| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Chih-Chun Lin, Shi-Rui Gan, Deepak Gupta, Armin Alaedini, Peter H Green, Sheng-Han Ku. Hispanic Spinocerebellar Ataxia Type 35 (SCA35) with a Novel Frameshift Mutation. Cerebellum (London, England). vol 18. issue 2. 2019-07-30. PMID:30229425. |
an immune-mediated ataxia previously found to be associated with autoantibody reactivity to tg6 may share a similar pathomechanism to sca35, suggesting a converging role for tg6 in cerebellar function. |
2019-07-30 |
2023-08-13 |
Not clear |
| Ilse Eidhof, Bart P van de Warrenburg, Annette Schenc. SnapShot: Biology of Genetic Ataxias. Cell. vol 175. issue 3. 2019-07-29. PMID:30340048. |
genetic ataxias are a clinically important group of disabling, mostly neurodegenerative, diseases of the cerebellum. |
2019-07-29 |
2023-08-13 |
Not clear |
| Ilse Eidhof, Bart P van de Warrenburg, Annette Schenc. SnapShot: Biology of Genetic Ataxias. Cell. vol 175. issue 3. 2019-07-29. PMID:30340048. |
this snapshot shows that the vast majority of established monogenic causes of dominant and recessive ataxias can be captured by a limited number of affected cellular components and biological processes in the cerebellum. |
2019-07-29 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Mario Manto, Christiane S Hamp. Time Is Cerebellum. Cerebellum (London, England). vol 17. issue 4. 2019-07-23. PMID:29460203. |
based on the motto of "time is brain," a warning that stresses the importance of early therapeutic intervention in ischemic diseases, we propose "time is cerebellum" as a principle in the management of patients with cerebellar diseases, especially immune ataxias whose complexity often delay the therapeutic intervention. |
2019-07-23 |
2023-08-13 |
Not clear |
| Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munho. Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. Cerebellum (London, England). vol 17. issue 3. 2019-07-22. PMID:29248984. |
autosomal recessive cerebellar ataxias (arcas) represent a heterogeneous group of inherited disorders. |
2019-07-22 |
2023-08-13 |
Not clear |
| Marc Corral-Juan, Carmen Serrano-Munuera, Alberto Rábano, Daniel Cota-González, Anna Segarra-Roca, Lourdes Ispierto, Antonio Tomás Cano-Orgaz, Astrid D Adarmes, Carlota Méndez-Del-Barrio, Silvia Jesús, Pablo Mir, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sánchez, Antoni Matilla-Dueña. Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. Brain : a journal of neurology. vol 141. issue 7. 2019-07-17. PMID:29939198. |
we previously reported a novel spinocerebellar ataxia type subtype, sca37, linked to an 11-mb genomic region on 1p32, in a large spanish ataxia pedigree characterized by ataxia and a pure cerebellar syndrome distinctively presenting with early-altered vertical eye movements. |
2019-07-17 |
2023-08-13 |
Not clear |
| Ilse Eidhof, Jonathan Baets, Erik-Jan Kamsteeg, Tine Deconinck, Lisa van Ninhuijs, Jean-Jacques Martin, Rebecca Schüle, Stephan Züchner, Peter De Jonghe, Annette Schenck, Bart P van de Warrenbur. GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia. Brain : a journal of neurology. vol 141. issue 9. 2019-07-17. PMID:30084953. |
autosomal recessive cerebellar ataxias are a group of rare disorders that share progressive degeneration of the cerebellum and associated tracts as the main hallmark. |
2019-07-17 |
2023-08-13 |
drosophila_melanogaster |
| Maxime W C Rousseaux, Tyler Tschumperlin, Hsiang-Chih Lu, Elizabeth P Lackey, Vitaliy V Bondar, Ying-Wooi Wan, Qiumin Tan, Carolyn J Adamski, Jillian Friedrich, Kirk Twaroski, Weili Chen, Jakub Tolar, Christine Henzler, Ajay Sharma, Aleksandar Bajić, Tao Lin, Lisa Duvick, Zhandong Liu, Roy V Sillitoe, Huda Y Zoghbi, Harry T Or. ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism. Neuron. vol 97. issue 6. 2019-07-15. PMID:29526553. |
importantly, loss of cic in the cerebellum does not cause ataxia or purkinje cell degeneration. |
2019-07-15 |
2023-08-13 |
Not clear |
| Stéphanie Valence, Emmanuelle Cochet, Christelle Rougeot, Catherine Garel, Sandra Chantot-Bastaraud, Elodie Lainey, Alexandra Afenjar, Marie-Anne Barthez, Nathalie Bednarek, Diane Doummar, Laurence Faivre, Cyril Goizet, Damien Haye, Bénédicte Heron, Isabelle Kemlin, Didier Lacombe, Mathieu Milh, Marie-Laure Moutard, Florence Riant, Stéphanie Robin, Agathe Roubertie, Pierre Sarda, Annick Toutain, Laurent Villard, Dorothée Ville, Thierry Billette de Villemeur, Diana Rodriguez, Lydie Burgle. Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies. Genetics in medicine : official journal of the American College of Medical Genetics. vol 21. issue 3. 2019-07-15. PMID:29997391. |
to investigate the genetic basis of congenital ataxias (cas), a unique group of cerebellar ataxias with a nonprogressive course, in 20 patients from consanguineous families, and to identify new ca genes. |
2019-07-15 |
2023-08-13 |
Not clear |
| Jan Cendelin, Hiroshi Mitoma, Mario Mant. Neurotransplantation Therapy and Cerebellar Reserve. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:28799490. |
neurotransplantation has been recently the focus of interest as a promising therapy to substitute lost cerebellar neurons and improve cerebellar ataxias. |
2019-07-11 |
2023-08-13 |
Not clear |
| Shinji Kakei, Takahiro Ishikawa, Jongho Lee, Takeru Honda, Donna S Hoffma. Physiological and Morphological Principles Underpinning Recruitment of the Cerebellar Reserve. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29546837. |
in order to optimize outcomes of novel therapies for cerebellar ataxias (cas), it is desirable to start these therapies while declined functions are restorable: i.e. |
2019-07-11 |
2023-08-13 |
Not clear |
| Chiara Di Nuzzo, Fabiana Ruggiero, Francesca Cortese, Ilaria Cova, Alberto Priori, Roberta Ferrucc. Non-invasive Cerebellar Stimulation in Cerebellar Disorders. CNS & neurological disorders drug targets. vol 17. issue 3. 2019-07-11. PMID:29623859. |
in the presence of cerebellar dysfunction, several movement disorders, such as kinetic tremor, ataxia of gait, limb dysmetria and oculomotor deficits, become progressively more disabling in daily life, and no pharmacological treatments currently exist. |
2019-07-11 |
2023-08-13 |
human |
| Yujiro Higuchi, Ryuta Okunushi, Taichi Hara, Akihiro Hashiguchi, Junhui Yuan, Akiko Yoshimura, Kei Murayama, Akira Ohtake, Masahiro Ando, Yu Hiramatsu, Satoshi Ishihara, Hajime Tanabe, Yuji Okamoto, Eiji Matsuura, Takehiro Ueda, Tatsushi Toda, Sumimasa Yamashita, Kenichiro Yamada, Takashi Koide, Hiroaki Yaguchi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Ken Sato, Masanori Nakagawa, Masamitsu Yamaguchi, Shoji Tsuji, Hiroshi Takashim. Mutations in COA7 cause spinocerebellar ataxia with axonal neuropathy. Brain : a journal of neurology. vol 141. issue 6. 2019-07-08. PMID:29718187. |
we also found that all four patients had characteristic neurological features of peripheral neuropathy and ataxia with cerebellar atrophy, and some patients showed leukoencephalopathy or spinal cord atrophy on mri scans. |
2019-07-08 |
2023-08-13 |
drosophila_melanogaster |
| Maria T D Gama, Camila C Piccinin, Thiago J R Rezende, Patrick A Dion, Guy A Rouleau, Marcondes C França Junior, Orlando G P Barsottini, José Luiz Pedros. Multimodal neuroimaging analysis in patients with SYNE1 Ataxia. Journal of the neurological sciences. vol 390. 2019-07-01. PMID:29801895. |
the gene syne1 is highly expressed in the cerebellum and its dysfunction is related to an autosomal recessive ataxia (syne1-ataxia). |
2019-07-01 |
2023-08-13 |
Not clear |
| Chloé Angelini, Julien Van Gils, Antoine Bigourdan, Pierre-Simon Jouk, Didier Lacombe, Patrice Menegon, Sébastien Moutton, Florence Riant, Guilhem Sole, Elisabeth Tournier-Lasserve, Aurélien Trimouille, Marie Vincent, Cyril Goize. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant. European journal of medical genetics. vol 62. issue 6. 2019-06-21. PMID:30142438. |
the index case had early-onset epileptic encephalopathy with progressive cerebellar atrophy, although his mother and his great-grandmother suffered from paroxystic episodic ataxia. |
2019-06-21 |
2023-08-13 |
Not clear |
| Cecile Lebon, Francine Behar-Cohen, Alicia Torrigli. Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. Neuroscience. vol 400. 2019-06-21. PMID:30625334. |
spino-cerebellar ataxia type 7 (sca7) is a polyglutamine (polyq) disorder characterized by neurodegeneration of the brain, cerebellum, and retina caused by a polyglutamine expansion in ataxin7. |
2019-06-21 |
2023-08-13 |
mouse |
| G E Rudenskaya, E I Surkova, F A Konovalo. [Ataxia with oculomotor apraxia type 4 detected by next-generation sequencing]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. vol 118. issue 3. 2019-06-10. PMID:29652299. |
he presented with ataxia since 2 years and deterioration in 8 years, oculomotor apraxia, dystonic hyperkinesia, dysarthria, polyneuropathy, borderline/mildly impaired intelligence, cerebellar atrophy on mri and moderate hypercholesterolemia. |
2019-06-10 |
2023-08-13 |
Not clear |
| Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. |
the inherited cerebellar ataxias comprise of a genetic heterogeneous group of disorders. |
2019-06-07 |
2023-08-13 |
Not clear |
| Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. |
pathogenic expansions of cytosine-adenine-guanine (cag) encoding polyglutamine tracts account for the largest proportion of autosomal dominant cerebellar ataxias, while gaa expansion in the first introns of frataxin gene is the commonest cause of autosomal recessive cerebellar ataxias. |
2019-06-07 |
2023-08-13 |
Not clear |
| Wai Yan Yau, Emer O'Connor, Roisin Sullivan, Layan Akijian, Nicholas W Woo. DNA repair in trinucleotide repeat ataxias. The FEBS journal. vol 285. issue 19. 2019-06-07. PMID:30152109. |
in this review, we discuss the mechanisms in which dna repair pathways, epigenetics and other genetic factors may act as modifiers in cerebellar ataxias due to trinucleotide repeat expansions. |
2019-06-07 |
2023-08-13 |
Not clear |