERNANDO

Publication type:

Article

Clinical, Radiological, and Genetic Profile of Spinocerebellar Ataxia 12: A Hospital-Based Cohort Analysis.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.686

By:

GANARAJA, VALAKUNJA HARIKRISHNA;
HOLLA, VIKRAM V.;
STEZIN, ALBERT;
KAMBLE, NITISH;
YADAV, RAVI;
PURUSHOTTAM, MEERA;
JAIN, SANJEEV;
PAL, PRAMOD KUMAR

Publication type:

Article

Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred.

Published in:

Tremor & Other Hyperkinetic Movements, 2021, v. 11, p. 1, doi. 10.5334/tohm.639

By:

PRASAD, SHWETA;
HOLLA, VIKRAM V.;
PAL, PRAMOD KUMAR

Publication type:

Article

Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.704

By:

Mitchell, Nester;
LaTouche, Gaynel A.;
Nelson, Beverly;
Figueroa, Karla P.;
Walker, Ruth H.;
Sobering, Andrew K.

Publication type:

Article

Familial Spinocerebellar Ataxia Type 2 Parkinsonism Presenting as Intractable Oromandibular Dystonia.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/D8087PB6

By:

Kyung Ah Woo;
Jee-Young Lee;
Beomseok Jeon

Publication type:

Article

Steroid-responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Presenting with Pure Cerebellar Ataxia.

Published in:

2018

By:

Pichet Termsarasab;
Yuvadee Pitakpatapee;
Frucht, Steven J.;
Prachaya Srivanitchapoom

Publication type:

Case Study

Dentatorubral-pallidoluysian Atrophy: An Update.

Published in:

Tremor & Other Hyperkinetic Movements, 2018, p. 1, doi. 10.7916/D81N9HST

By:

Carroll, Liam S.;
Massey, Thomas H.;
Wardle, Mark;
Peall, Kathryn J.

Publication type:

Article

Diagnosis of Spinocerebellar Ataxia in the West Indies.

Published in:

2018

By:

Yearwood, Ashley K.;
Rethi, Shruthi;
Figueroa, Karla P.;
Walker, Ruth H.;
Sobering, Andrew K.

Publication type:

Case Study

Spinocerebellar Ataxia 27: A Review and Characterization of an Evolving Phenotype.

Published in:

2018

By:

Groth, Christopher L.;
Berman, Brian D.

Publication type:

Case Study

NEURODEGENERATIVE DISEASES (ND) –CHALLENGES AND PERSPECTIVES IN MOLECULAR APPROACH TREATMENT.

Published in:

Genetics & Applications, 2024, p. 2

By:

Jasmin, Ramić;
Lejla, Pojskić;
Naida, Lojo Kadrić;
Nikolina, Tomić;
Belmina, Šarić Medić

Publication type:

Article

Quantitative Characterization of Gait Patterns in Individuals with Spinocerebellar Ataxia 38.

Published in:

Bioengineering (Basel), 2023, v. 10, n. 7, p. 788, doi. 10.3390/bioengineering10070788

By:

Pau, Massimiliano;
Porta, Micaela;
Pau, Chiara;
Tacconi, Paolo;
Sanna, Angela

Publication type:

Article

The Reeler Mouse: A Translational Model of Human Neurological Conditions, or Simply a Good Tool for Better Understanding Neurodevelopment?

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 12, p. 2088, doi. 10.3390/jcm8122088

By:

Lossi, Laura;
Castagna, Claudia;
Granato, Alberto;
Merighi, Adalberto

Publication type:

Article

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 6, p. 789, doi. 10.3390/jcm8060789

By:

Zierz, Charlotte M.;
Baty, Karen;
Blakely, Emma L.;
Hopton, Sila;
Falkous, Gavin;
Schaefer, Andrew M.;
Hadjivassiliou, Marios;
Sarrigiannis, Ptolemaios G.;
Ng, Yi Shiau;
Taylor, Robert W.

Publication type:

Article

PONT: A Protocol for Online Neuropsychological Testing.

Published in:

Journal of Cognitive Neuroscience, 2021, v. 33, n. 11, p. 2413, doi. 10.1162/jocn_a_01767

By:

Saban, William;
Ivry, Richard B.

Publication type:

Article

Trial-to-trial Adaptation: Parsing out the Roles of Cerebellum and BG in Predictive Motor Timing.

Published in:

Journal of Cognitive Neuroscience, 2016, v. 28, n. 7, p. 919, doi. 10.1162/jocn_a_00943

By:

Lungu, Ovidiu V.;
Bares, Martin;
Tao Liu;
Gomez, Christopher M.;
Cechova, Ivica;
Ashe, James

Publication type:

Article

Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 4, p. 370, doi. 10.1080/01677063.2021.1940172

By:

Vishwakarma, Priyanka;
Agarwal, Sarita;
Dean, Deepika Delsa;
Muthuswamy, Srinivasan;
Mandal, Kausik

Publication type:

Article

Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 80, doi. 10.3109/01677063.2015.1054992

By:

Ohmori, Hiroyuki;
Hara, Akio;
Ishikawa, Kinya;
Mizusawa, Hidehiro;
Ando, Yukio

Publication type:

Article

What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.

Published in:

Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 103, doi. 10.3109/01677063.2015.1060972

By:

Liu, Yo-Tsen;
Lee, Yi-Chung;
Soong, Bing-Wen

Publication type:

Article

SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1879, doi. 10.1002/acn3.52094

By:

Naef, Valentina;
Lieto, Maria;
Satolli, Sara;
De Micco, Rosa;
Troisi, Martina;
Pasquariello, Rosa;
Doccini, Stefano;
Privitera, Flavia;
Filla, Alessandro;
Tessitore, Alessandro;
Santorelli, Filippo Maria

Publication type:

Article

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 5, p. 1110, doi. 10.1002/acn3.52027

By:

Shen, Megan M.;
Rummey, Christian;
Lynch, David R.

Publication type:

Article

Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 96, doi. 10.1002/acn3.51936

By:

Ando, Masahiro;
Higuchi, Yujiro;
Yuan, Junhui;
Yoshimura, Akiko;
Kojima, Fumikazu;
Yamanishi, Yuki;
Aso, Yasuhiro;
Izumi, Kotaro;
Imada, Minako;
Maki, Yoshimitsu;
Nakagawa, Hiroto;
Hobara, Takahiro;
Noguchi, Yutaka;
Takei, Jun;
Hiramatsu, Yu;
Nozuma, Satoshi;
Sakiyama, Yusuke;
Hashiguchi, Akihiro;
Matsuura, Eiji;
Okamoto, Yuji

Publication type:

Article

Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1833, doi. 10.1002/acn3.51875

By:

Jacobi, Heike;
Schaprian, Tamara;
Schmitz‐Hübsch, Tanja;
Schmid, Matthias;
Klockgether, Thomas

Publication type:

Article

Pure cerebellar ataxia due to bi‐allelic PRDX3 variants including recurring p.Asp202Asn.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1910, doi. 10.1002/acn3.51874

By:

Efthymiou, Stephanie;
Novis, Luiz E.;
Koutsis, Georgios;
Koniari, Chrysoula;
Maroofian, Reza;
Turchetti, Valentina;
Velonakis, Georgios;
Vasconcellos, Luiz F.;
Raskin, Salmo;
Srinivasan, Varunvenkat M.;
Pagnamenta, Alistair T.;
Arun, Yaramanchanahalli B.;
Kinhal, Uddhava V.;
Gowda, Vykuntaraju K.;
Teive, Helio A. G.;
Houlden, Henry

Publication type:

Article