| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Esther A R Nibbeling, Cathérine C S Delnooz, Tom J de Koning, Richard J Sinke, Hyder A Jinnah, Marina A J Tijssen, Dineke S Verbee. Using the shared genetics of dystonia and ataxia to unravel their pathogenesis. Neuroscience and biobehavioral reviews. vol 75. 2017-10-24. PMID:28143763. |
the spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. |
2017-10-24 |
2023-08-13 |
Not clear |
| Tessa van Dijk, Peter Barth, Liesbeth Reneman, Bart Appelhof, Frank Baas, Bwee Tien Poll-Th. A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's. American journal of medical genetics. Part A. vol 173. issue 1. 2017-10-19. PMID:27862915. |
a de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: expanding the phenotype of itpr1-related spinocerebellar ataxia's. |
2017-10-19 |
2023-08-13 |
Not clear |
| Joakim Klar, Zafar Ali, Muhammad Farooq, Kamal Khan, Johan Wikström, Maria Iqbal, Shumaila Zulfiqar, Sanam Faryal, Shahid Mahmood Baig, Niklas Dah. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. European journal of human genetics : EJHG. vol 25. issue 7. 2017-09-28. PMID:28488678. |
spinocerebellar ataxias (sca) comprise a heterogeneous group of inherited neurological disorders characterized by a range of symptoms from both cerebellar and extra cerebellar structures. |
2017-09-28 |
2023-08-13 |
Not clear |
| Anton N Shuvaev, Nobutake Hosoi, Yamato Sato, Dai Yanagihara, Hirokazu Hira. Progressive impairment of cerebellar mGluR signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. The Journal of physiology. vol 595. issue 1. 2017-09-25. PMID:27440721. |
progressive impairment of cerebellar mglur signalling and its therapeutic potential for cerebellar ataxia in spinocerebellar ataxia type 1 model mice. |
2017-09-25 |
2023-08-13 |
mouse |
| Sheng-Han Kuo, Chi-Ying Lin, Jie Wang, Peter A Sims, Ming-Kai Pan, Jyun-You Liou, Danielle Lee, William J Tate, Geoffrey C Kelly, Elan D Louis, Phyllis L Faus. Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases. Acta neuropathologica. vol 133. issue 1. 2017-09-22. PMID:27704282. |
we assessed cf-pc synaptic pathology in the postmortem cerebellum across a range of degenerative movement disorders [10 parkinson's disease (pd) cases, 10 multiple system atrophy (msa) cases, 10 spinocerebellar ataxia type 1 (sca1) cases, and 20 et cases] and 25 controls. |
2017-09-22 |
2023-08-13 |
Not clear |
| Katsuya Nakamura, Kunihiro Yoshida, Akira Matsushima, Yusaku Shimizu, Shunichi Sato, Hiroyuki Yahikozawa, Shinji Ohara, Masanobu Yazawa, Masao Ushiyama, Mitsuto Sato, Hiroshi Morita, Atsushi Inoue, Shu-Ichi Iked. Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study. Cerebellum (London, England). vol 16. issue 2. 2017-09-22. PMID:27830516. |
spinocerebellar ataxia type 31 (sca31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of sca31 has not been done yet. |
2017-09-22 |
2023-08-13 |
Not clear |
| Sriram Jayabal, Lovisa Ljungberg, Alanna J Wat. Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. The Journal of physiology. vol 595. issue 3. 2017-09-21. PMID:27531396. |
transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. |
2017-09-21 |
2023-08-13 |
mouse |
| Sriram Jayabal, Lovisa Ljungberg, Alanna J Wat. Transient cerebellar alterations during development prior to obvious motor phenotype in a mouse model of spinocerebellar ataxia type 6. The Journal of physiology. vol 595. issue 3. 2017-09-21. PMID:27531396. |
spinocerebellar ataxia type 6 (sca6) is a midlife-onset neurodegenerative disease caused by a cacna1a mutation; cacna1a is also implicated in cerebellar development. |
2017-09-21 |
2023-08-13 |
mouse |
| Swati Khare, Jerelyn A Nick, Yalan Zhang, Kira Galeano, Brittany Butler, Habibeh Khoshbouei, Sruti Rayaprolu, Tyisha Hathorn, Laura P W Ranum, Lisa Smithson, Todd E Golde, Martin Paucar, Richard Morse, Michael Raff, Julie Simon, Magnus Nordenskjöld, Karin Wirdefeldt, Diego E Rincon-Limas, Jada Lewis, Leonard K Kaczmarek, Pedro Fernandez-Funez, Harry S Nick, Michael F Water. A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. PloS one. vol 12. issue 5. 2017-09-19. PMID:28467418. |
the autosomal dominant spinocerebellar ataxias (scas) are a diverse group of neurological disorders anchored by the phenotypes of motor incoordination and cerebellar atrophy. |
2017-09-19 |
2023-08-13 |
human |
| 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 |