| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Eugen Boltshauser, Konrad P Webe. Laboratory investigations. Handbook of clinical neurology. vol 154. 2018-09-28. PMID:29903445. |
this chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. |
2018-09-28 |
2023-08-13 |
Not clear |
| Mariano Serrao, Alberto Ranavolo, Carlo Casal. Neurophysiology of gait. Handbook of clinical neurology. vol 154. 2018-09-28. PMID:29903447. |
beyond the classic clinical description, recent studies have quantitatively evaluated gait and balance dysfunction in cerebellar ataxias by means of modern motion analysis systems. |
2018-09-28 |
2023-08-13 |
human |
| Egidio D'Angel. Physiology of the cerebellum. Handbook of clinical neurology. vol 154. 2018-09-28. PMID:29903454. |
the cerebellum takes part in motor control and its lesions cause a movement incoordination syndrome called ataxia. |
2018-09-28 |
2023-08-13 |
Not clear |
| Ellen Buckley, Claudia Mazzà, Alisdair McNeil. A systematic review of the gait characteristics associated with Cerebellar Ataxia. Gait & posture. vol 60. 2018-09-26. PMID:29220753. |
cerebellar ataxias are a group of gait disorders resulting from dysfunction of the cerebellum, commonly characterised by slowly progressing incoordination that manifests as problems with balance and walking leading to considerable disability. |
2018-09-26 |
2023-08-13 |
Not clear |
| Arushi Gahlot Saini, Savita Attri, N Sankhyan, Pratibha Singh. Hypomorphic citrullinaemia due to mutated BMJ case reports. vol 2018. 2018-09-24. PMID:29695388. |
we describe an 11-year-old boy with late-onset citrullinaemia manifesting as brief episodes of ataxia triggered by minor febrile illnesses, significant citrullinaemia, mild hyperammonaemia, normal neurological examination and mild cerebellar atrophy. |
2018-09-24 |
2023-08-13 |
Not clear |
| Luis Velázquez-Pérez, Gilberto Sánchez-Cruz, Roberto Rodríguez-Labrada, Mercedes Velázquez-Manresa, Ricardo Hechavarría-Pupo, Luis E Almaguer-Medero. Postural Instability in Prodromal Spinocerebellar Ataxia Type 2: Insights into Cerebellar Involvement Before Onset of Permanent Ataxia. Cerebellum (London, England). vol 16. issue 1. 2018-09-13. PMID:26956609. |
postural instability in prodromal spinocerebellar ataxia type 2: insights into cerebellar involvement before onset of permanent ataxia. |
2018-09-13 |
2023-08-13 |
Not clear |
| G Gousse, H Patural, R Touraine, S Chabrier, E Rolland, J-C Antoine, L Perri. Lethal form of spinocerebellar ataxia type 7 with early onset in childhood. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. vol 25. issue 1. 2018-09-05. PMID:29248324. |
progressive cerebellar ataxias are well-known hereditary neurological disorders. |
2018-09-05 |
2023-08-13 |
Not clear |
| M H D Schoenaker, N J H Van Os, M Van der Flier, M Van Deuren, M M Seyger, A M R Taylor, C M R Weemaes, M A A P Willemse. Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. European journal of medical genetics. vol 61. issue 5. 2018-09-05. PMID:29288088. |
ataxia telangiectasia (at) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. |
2018-09-05 |
2023-08-13 |
human |
| Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa, Misako Kunii, Atsuko Tomita-Katsumoto, Kayoko Oda, Yukie Yamaguchi, Ryoko Fukai, Shingo Ikeda, Rumiko Kato, Katsuhisa Ogata, Shun Kubota, Noriko Hayashi, Keita Takahashi, Mikiko Tada, Kenichi Tanaka, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Tomoo Ogi, Michiko Aihara, Hideyuki Takeuchi, Naomichi Matsumoto, Fumiaki Tanak. Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations. Journal of human genetics. vol 63. issue 4. 2018-09-05. PMID:29403087. |
autosomal recessive cerebellar ataxias (arcas) are clinically and genetically heterogeneous neurological disorders. |
2018-09-05 |
2023-08-13 |
Not clear |
| Tan Li, Yi Liu, Linjie Yu, Jiamin Lao, Meijuan Zhang, Jiali Jin, Zhengjuan Lu, Zhuo Liu, Yun X. Human Umbilical Cord Mesenchymal Stem Cells Protect Against SCA3 by Modulating the Level of 70 kD Heat Shock Protein. Cellular and molecular neurobiology. vol 38. issue 3. 2018-08-29. PMID:28667374. |
emerging studies have reported that human umbilical cord mesenchymal stem cells (huc-mscs) transplantation could be a promising therapeutic strategy for cerebellar ataxias. |
2018-08-29 |
2023-08-13 |
mouse |
| Tahira N Choudry, David Hilton-Jones, Graham Lennox, Henry Houlde. Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy. Practical neurology. vol 18. issue 1. 2018-08-20. PMID:29212862. |
this is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. |
2018-08-20 |
2023-08-13 |
Not clear |
| Adolfo M García, Sofía Abrevaya, Giselle Kozono, Indira García Cordero, Marta Córdoba, Marcelo Andrés Kauffman, Ricardo Pautassi, Edinson Muñoz, Lucas Sedeño, Agustín Ibáñe. The cerebellum and embodied semantics: evidence from a case of genetic ataxia due to STUB1 mutations. Journal of medical genetics. vol 54. issue 2. 2018-08-14. PMID:27811304. |
the cerebellum and embodied semantics: evidence from a case of genetic ataxia due to stub1 mutations. |
2018-08-14 |
2023-08-13 |
Not clear |
| Kunihiro Yoshida, Satoshi Kuwabara, Katsuya Nakamura, Ryuta Abe, Akira Matsushima, Minako Beppu, Yoshitaka Yamanaka, Yuji Takahashi, Hidenao Sasaki, Hidehiro Mizusaw. Idiopathic cerebellar ataxia (IDCA): Diagnostic criteria and clinical analyses of 63 Japanese patients. Journal of the neurological sciences. vol 384. 2018-08-13. PMID:29249373. |
cortical cerebellar atrophy (cca) and multiple system atrophy with predominant cerebellar ataxia (msa-c) are the two major forms of adult-onset sporadic ataxia. |
2018-08-13 |
2023-08-13 |
Not clear |
| Cahit Kural, Mehmet Ilker Ozer, Mehmet Can Ezgu, Royal Mehtiyev, Soner Yasar, Ahmet Murat Kutlay, Mehmet Kadri Daneyemez, Onder Onguru, Ersin Erdogan, Yusuf Izc. Intracavitary amphotericin B in the treatment of intracranial aspergillosis. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. vol 51. 2018-08-13. PMID:29506772. |
two months after treatments, mri was performed on the development of ataxia and a cerebellar abscess was detected. |
2018-08-13 |
2023-08-13 |
Not clear |
| E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbe. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 38. issue 12. 2018-08-07. PMID:28687974. |
nevertheless, recent studies on syne1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. |
2018-08-07 |
2023-08-13 |
Not clear |
| E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbe. SYNE1 related cerebellar ataxia presents with variable phenotypes in a consanguineous family from Turkey. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. vol 38. issue 12. 2018-08-07. PMID:28687974. |
to determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed snp-based linkage analysis in the family along with whole exome sequencing (wes) in two affected siblings. |
2018-08-07 |
2023-08-13 |
Not clear |
| Esther B E Becke. From Mice to Men: TRPC3 in Cerebellar Ataxia. Cerebellum (London, England). vol 16. issue 5-6. 2018-07-30. PMID:25772041. |
the dominantly inherited cerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders. |
2018-07-30 |
2023-08-13 |
mouse |
| Panagiotis Zis, Dasappaiah Ganesh Rao, Nigel Hoggard, Ptolemaios Georgios Sarrigiannis, Marios Hadjivassilio. Anti-MAG associated cerebellar ataxia and response to rituximab. Journal of neurology. vol 265. issue 1. 2018-07-27. PMID:29159464. |
we describe a series of five patients with anti-mag antibodies with evidence of cerebellar rather than just sensory ataxia and our experience of treatment with rituximab. |
2018-07-27 |
2023-08-13 |
Not clear |
| Andrew Mundwiler, Vikram G Shakkotta. Autosomal-dominant cerebellar ataxias. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325610. |
autosomal-dominant cerebellar ataxias. |
2018-07-26 |
2023-08-13 |
Not clear |
| Brent L Foge. Autosomal-recessive cerebellar ataxias. Handbook of clinical neurology. vol 147. 2018-07-26. PMID:29325611. |
autosomal-recessive cerebellar ataxias. |
2018-07-26 |
2023-08-13 |
Not clear |