Works matching DE "CEREBELLAR ataxia"

Results: 2051

Bedside Assessment of Autonomic Dysfunction in Multiple System Atrophy.

Published in:

2022

By:

Campese, Nicole;
Leys, Fabian;
Wenning, Gregor K.;
Fanciulli, Alessandra

Publication type:

Case Study

Pan-American Consortium of Multiple System Atrophy (PANMSA). A Pan-American multicentre cohort study of Multiple System Atrophy.

Published in:

Journal of Parkinson's Disease, 2014, v. 4, n. 4, p. 693, doi. 10.3233/JPD-140434

By:

Gatto, Emilia;
Rodríguez-Violante, Mayela;
Cosentino, Carlos;
Chana-Cuevas, Pedro;
Miranda, Marcelo;
Gallin, Ellin;
Etcheverry, Jose L.;
Nuñez, Yesenia;
Parisi, Virginia;
Persi, Gabriel;
Vecchi, Celeste;
Sanguinetti, Ana;
Alleva, Alejandro;
Aparcana, Juliana;
Torres, Luis;
Litvan, Irene

Publication type:

Article

Epilepsy with eyelid myoclonia in a patient with ATP1A3‐related neurologic disorder.

Published in:

Epileptic Disorders, 2024, v. 26, n. 6, p. 847, doi. 10.1002/epd2.20272

By:

Mertens, Ann;
Papadopoulou, Maria T.;
Papathanasiou Terzi, Matthildi Athina;
Lesca, Gaëtan;
Biela, Mateusz;
Smigiel, Robert;
Panagiotakaki, Eleni

Publication type:

Article

Soft cerebellar signs unveil RARS2‐related epilepsy.

Published in:

Epileptic Disorders, 2024, v. 26, n. 4, p. 540, doi. 10.1002/epd2.20237

By:

Yahya, Vidal;
Dilena, Robertino;
Del Bo, Roberto;
Magni, Manuela;
Biella, Fabio;
Salani, Sabrina;
Fortunato, Francesco;
Scola, Elisa;
Di Fonzo, Alessio;
Monfrini, Edoardo

Publication type:

Article

O BENEFÍCIO DA FISIOTERAPIA DOMICILIAR EM PACIENTES COM ATAXIA.

Published in:

Revista Foco (Interdisciplinary Studies Journal), 2025, v. 18, n. 5, p. 1, doi. 10.54751/revistafoco.v18n5-012

By:

Carvalho Marinho Pereira, Diego Alexandre;
Mori, Bruno

Publication type:

Article

Reversible cerebellar Ataxia: A Rare Manifestation of Metronidazole Toxicity.

Published in:

Nepal Journal of Neuroscience, 2024, v. 21, n. 4, p. 41, doi. 10.3126/njn.v21i4.65687

By:

Ranjan, Abhay;
Sinha, Neetu

Publication type:

Article

Atypical Cadherin FAT2 Is Required for Synaptic Integrity and Motor Behaviors.

Published in:

Journal of Neuroscience, 2025, v. 45, n. 24, p. 1, doi. 10.1523/JNEUROSCI.2345-24.2025

By:

Xiankun Wang;
Yadi Pu;
Jifei Miao;
Li Xie;
Liangyu Guan;
Yongfei Cui;
Jun Wang;
Liming Qin;
Ying Han;
Wöhr, Markus;
Bo Zhang

Publication type:

Article

Phenotypic variability in two siblings with Poretti-Boltshauser syndrome.

Published in:

Global Medical Genetics, 2025, v. 12, n. 1, p. 1, doi. 10.1016/j.gmg.2024.100010

By:

Moura Raftopoulos, Karolyne Michele;
Nascimento Chiang, Fernanda Sousa;
de Melo Gama, Lorena;
Farage, Luciano;
Neves Medina, Cristina Touguinha

Publication type:

Article

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal.

Published in:

Acta Médica Portuguesa, 2025, v. 38, n. 6/7, p. 408, doi. 10.20344/amp.22232

By:

MENDES FERREIRA, Vítor;
MAGRIÇO, Marta;
MEIRA, Bruna;
BARBOSA, Raquel

Publication type:

Article

Serological analysis of gluten-related antibodies in idiopathic neuropathies and cerebellar ataxia.

Published in:

Journal of Neurology, 2025, v. 272, n. 7, p. 1, doi. 10.1007/s00415-025-13187-w

By:

Rouvroye, Maxine D.;
Warendorf, Janna;
Vrancken, Alexander;
Eftimov, Filip;
Wieske, Luuk;
Faber, Catharina G.;
Hoeijmakers, Janneke G. J.;
Damoiseaux, Jan;
van de Warrenburg, Bart;
van Gaalen, Judith;
van der Molen, Renate;
Bouma, Gerd;
Bontkes, Hetty

Publication type:

Article

A patient with dysmorphic features and spastic paraparesis of the lower extremities with mutations of GRID2 and SETX genes.

Published in:

European Journal of Clinical & Experimental Medicine, 2025, v. 23, p. 111

By:

Nyankovska, Yana;
Pyrkosz, Antoni

Publication type:

Article

Expanding Phenotype of ATP1A3 Mutation.

Published in:

2025

By:

Cherian, Ajith;
Nandana, J;
Divya, K P

Publication type:

Letter

Fine mapping of 16q-linked autosomal dominant cerebellar ataxia type III in Japanese families.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 215, doi. 10.1007/s10048-004-0194-z

By:

Hirano, Ryuki;
Takashima, Hiroshi;
Okubo, Ryuichi;
Tajima, Keiko;
Okamoto, Yuji;
Ishida, Shimon;
Tsuruta, Kazuhito;
Arisato, Takayo;
Arata, Hitoshi;
Nakagawa, Masanori;
Osame, Mitsuhiro;
Arimura, Kimiyoshi

Publication type:

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

A Rare Case of Cerebellar Ataxia.

Published in:

Neurology India, 2023, v. 71, n. 5, p. 1031, doi. 10.4103/0028-3886.388054

By:

Arora, Aanchal;
Hooda, Nidhi;
Channa, Jasneet Singh;
Negi, Motilal

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

Cerebellar Ataxia in Epilepsy Patient with Normal Serum Phenytoin Levels? Suspect Hyperammonemia.

Published in:

2021

By:

Juneja, Abhishek;
Anand, Kuljeet;
Anand, Kuljeet S

Publication type:

Letter

A Case of Subacute Progressive Cerebellar Ataxia: Brownell-Oppenheimer Variant of Sporadic Creutzfeldt-Jakob Disease.

Published in:

2021

By:

Pandey, Shuchit;
Garg, Ravindra;
Holla, Vikram;
Kumar, Neeraj;
Garg, Ravindra K;
Holla, Vikram V

Publication type:

Case Study

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

Unusual case of subacute cerebellar ataxia.

Published in:

2018

By:

Renjen, Pushpendra N.;
Chaudhari, Dinesh

Publication type:

Case Study

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

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09515-4

By:

Liampas, Andreas;
Nicolaou, Paschalis;
Votsi, Christina;
Georghiou, Anthi;
Christodoulou, Kyproula;
Tanteles, George A;
Pantzaris, Marios

Publication type:

Article

Temporal disruption of upper-limb anticipatory postural adjustments in cerebellar ataxic patients.

Published in:

Experimental Brain Research, 2015, v. 233, n. 1, p. 197, doi. 10.1007/s00221-014-4103-x

By:

Bruttini, Carlo;
Esposti, Roberto;
Bolzoni, Francesco;
Vanotti, Alessandra;
Mariotti, Caterina;
Cavallari, Paolo

Publication type:

Article

Turning strategies in patients with cerebellar ataxia.

Published in:

Experimental Brain Research, 2012, v. 222, n. 1/2, p. 65, doi. 10.1007/s00221-012-3197-2

By:

Mari, Silvia;
Serrao, Mariano;
Casali, Carlo;
Conte, Carmela;
Ranavolo, Alberto;
Padua, Luca;
Draicchio, Francesco;
Iavicoli, Sergio;
Monamì, Stefano;
Sandrini, Giorgio;
Pierelli, Francesco

Publication type:

Article

Linear and angular control of circular walking in healthy older adults and subjects with cerebellar ataxia.

Published in:

Experimental Brain Research, 2012, v. 219, n. 1, p. 151, doi. 10.1007/s00221-012-3074-z

By:

Goodworth, Adam;
Paquette, Caroline;
Jones, Geoffrey;
Block, Edward;
Fletcher, William;
Hu, Bin;
Horak, Fay

Publication type:

Article

Feedforward postural muscle modes and multi-mode coordination in mild cerebellar ataxia.

Published in:

Experimental Brain Research, 2011, v. 210, n. 1, p. 153, doi. 10.1007/s00221-011-2613-3

By:

Asaka, Tadayoshi;
Wang, Yun

Publication type:

Article

The influence of knee rigidity on balance corrections: a comparison with responses of cerebellar ataxia patients.

Published in:

Experimental Brain Research, 2008, v. 187, n. 2, p. 181, doi. 10.1007/s00221-008-1292-1

By:

Oude Nijhuis, L. B.;
Hegeman, J.;
Bakker, M.;
Van Meel, M.;
Bloem, B. R.;
Allum, J. H. J.

Publication type:

Article

AREA MEASUREMENTS WITHIN THE FORAMEN MAGNUM: COMPARISON OF 171 PATIENTS WITH SYMPTOMATIC AND ASYMPTOMATIC CHIARI MALFORMATION TYPE 1.

Published in:

Journal of Turkish Spinal Surgery, 2023, v. 34, n. 4, p. 156, doi. 10.4274/jtss.galenos.2023.92400

By:

Gezer, Burak;
Gündoğdu, Derya Karaoğlu;
Cebeci, Hakan;
Topaloğlu, Ömer Faruk;
Karabağlı, Hakan

Publication type:

Article

Accumulation of formaldehyde causes motor deficits in an in vivo model of hindlimb unloading.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02448-9

By:

Yao, Dandan;
He, Qingyuan;
Bai, Shangying;
Zhao, Hang;
Yang, Jun;
Cui, Dehua;
Yu, Yan;
Fei, Xuechao;
Mei, Yufei;
Cheng, Ye;
Yan, Shi;
Huang, Nayan;
Di, Yalan;
Cai, Xianjie;
Wang, Rui;
Gao, Yajuan;
Cheng, Fangrao;
Zhao, Shengjie;
Yang, Xu;
Cai, Xiang

Publication type:

Article

Accumulation of formaldehyde causes motor deficits in an in vivo model of hindlimb unloading.

Published in:

Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02448-9

By:

Yao, Dandan;
He, Qingyuan;
Bai, Shangyin;
Zhao, Hang;
Yang, Jun;
Cui, Dehua;
Yu, Yan;
Fei, Xuechao;
Mei, Yufei;
Cheng, Ye;
Yan, Shi;
Huang, Nayan;
Di, Yalan;
Cai, Xianjie;
Wang, Rui;
Gao, Yajuan;
Cheng, Fangrao;
Zhao, Shengjie;
Yang, Xu;
Cai, Xiang

Publication type:

Article

Effects of Low-Frequency Deep Brain Stimulation in Bilateral Zona Incerta for a Patient With Tremor and Cerebellar Ataxia.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.925

By:

Kumar, Ami;
Matulis, Kristen L.;
Fadel, Zena A.;
Fanning, Alexander S.;
Amlang, Christian J.;
Kuo, Sheng-Han

Publication type:

Article

Horizontal Pendular Nystagmus and Ataxia Secondary to Severe Hypomagnesemia.

Published in:

2024

By:

Polanco, Marcos;
Rivera, María;
Manrique, Leire;
Lage, Carmen;
Infante, Jon

Publication type:

Case Study

L-2 hydroxyglutaric aciduria: report of a Mexican-Mayan patient with the mutation c.569C>T and response to vitamin supplements and levocarnitine.

Published in:

2024

By:

Leal-Ortega, Roberto;
Parra-Medina, Luis Enrique;
González-Herrera, Lizbeth Josefina

Publication type:

Case Study

Resolution of Wing-Beating Tremor and Magnetic Resonance Imaging Lesions in Wilson's Disease Following Penicillamine.

Published in:

Tremor & Other Hyperkinetic Movements, 2024, v. 14, n. 1, p. 1, doi. 10.5334/tohm.857

By:

Brum, Igor Vilela;
Parmera, Jacy Bezerra;
Otani, Rafael Tomio Vicentini;
Prates, Izaely Ramos;
Lucato, Leandro Tavares;
Cury, Rubens Gisbert;
Barbosa, Egberto Reis

Publication type:

Article

Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.747

By:

Hassan, Anhar

Publication type:

Article

Spectrum of Movement Disorders in Niemann-Pick Disease Type C.

Published in:

Tremor & Other Hyperkinetic Movements, 2022, v. 12, p. 1, doi. 10.5334/tohm.701

By:

DEVARAJ, RASHMI;
MAHALE, ROHAN R.;
SINDHU, D. M.;
STEZIN, ALBERT;
KAMBLE, NITISH;
HOLLA, VIKRAM V.;
NETRAVATHI, M.;
YADAV, RAVI;
KUMAR, PRAMOD

Publication type:

Article

Neuroradiological Findings in the Spinocerebellar Ataxias.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.682

By:

Tiburtino Meira, Alex;
Oleschko Arruda, Walter;
Eiji Ono, Sergio;
de Carvalho Neto, Arnolfo;
Raskin, Salmo;
Camargo, Carlos Henrique F.;
Teive, Hélio Afonso G.

Publication type:

Article

A Case of Treatment Resistance and Complications in a Patient with Stiff Person Syndrome and Cerebellar Ataxia.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.677

By:

Jones, Lliwen A.;
Baber, Waqaar;
Wardle, Mark;
Robertson, Neil P.;
Morris, Huw R.;
Church, Alistair;
Llewelyn, John G.;
Peall, Kathryn J.

Publication type:

Article

Acute Cerebellar Ataxia Associated with Modest Elevation of Anti-GAD Antibodies in a Young Patient.

Published in:

Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/D8FX8TF5

By:

Gomez, Juliana;
Dongkwan Jin

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

ATAXIA IN A CHILD: A RARE PRESENTATION OF A RARE ENTITY.

Published in:

2018

By:

Pandey, Swetal C;
Rath, Prasan Deep;
Mittal, Rekha;
Bhasin, Shaloo

Publication type:

Case Study

DIAGNOSTIC METHODS USED TO DETECT TOXOPLASMA GONDII INFESTATION IN CATS - CASE REPORT.

Published in:

2023

By:

IVĂNESCU, Larisa;
MARTINESCU, Gabriela-Victoria;
MĂTIUȚ, Simona;
MÎNDRU, Raluca;
ANDRONIC, Lavinia;
MUSTAȚĂ, Mihai;
MIRON, Liviu

Publication type:

Case Study

Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome.

Published in:

Hereditas, 2023, v. 160, n. 1, p. 1, doi. 10.1186/s41065-023-00282-z

By:

Wang, Chenyu;
Lin, Zhaojing;
Yuan, ZhuangZhuang;
Tang, Tieyu;
Fan, Liangliang;
Liu, Yihui;
Wu, Xuan

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

Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes.

Published in:

Journal of Neurogenetics, 2023, v. 37, n. 4, p. 124, doi. 10.1080/01677063.2023.2281916

By:

Jeridi, Cyrine;
Rachdi, Amine;
Nabli, Fatma;
Saied, Zacharia;
Zouari, Rania;
Ben Mohamed, Dina;
Ben Said, Mariem;
Masmoudi, Saber;
Ben Sassi, Samia;
Amouri, Rim

Publication type:

Article

Workshop Report: European Workshop on Ataxia-Telangiectasia, Frankfurt, 2011.

Published in:

Journal of Neurogenetics, 2011, v. 25, n. 3, p. 78, doi. 10.3109/01677063.2011.592553

By:

Zielen, Stefan;
Schubert, Ralf

Publication type:

Article

Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family.

Published in:

Journal of Neurogenetics, 2008, v. 22, n. 2, p. 139, doi. 10.1080/01677060802025233

By:

Bouhlal, Yosr;
Zouari, Mourad;
Kefi, Mounir;
Hamida, Christiane Ben;
Hentati, Fayçal;
Amouri, Rim

Publication type:

Article

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 832, doi. 10.1002/acn3.70008

By:

Rudaks, Laura Ivete;
Stevanovski, Igor;
Yeow, Dennis;
Reis, Andre L. M.;
Chintalaphani, Sanjog R.;
Cheong, Pak Leng;
Gamaarachchi, Hasindu;
Worgan, Lisa;
Ahmad, Kate;
Hayes, Michael;
Hannaford, Andrew;
Kim, Samuel;
Fung, Victor S. C.;
Halmagyi, Gabor M.;
Martin, Andrew;
Manser, David;
Tchan, Michel;
Ng, Karl;
Kennerson, Marina L.;
Deveson, Ira W.

Publication type:

Article

Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 1, p. 158, doi. 10.1002/acn3.52265

By:

Fang, Shih‐Yu;
Hsiao, Cheng‐Tsung;
Jih, Kang‐Yang;
Tsai, Yu‐Sheun;
Lai, Kuan‐Lin;
Chou, Cheng‐Ta;
Liao, Yi‐Chu;
Lee, Yi‐Chung

Publication type:

Article

Altered exosomal miRNA profiles in patients with paraneoplastic cerebellar degeneration.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 12, p. 3255, doi. 10.1002/acn3.52232

By:

Tveit Solheim, Eirik;
Vestrheim Thomsen, Liv Cecilie;
Bjørge, Line;
Anandan, Shamundeeswari;
Peter, Elise;
Desestret, Virginie;
Totland, Cecilie;
Vedeler, Christian A.

Publication type:

Article