Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Magdalena Krygier, Maria Mazurkiewicz-Bełdzińsk. Milestones in genetics of cerebellar ataxias. Neurogenetics. vol 22. issue 4. 2021-10-29. PMID:34224032. |
milestones in genetics of cerebellar ataxias. |
2021-10-29 |
2023-08-13 |
Not clear |
Magdalena Krygier, Maria Mazurkiewicz-Bełdzińsk. Milestones in genetics of cerebellar ataxias. Neurogenetics. vol 22. issue 4. 2021-10-29. PMID:34224032. |
cerebellar ataxias (cas) comprise a group of rare, neurological disorders characterized by extensive phenotypic and genetic heterogeneity. |
2021-10-29 |
2023-08-13 |
Not clear |
Raghavendra Y Nagaraja, David M Sherry, Jennifer L Fessler, Megan A Stiles, Feng Li, Karanpreet Multani, Albert Orock, Mohiuddin Ahmad, Richard S Brush, Robert E Anderson, Martin-Paul Agbaga, Ferenc Deá. W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34. Molecular neurobiology. vol 58. issue 10. 2021-10-27. PMID:34227061. |
spinocerebellar ataxia (sca) is a neurodegenerative disorder characterized by ataxia and cerebellar atrophy. |
2021-10-27 |
2023-08-13 |
rat |
Raghavendra Y Nagaraja, David M Sherry, Jennifer L Fessler, Megan A Stiles, Feng Li, Karanpreet Multani, Albert Orock, Mohiuddin Ahmad, Richard S Brush, Robert E Anderson, Martin-Paul Agbaga, Ferenc Deá. W246G Mutant ELOVL4 Impairs Synaptic Plasticity in Parallel and Climbing Fibers and Causes Motor Defects in a Rat Model of SCA34. Molecular neurobiology. vol 58. issue 10. 2021-10-27. PMID:34227061. |
the results further suggest that ataxia in sca34 patients may arise from a primary impairment of synaptic plasticity and cerebellar network desynchronization before onset of neurodegeneration and progression of the disease at a later age. |
2021-10-27 |
2023-08-13 |
rat |
Petya Bogdanova-Mihaylova, Josephine Hebert, Sharon Moran, Michael Murphy, Deirdre Ward, Richard A Walsh, Sinéad M Murph. Inherited Cerebellar Ataxias: 5-Year Experience of the Irish National Ataxia Clinic. Cerebellum (London, England). vol 20. issue 1. 2021-10-25. PMID:32816195. |
inherited cerebellar ataxias: 5-year experience of the irish national ataxia clinic. |
2021-10-25 |
2023-08-13 |
Not clear |
Amanda S Therrien, Matthew A Statton, Amy J Bastia. Reinforcement Signaling Can Be Used to Reduce Elements of Cerebellar Reaching Ataxia. Cerebellum (London, England). vol 20. issue 1. 2021-10-25. PMID:32880848. |
reinforcement signaling can be used to reduce elements of cerebellar reaching ataxia. |
2021-10-25 |
2023-08-13 |
human |
Mario Manto, Aasef G Shaikh, Hiroshi Mitom. Identification of the Prodromal Symptoms and Pre-Ataxic Stage in Cerebellar Disorders: The Next Challenge. International journal of environmental research and public health. vol 18. issue 19. 2021-10-25. PMID:34639359. |
cerebellar ataxias (cas) manifest with a combination of motor incoordination, cognitive, affective and recently identified social symptoms. |
2021-10-25 |
2023-08-13 |
Not clear |
Hao-Ling Cheng, Ya-Ru Shao, Yi Dong, Hai-Lin Dong, Lu Yang, Yin Ma, Ying Shen, Zhi-Ying W. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Translational neurodegeneration. vol 10. issue 1. 2021-10-23. PMID:34663476. |
genetic spectrum and clinical features in a cohort of chinese patients with autosomal recessive cerebellar ataxias. |
2021-10-23 |
2023-08-13 |
Not clear |
Carina França, Daniel C de Andrade, Valquíria Silva, Ricardo Galhardoni, Egberto R Barbosa, Manoel J Teixeira, Rubens G Cur. Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial. Parkinsonism & related disorders. vol 80. 2021-10-21. PMID:32920321. |
effects of cerebellar transcranial magnetic stimulation on ataxias: a randomized trial. |
2021-10-21 |
2023-08-13 |
Not clear |
Carina França, Daniel C de Andrade, Valquíria Silva, Ricardo Galhardoni, Egberto R Barbosa, Manoel J Teixeira, Rubens G Cur. Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial. Parkinsonism & related disorders. vol 80. 2021-10-21. PMID:32920321. |
we aimed to study, in a double-blind design, whether cerebellar modulation could improve ataxia. |
2021-10-21 |
2023-08-13 |
Not clear |
Minkyeong Kim, Ah Reum Kim, Ji Sun Kim, Jongkyu Park, Jinyoung Youn, Jong Hyeon Ahn, Jun Kyu Mun, Chung Lee, Nam-Soon Kim, Nayoung K D Kim, Woong-Yang Park, Jin Whan Ch. Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders. vol 80. 2021-10-21. PMID:32961395. |
hereditary cerebellar ataxias exhibit heterogeneous phenotypes and genotypes. |
2021-10-21 |
2023-08-13 |
Not clear |
Seow Lin Chuah, Ahmad Tirmizi Jobli, Sharifah Aishah Wan, Cheng Lay Te. Cerebellar degeneration in primary Sjögren syndrome: a case report. Journal of medical case reports. vol 15. issue 1. 2021-10-20. PMID:34663471. |
in this report, we describe a patient with primary sjögren syndrome who presented with ataxia due to cerebellar degeneration. |
2021-10-20 |
2023-08-13 |
Not clear |
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánche. Zebrafish Models of Autosomal Dominant Ataxias. Cells. vol 10. issue 2. 2021-10-18. PMID:33671313. |
hereditary dominant ataxias are a heterogeneous group of neurodegenerative conditions causing cerebellar dysfunction and characterized by progressive motor incoordination. |
2021-10-18 |
2023-08-13 |
zebrafish |
Bastien Allard, Olivier Delcroix, Servane Le Lez-Soquet, Elise Sacaze, Solène Querello. Central Nervous System Involvement of Hemophagocytic Lymphohistiocytosis: When 18F-FDG PET/CT Solves a Complex Diagnostic Investigation. Clinical nuclear medicine. vol 46. issue 10. 2021-10-15. PMID:33883485. |
we report the case of a 4-year-old girl, hospitalized for recurrent cerebellar symptoms (ataxia) associated later with fever and pancytopenia. |
2021-10-15 |
2023-08-13 |
Not clear |
Edgar Chan, Yezen Sammaraiee, Gargi Banerjee, Andreas Flores Martin, Simon Farmer, Peter Cowley, Parag Sayal, Natallia Kharytaniuk, Perla Eleftheriou, John Porter, Natasja van Harskamp, Lisa Cipolotti, David J Werrin. Neuropsychological and neuroimaging characteristics of classical superficial siderosis. Journal of neurology. vol 268. issue 11. 2021-10-13. PMID:33866413. |
to define the neuropsychological and neuroimaging characteristics of classical infratentorial superficial siderosis (iss), a rare but disabling disorder defined by hemosiderin deposition affecting the superficial layers of the cerebellum, brainstem and spinal cord, usually associated with a slowly progressive neurological syndrome of deafness, ataxia and myelopathy. |
2021-10-13 |
2023-08-13 |
Not clear |
Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Dur. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. Genetics in medicine : official journal of the American College of Medical Genetics. vol 23. issue 10. 2021-10-04. PMID:33353973. |
correction: clinical, neuropathological, and genetic characterization of stub1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment. |
2021-10-04 |
2023-08-13 |
Not clear |
Laurence Gauquelin, Taila Hartley, Mark Tarnopolsky, David A Dyment, Bernard Brais, Michael T Geraghty, Martine Tétreault, Sohnee Ahmed, Samantha Rojas, Karine Choquet, Jacek Majewski, François Bernier, Allan Micheil Innes, Guy Rouleau, Oksana Suchowersky, Kym M Boycott, Grace Yoo. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement disorders clinical practice. vol 7. issue 8. 2021-09-30. PMID:33163565. |
channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy. |
2021-09-30 |
2023-08-13 |
Not clear |
Laurence Gauquelin, Taila Hartley, Mark Tarnopolsky, David A Dyment, Bernard Brais, Michael T Geraghty, Martine Tétreault, Sohnee Ahmed, Samantha Rojas, Karine Choquet, Jacek Majewski, François Bernier, Allan Micheil Innes, Guy Rouleau, Oksana Suchowersky, Kym M Boycott, Grace Yoo. Channelopathies Are a Frequent Cause of Genetic Ataxias Associated with Cerebellar Atrophy. Movement disorders clinical practice. vol 7. issue 8. 2021-09-30. PMID:33163565. |
genetic ataxias associated with cerebellar atrophy are a heterogeneous group of conditions, rendering the approach to diagnosis challenging. |
2021-09-30 |
2023-08-13 |
Not clear |
Ana Victoria Marco Hernández, Alfonso Caro, Alejandro Montoya Filardi, Miguel Tomás Vila, Sandra Monfort, Beatriz Beseler Soto, Juan José Nieto-Barceló, Francisco Martíne. Extending the clinical phenotype of SPTAN1: From DEE5 to migraine, epilepsy, and subependymal heterotopias without intellectual disability. American journal of medical genetics. Part A. 2021-09-30. PMID:34590414. |
they range from (1) severe developmental encephalopathy with ataxia and a mild cerebellar atrophy, without epilepsy; (2) moderate intellectual disability, severe language delay, ataxia and tremor; (3) normal intelligence, chronic migraine, and generalized tonic-clonic seizures. |
2021-09-30 |
2023-08-13 |
Not clear |
Sirio Cocozza, Giuseppe Pontillo, Giovanna De Michele, Martina Di Stasi, Elvira Guerriero, Teresa Perillo, Chiara Pane, Anna De Rosa, Lorenzo Ugga, Arturo Brunett. Conventional MRI findings in hereditary degenerative ataxias: a pictorial review. Neuroradiology. vol 63. issue 7. 2021-09-29. PMID:33733696. |
cerebellar ataxias are a large and heterogeneous group of disorders. |
2021-09-29 |
2023-08-13 |
Not clear |