Works matching DE "ATAXIA"

Results: 3003

Unverricht-Lundborg disease.

Published in:

Epileptic Disorders, 2016, v. 18, p. S28, doi. 10.1684/epd.2016.0841

By:

Crespel, Arielle;
Ferlazzo, Edoardo;
Franceschetti, Silvana;
Genton, Pierre;
Gouider, Riadh;
Kälviäinen, Reetta;
Korja, Miikka;
Lehtinen, Maria K.;
Mervaala, Esa;
Simonato, Michele;
Vaarmann, Annika

Publication type:

Article

Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations.

Published in:

Epileptic Disorders, 2016, v. 18, p. S135, doi. 10.1684/epd.2016.0859

By:

Nascimento, Fábio A.;
Andrade, Danielle M.

Publication type:

Article

GOSR2: a progressive myoclonus epilepsy gene.

Published in:

Epileptic Disorders, 2016, v. 18, p. S111, doi. 10.1684/epd.2016.0848

By:

Dibbens, Leanne M.;
Rubboli, Guido

Publication type:

Article

KCTD7-related progressive myoclonus epilepsy.

Published in:

Epileptic Disorders, 2016, v. 18, p. S115, doi. 10.1684/epd.2016.0856

By:

Van Bogaert, Patrick

Publication type:

Article

The cerebellum in epilepsy.

Published in:

Epilepsia (Series 4), 2025, v. 66, n. 6, p. 1773, doi. 10.1111/epi.18316

By:

Elder, Christopher;
Kerestes, Rebecca;
Opal, Puneet;
Marchese, Maria;
Devinsky, Orrin

Publication type:

Article

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 6, p. 1118, doi. 10.1002/acn3.70016

By:

Cuillerier, Alexanne;
Del Gobbo, Giulia F.;
Mackay, Layla;
Wall, Erika;
Couse, Madeline;
McDonell, Laura M.;
Cloutier, Mireille;
Danzi, Matt C.;
Warman‐Chardon, Jodi;
Bourque, Pierre R.;
Suchowersky, Oksana;
Mears, Alan;
Seldenthuis, Luke;
Mears, Wendy;
Larrigan, Laura;
White‐Brown, Alexandre;
Pfeffer, Gerald;
Bulman, Dennis E.;
Dyment, David;
Boycott, Kym M.

Publication type:

Article

A Case of Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids (SLIPPERS) with Associated Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS) and a Review of Literature

Published in:

2025

By:

Mirg, Shivam;
Das, Animesh;
Parashar, Akhil;
Tripathi, Manjari;
Garg, Ajay

Publication type:

Letter

The Expanding Spectrum of Anti-IgLON5 Disease: A Case Series from an Indian Cohort.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 440, doi. 10.4103/aian.aian_1073_24

By:

Ganapule, Avinash;
Garg, Divyani;
Agarwal, Ayush;
Gupta, Anu;
Rajan, Roopa;
Desai, Soaham;
Chandarana, Mitesh;
Sidharth, S;
Tripathi, Madhavi;
Garg, Ajay;
Radhakrishnan, Divya M;
Srivastava, Achal Kumar

Publication type:

Article

POLR3A rare variants in a patient with intellectual disability, ataxic gait and cortical malformations: a case-report.

Published in:

Italian Journal of Pediatrics, 2025, v. 51, n. 1, p. 1, doi. 10.1186/s13052-025-02024-5

By:

Florio, Caterina Angela;
Mirabella, Federica;
Prato, Adriana;
Longhitano, Andrea;
Barone, Rita;
Rizzo, Renata

Publication type:

Article

Spinal cord involvement in Susac Syndrome: a unique paediatric case.

Published in:

2025

By:

Bigey--Frau, Dorian;
Lepine, Anne;
Urbina, Diego

Publication type:

Case Study

Acute onset anti-MAG neuropathy and paradoxical worsening to rituximab: a challenging case.

Published in:

Neurological Sciences, 2025, v. 46, n. 7, p. 3291, doi. 10.1007/s10072-025-08087-w

By:

Cassano, Emanuele;
Iodice, Rosa;
Di Sarno, Isabella;
Bencivenga, Roberta;
Manganelli, Fiore;
Tozza, Stefano

Publication type:

Article

Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.

Published in:

Acta Neuropathologica, 2025, v. 149, n. 1, p. 1, doi. 10.1007/s00401-025-02891-6

By:

Smith, Laura A.;
Olkhova, Elizaveta A.;
Lax, Nichola Z.;
Ng, Yi Shiau;
Taylor, Robert W.;
Gorman, Grainne S.;
Erskine, Daniel;
McFarland, Robert

Publication type:

Article

Childhood Chronic Progressive Ataxia with Normal Neuroimaging: Think of CONDSIAS.

Published in:

2025

By:

Bhanudeep, Singanamalla;
Koneti, Bramhini Bhargavi

Publication type:

Letter

Cerebellum-Predominant Progressive Multifocal Leukoencephalopathy: An Under-recognized Cause of Cerebellar Syndrome among People with Human Immunodeficiency Virus Infection.

Published in:

Neurology India, 2025, v. 73, n. 3, p. 519, doi. 10.4103/neurol-india.Neurol-India-D-23-00603

By:

Kumar, Selwyn Selva;
Gautam, Priyanka;
Vanjare, Harshad Arvind;
Kumar, P Prasanna;
Abraham, Asha Mary;
Karthik, Rajiv;
Manesh, Abi

Publication type:

Article

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse.

Published in:

Neurogenetics, 2004, v. 5, n. 4, p. 229, doi. 10.1007/s10048-004-0197-9

By:

Mannan, Ashraf U.;
Roussa, Elena;
Kraus, Cornelia;
Rickmann, Micheal;
Maenner, Joerg;
Nayernia, Karim;
Krieglstein, Kerstin;
Reis, André;
Engel, Wolfgang

Publication type:

Article

Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Published in:

Neurogenetics, 2004, v. 5, n. 3, p. 165, doi. 10.1007/s10048-004-0179-y

By:

Richter, Andrea M.;
Koksal Ozgul, Riza;
Poisson, Virginie C.;
Topaloglu, Hauk

Publication type:

Article

Novel splice site CACNA1A mutation causing episodic ataxia type 2.

Published in:

Neurogenetics, 2004, v. 5, n. 1, p. 69, doi. 10.1007/s10048-003-0161-0

By:

Kaunisto, M. A.;
Harno, H.;
Kallela, M.;
Somer, H.;
Sallinen, R.;
Hämäläinen, E.;
Miettinen, P. J.;
Vesa, J.;
Orpana, A.;
Palotie, A.;
Färkkilä, M.;
Wessman, M.

Publication type:

Article

Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich's ataxia - a case report.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2023, v. 80, n. 2, p. 182, doi. 10.2298/VSP220209027S

By:

Samardžić, Vesna

Publication type:

Article

UN MODELO BASADO EN ECUACIONES DIFERENCIALES ORDINARIAS PARA ESTUDIOS DE LOS MOVIMIENTOS SACÁDICOS EN PACIENTES CON ATAXIA ESPINOCEREBELOSA DE TIPO 2 (SCA2).

Published in:

Revista Cubana de Física, 2018, v. 35, n. 1E, p. E38

By:

MORA, C.;
VELÁZQUEZ, C.;
URQUIZA, R.;
BECERRA, R.;
VÁZQUEZ, E.

Publication type:

Article

Simultaneous Axillary–Carotid and Carotid–Axillary Bypass.

Published in:

Indian Journal of Surgery, 2021, v. 83, n. 1, p. 330, doi. 10.1007/s12262-020-02325-5

By:

Qi, Yixia;
Li, Liqiang;
Cui, Shijun;
Yan, Lin;
Gu, Yongquan

Publication type:

Article

Novel Compound Heterozygous Mutation on MYORG Gene in a Chinese Patient with Primary Familial Brain Calcification.

Published in:

2025

By:

Lin, Jixiang;
Wang, Yanfei;
Gao, Xiang;
Liu, Xiaomin

Publication type:

Letter

Adult-onset Migraine and Very Late Onset Ataxia Due to a Novel Pathogenic Variant of the CACNA1A Gene.

Published in:

Neurology India, 2023, v. 71, n. 6, p. 1307, doi. 10.4103/0028-3886.391362

By:

Bhattacharjee, Shakya;
Paramanandam, Vijayshankar

Publication type:

Article

Craniovertebral Junction Anomalies: An Overlooked Cause of 'Posterior Circulation Stroke'.

Published in:

Neurology India, 2022, v. 70, p. 149, doi. 10.4103/0028-3886.360916

By:

Garg, Kanwaljeet;
Tandon, Vivek;
Kumar, Rajinder;
Chandra, P;
Kale, Shashank;
Sharma, Bhawani;
Mahapatra, Ashok;
Chandra, P Sarat;
Kale, Shashank S;
Sharma, Bhawani Shankar;
Mahapatra, Ashok K

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

Paroxysmal Dysarthria Ataxia-Tremor-Blepharospasm Syndrome in Bickerstaff Brainstem Encephalitis; A Variant of Paroxysmal Dysarthria Ataxia Syndrome.

Published in:

2022

By:

Maramattom, Boby;
Maramattom, Boby Varkey

Publication type:

Letter

The Effect of the Activation of the Core Muscles on Tremor in a Patient with Multiple Sclerosis.

Published in:

2021

By:

Usta, Aysegul;
Salcı, Yeliz;
Yildiz, Fatma;
Çakmaklı, Gül;
Armutlu, Kadriye;
Yildiz, Fatma Gökcem;
Çakmaklı, Gül Yalçın

Publication type:

Case Study

Lamotrigine-Associated Movement Disorder: A Literature Review.

Published in:

2021

By:

Rissardo, Jamir;
Fornari Caprara, Ana;
Rissardo, Jamir Pitton;
Fornari Caprara, Ana L

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

Paroxysmal Dysarthria Ataxia-Tremor-Blepharospasm Syndrome in Bickerstaff Brainstem Encephalitis: A Variant of Paroxysmal Dysarthria Ataxia Syndrome.

Published in:

2021

By:

Ferrante, Enrico;
Trimboli, Michele

Publication type:

Letter

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

Tumors masquerading as neurological diseases: A caution for clinicians in planning diagnosis and treatment.

Published in:

2020

By:

Vidhya Annapoorni, C;
Retnaswami, Chandra;
Mailankody, Pooja;
Katragadda, Pavan;
Pillai, Sivakumar;
Rangarajan, Anush;
Padmanabha, Hansashree;
Pendharkar, Hima;
Vidhya Annapoorni, C S;
Retnaswami, Chandra Sadanandavalli;
Pillai, Sivakumar Krishna

Publication type:

journal article

Paroxysmal Dysarthria Ataxia-Tremor-Blepharospasm Syndrome in Bickerstaff Brainstem Encephalitis: A Variant of Paroxysmal Dysarthria Ataxia Syndrome.

Published in:

2019

By:

Maramattom, Boby;
Maramattom, Boby Varkey

Publication type:

Case Study

Opsoclonus myoclonus ataxia syndrome.

Published in:

2018

By:

Khadilkar, Satish;
Benny, Rajesh

Publication type:

journal article

Episodic ataxia in a child with senataxin mutation.

Published in:

2018

By:

Sesh, S.;
Radhakrishnan, Ashalatha

Publication type:

Case Study

Diffuse cerebellar hypometabolism in 18FDG PET-CT in two long-term followed patients with diagnosis of nonprogressive congenital ataxia.

Published in:

2018

By:

Don-Kyu Kim;
Si Hyun Kang;
Kyung Mook Seo;
Kim, Don-Kyu;
Kang, Si Hyun;
Seo, Kyung Mook

Publication type:

Case Study

Effects of Sex and Gender on Adaptation to Space: Neurosensory Systems.

Published in:

2014

By:

Reschke, Millard F.;
Cohen, Helen S.;
Cerisano, Jody M.;
Clayton, Janine A.;
Cromwell, Ronita;
Danielson, Richard W.;
Hwang, Emma Y.;
Tingen, Candace;
Allen, John R.;
Tomko, David L.

Publication type:

Journal Article

Mitochondrial dysfunction in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome: prospect use of antioxidants and mitochondrial nutrients.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09415-7

By:

Pagano, Giovanni;
Lyakhovich, Alex;
Pallardó, Federico V.;
Tiano, Luca;
Zatterale, Adriana;
Trifuoggi, Marco

Publication type:

Article

Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia.

Published in:

Pediatric Cardiology, 2025, v. 46, n. 2, p. 379, doi. 10.1007/s00246-024-03429-5

By:

Lynch, David R.;
Subramony, Sub;
Lin, Kimberly Y.;
Mathews, Katherine;
Perlman, Susan;
Yoon, Grace;
Rummey, Christian

Publication type:

Article

Myocardial Perfusion Reserve in Children with Friedreich Ataxia.

Published in:

Pediatric Cardiology, 2021, v. 42, n. 8, p. 1834, doi. 10.1007/s00246-021-02675-1

By:

Hutchens, Jeffrey A.;
Johnson, Tiffanie R.;
Payne, R. Mark

Publication type:

Article

Balance in multiple sclerosis: relationship to central brain regions.

Published in:

Experimental Brain Research, 2018, v. 236, n. 10, p. 2739, doi. 10.1007/s00221-018-5332-1

By:

Doty, Richard L.;
MacGillivray, Michael R.;
Talab, Hussam;
Tourbier, Isabelle;
Reish, Megan;
Davis, Sherrie;
Cuzzocreo, Jennifer L.;
Shepard, Neil T.;
Pham, Dzung L.

Publication type:

Article

Trace eyeblink conditioning in patients with cerebellar degeneration: comparison of short and long trace intervals.

Published in:

Experimental Brain Research, 2008, v. 187, n. 1, p. 85, doi. 10.1007/s00221-008-1283-2

By:

Gerwig, M.;
Eßer, A. C.;
Guberina, H.;
Frings, M.;
Kolb, F. P.;
Forsting, M.;
Aurich, V.;
Beck, A.;
Timmann, D.

Publication type:

Article

Bilateral parietal lesions disrupt the beneficial effects of prism adaptation: evidence from a patient with optic ataxia.

Published in:

Experimental Brain Research, 2008, v. 187, n. 2, p. 295, doi. 10.1007/s00221-008-1303-2

By:

Striemer, Christopher;
Blangero, Annabelle;
Rossetti, Yves;
Boisson, Dominique;
Rode, Gilles;
Salemme, Romeo;
Vighetto, Alain;
Pisella, Laure;
Danckert, James

Publication type:

Article

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.

Published in:

2016

By:

Nair, Pratibha;
Hamzeh, abdul Rezzak;
Mohamed, Madiha;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

Auditory Perception in Individuals with Friedreich’s Ataxia.

Published in:

Audiology & Neurotology, 2010, v. 15, n. 4, p. 229, doi. 10.1159/000255341

By:

Rance, Gary;
Corben, Louise;
Barker, Elizabeth;
Carew, Peter;
Chisari, Donella;
Rogers, Meghan;
Dowell, Richard;
Jamaluddin, Saiful;
Bryson, Rochelle;
Delatycki, Martin B.

Publication type:

Article

The Effect of the Physiotherapy Program in Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): A Case Report.

Published in:

Istanbul Gelisim University Journal of Health Sciences / İstanbul Gelişim Üniversitesi Sağlık Bilimleri Dergisi, 2023, n. 19, p. 340, doi. 10.38079/igusabder.1159162

By:

KARABACAK, Neslihan;
SARI, Zübeyir

Publication type:

Article

Electrophysiological Effects of Chronic Lead Treatment on Synaptic Transmission in Murine Dorsiflexor Muscle.

Published in:

Bulletin of Environmental Contamination & Toxicology, 2000, v. 64, n. 4, p. 593, doi. 10.1007/s001280000044

By:

Hasan, M. Y.;
Fahim, M. A.;
Al Shuaib, W. B.

Publication type:

Article

Effects of structure, atropine, and dosing regimen on the delayed neurotoxicity of the insecticide EPN.

Published in:

Bulletin of Environmental Contamination & Toxicology, 1987, v. 38, n. 2, p. 283, doi. 10.1007/BF01606675

By:

Francis, B.

Publication type:

Article

Hypomagnesemia, a Rare Cause of Reversible Ataxia.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.749

By:

López Domínguez, Daniel;
Álvarez-Cienfuegos, Juan Rodríguez;
Vera Cáceres, Carla Herminia

Publication type:

Article

ATP1A3-Associated Paroxysmal Dystonia.

Published in:

2024

By:

Ledoux, Mark S.

Publication type:

Case Study

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