| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Emma Perkins, Daumante Suminaite, Mandy Jackso. Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways. The Journal of physiology. vol 594. issue 16. 2017-08-29. PMID:26821241. |
spinocerebellar ataxias (scas) are a genetically heterogeneous group of disorders all characterised by postural abnormalities, motor deficits and cerebellar degeneration. |
2017-08-29 |
2023-08-13 |
Not clear |
| Minyoung Oh, Jae Seung Kim, Jungsu S Oh, Chong Sik Lee, Sun Ju Chun. Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. PloS one. vol 12. issue 3. 2017-08-23. PMID:28319124. |
we retrospectively analyzed 18f-fluorodeoxyglucose positron emission tomography (18f-fdg pet) images in 44 patients with multiple system atrophy of the cerebellar type (msa-c), 9 patients with spinocerebellar ataxia (sca) type 2, and 14 patients with sca type 6 and compared with 15 patients with crossed cerebellar diaschisis (ccd) and 89 normal controls. |
2017-08-23 |
2023-08-13 |
Not clear |
| Ivelisse Sánchez, Eudald Balagué, Antoni Matilla-Dueña. Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). Human molecular genetics. vol 25. issue 18. 2017-07-20. PMID:27466200. |
ataxin-1 regulates the cerebellar bioenergetics proteome through the gsk3β-mtor pathway which is altered in spinocerebellar ataxia type 1 (sca1). |
2017-07-20 |
2023-08-13 |
mouse |
| Ivelisse Sánchez, Eudald Balagué, Antoni Matilla-Dueña. Ataxin-1 regulates the cerebellar bioenergetics proteome through the GSK3β-mTOR pathway which is altered in Spinocerebellar ataxia type 1 (SCA1). Human molecular genetics. vol 25. issue 18. 2017-07-20. PMID:27466200. |
a polyglutamine expansion within the ataxin-1 protein (atxn1) underlies spinocerebellar ataxia type-1 (sca1), a neurological disorder mainly characterized by ataxia and cerebellar deficits. |
2017-07-20 |
2023-08-13 |
mouse |
| Marie Coutelier, Giulia Coarelli, Marie-Lorraine Monin, Juliette Konop, Claire-Sophie Davoine, Christelle Tesson, Rémi Valter, Mathieu Anheim, Anthony Behin, Giovanni Castelnovo, Perrine Charles, Albert David, Claire Ewenczyk, Mélanie Fradin, Cyril Goizet, Didier Hannequin, Pierre Labauge, Florence Riant, Pierre Sarda, Yves Sznajer, François Tison, Urielle Ullmann, Lionel Van Maldergem, Fanny Mochel, Alexis Brice, Giovanni Stevanin, Alexandra Dur. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology. vol 140. issue 6. 2017-07-19. PMID:28444220. |
after exclusion of cag/polyglutamine expansions in spinocerebellar ataxia genes in 412 index cases with dominantly inherited cerebellar ataxias, we aimed to establish the relative frequencies of mutations in other genes, with an approach combining panel sequencing and taqman® polymerase chain reaction assay. |
2017-07-19 |
2023-08-13 |
Not clear |
| Fathul Huda, Yiping Fan, Mamiko Suzuki, Ayumu Konno, Yasunori Matsuzaki, Nobutaka Takahashi, Jerry K Y Chan, Hirokazu Hira. Fusion of Human Fetal Mesenchymal Stem Cells with "Degenerating" Cerebellar Neurons in Spinocerebellar Ataxia Type 1 Model Mice. PloS one. vol 11. issue 11. 2017-06-21. PMID:27802273. |
fusion of human fetal mesenchymal stem cells with "degenerating" cerebellar neurons in spinocerebellar ataxia type 1 model mice. |
2017-06-21 |
2023-08-13 |
mouse |
| Letterio Salvatore Politi, Stefania Bianchi Marzoli, Claudia Godi, Marta Panzeri, Paola Ciasca, Gianluca Brugnara, Anna Castaldo, Daniela Di Bella, Franco Taroni, Lorenzo Nanetti, Caterina Mariott. MRI Evidence of Cerebellar and Extraocular Muscle Atrophy Differently Contributing to Eye Movement Abnormalities in SCA2 and SCA28 Diseases. Investigative ophthalmology & visual science. vol 57. issue 6. 2017-06-15. PMID:27196319. |
spinocerebellar ataxias type 2 and 28 (sca2, sca28) are autosomal dominant disorders characterized by progressive cerebellar and oculomotor abnormalities. |
2017-06-15 |
2023-08-13 |
Not clear |
| Yasuo Terao, Hideki Fukuda, Shin-Ichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yoshikazu Ugaw. Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 128. issue 1. 2017-05-31. PMID:27866117. |
distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (msa-c) through saccade profiles. |
2017-05-31 |
2023-08-13 |
Not clear |
| Yasuo Terao, Hideki Fukuda, Shin-Ichi Tokushige, Satomi Inomata-Terada, Akihiro Yugeta, Masashi Hamada, Yoshikazu Ugaw. Distinguishing spinocerebellar ataxia with pure cerebellar manifestation from multiple system atrophy (MSA-C) through saccade profiles. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 128. issue 1. 2017-05-31. PMID:27866117. |
patients with spinocerebellar ataxia with pure cerebellar presentation (scd) and multiple system atrophy (msa-c) show similar symptoms at early stages, although cerebellofugal pathology predominates in scd, and cerebellopetal pathology in msa-c. we studied whether saccade velocity profiles, which reflect the accelerating and braking functions of the cerebellum, can differentiate these two disorders. |
2017-05-31 |
2023-08-13 |
Not clear |
| Luis Velázquez-Pérez, Roberto Rodríguez-Labrada, Reidenis Torres-Vega, Jacqueline Medrano Montero, Yaimeé Vázquez-Mojena, Georg Auburger, Ulf Zieman. Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 127. issue 8. 2017-05-26. PMID:27417041. |
to evaluate if the corticospinal tract is affected in the prodromal stage of spinocerebellar ataxia type 2 (sca2), prior to development of the cerebellar syndrome. |
2017-05-26 |
2023-08-13 |
Not clear |
| Michelle A Farrar, Steve Vucic, Garth Nicholson, Matthew C Kierna. Motor cortical dysfunction develops in spinocerebellar ataxia type 3. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 127. issue 11. 2017-05-24. PMID:27689815. |
spinocerebellar ataxia type 3 (sca3) is an inherited neurodegenerative disorder characterized by cerebellar ataxia and variable expression of clinical features beyond the cerebellum. |
2017-05-24 |
2023-08-13 |
Not clear |
| Robert J Ure, Sanveer Dhanju, Anthony E Lang, Alfonso Fasan. Unusual tremor syndromes: know in order to recognise. Journal of neurology, neurosurgery, and psychiatry. vol 87. issue 11. 2017-05-17. PMID:26985048. |
the review includes fragile x-associated tremor/ataxia syndrome, spinocerebellar ataxia type 12, tremors caused by autosomal recessive cerebellar ataxias, myorhythmia, isolated tongue tremor, wilson's disease, slow orthostatic tremor, peripheral trauma-induced tremor, tardive tremor and rabbit syndrome, paroxysmal tremors (hereditary chin tremor, bilateral high-frequency synchronous discharges, head tremor, limb-shaking transient ischaemic attack), bobble-head doll syndrome, spasmus nutans and shuddering attacks. |
2017-05-17 |
2023-08-13 |
rabbit |
| Gerson da Silva Carvalho, Jonas Alex Morales Saute, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Gheno, Aline Russo, Thais Lampert Monte, Artur Schumacher-Schuh, Rui D'Avila, Karina Carvalho Donis, Raphael Machado Castilhos, Diogo Onofre Souza, Maria Luiza Saraiva-Pereira, Vanessa Leotti Torman, Suzi Camey, Luis Valmor Portela, Laura Bannach Jardi. Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3. Cerebellum (London, England). vol 15. issue 4. 2017-03-06. PMID:26395908. |
age at onset, disease duration, and clinical scales scale for the assessment and rating of ataxia (sara), neurological examination score for spinocerebellar ataxias (nessca), sca functional index (scafi), and composite cerebellar functional score (ccfs) were obtained from the symptomatic carriers. |
2017-03-06 |
2023-08-13 |
Not clear |
| Mario Manto, Christophe Haba. Cerebellar disorders: clinical/radiologic findings and modern imaging tools. Handbook of clinical neurology. vol 135. 2017-02-10. PMID:27432679. |
genetic ataxias include mainly four groups of disorders: autosomal-recessive cerebellar ataxias, autosomal-dominant ataxias (spinocerebellar ataxias and episodic ataxias), mitochondrial disorders, and x-linked ataxias. |
2017-02-10 |
2023-08-13 |
Not clear |
| Anju Shukla, Priyanka Upadhyai, Jhanvi Shah, K Neethukrishna, Stephanie Bielas, K M Girish. Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature. European journal of medical genetics. vol 60. issue 2. 2017-02-10. PMID:27913285. |
autosomal recessive spinocerebellar ataxia 20 (scar20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of purkinje cells in the cerebellum and often hearing loss and skeletal abnormalities. |
2017-02-10 |
2023-08-13 |
Not clear |
| Irene Paradisi, Vassiliki Ikonomu, Sergio Aria. Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent. Journal of human genetics. vol 61. issue 3. 2016-12-30. PMID:26538302. |
dominantly inherited ataxias (spinocerebellar ataxias, scas) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. |
2016-12-30 |
2023-08-13 |
Not clear |
| Carlos R Hernandez-Castillo, Victor Galvez, Rosalinda Diaz, Juan Fernandez-Rui. Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7. Brain imaging and behavior. vol 10. issue 1. 2016-12-13. PMID:25917872. |
specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7. |
2016-12-13 |
2023-08-13 |
human |
| Zhen Yang, Chuyang Ye, John A Bogovic, Aaron Carass, Bruno M Jedynak, Sarah H Ying, Jerry L Princ. Automated cerebellar lobule segmentation with application to cerebellar structural analysis in cerebellar disease. NeuroImage. vol 127. 2016-12-13. PMID:26408861. |
the proposed method was then applied to 77 subjects to study the region-specific cerebellar structural differences in three spinocerebellar ataxia (sca) genetic subtypes. |
2016-12-13 |
2023-08-13 |
human |
| C J L M Smeets, D S Verbee. Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control. Neurobiology of disease. vol 88. 2016-12-13. PMID:26792399. |
the spinocerebellar ataxias (scas) form an ever-growing group of neurodegenerative disorders causing dysfunction of the cerebellum and loss of motor control in patients. |
2016-12-13 |
2023-08-13 |
Not clear |
| Lipin Liang, Tao Chen, Yan W. The electrophysiology of spinocerebellar ataxias. Neurophysiologie clinique = Clinical neurophysiology. vol 46. issue 1. 2016-12-13. PMID:26947625. |
spinocerebellar ataxias (scas) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. |
2016-12-13 |
2023-08-13 |
Not clear |