| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimot. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the Journal of integrative neuroscience. vol 19. issue 1. 2020-10-21. PMID:32259893. |
we identified the ataxia-telangiectasia mutated variant in an adult, late-onset autosomal recessive cerebellar ataxias family. |
2020-10-21 |
2023-08-13 |
Not clear |
| Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimot. Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the Journal of integrative neuroscience. vol 19. issue 1. 2020-10-21. PMID:32259893. |
we should consider ataxia-telangiectasia even in late-onset autosomal recessive cerebellar ataxias without telangiectasia or immunodeficiency. |
2020-10-21 |
2023-08-13 |
Not clear |
| Leon Tejwani, Janghoo Li. Pathogenic mechanisms underlying spinocerebellar ataxia type 1. Cellular and molecular life sciences : CMLS. vol 77. issue 20. 2020-10-13. PMID:32306062. |
the family of hereditary cerebellar ataxias is a large group of disorders with heterogenous clinical manifestations and genetic etiologies. |
2020-10-13 |
2023-08-13 |
Not clear |
| Faruk Incecik, Ozlem M Herguner, Neslihan O Munga. Clinical Features and Molecular Genetics of Autosomal Recessive Ataxia in the Turkish Population. Journal of pediatric neurosciences. vol 15. issue 2. 2020-10-13. PMID:33042236. |
autosomal recessive cerebellar ataxias (arcas) are a heterogeneous group of inherited neurodegenerative disorders. |
2020-10-13 |
2023-08-13 |
Not clear |
| Zhen Yang, S Mazdak Abulnaga, Aaron Carass, Kalyani Kansal, Bruno M Jedynak, Chiadi Onyike, Sarah H Ying, Jerry L Princ. Landmark Based Shape Analysis for Cerebellar Ataxia Classification and Cerebellar Atrophy Pattern Visualization. Proceedings of SPIE--the International Society for Optical Engineering. vol 9784. 2020-10-01. PMID:27303111. |
in this paper, we present a landmark based shape analysis pipeline to classify healthy control and different ataxia types and to visualize the characteristic cerebellar atrophy patterns associated with different types. |
2020-10-01 |
2023-08-13 |
Not clear |
| Sylvia Maaß, Johannes Levin, Günter Höglinge. Current Treatment of Multiple System Atrophy. Current treatment options in neurology. vol 18. issue 12. 2020-10-01. PMID:27787721. |
clinically, two forms of movement disorders characterize this disease, either a hypokinetic rigid parkinsonian movement disorder in msa of the parkinsonian type or ataxia in msa of the cerebellar type. |
2020-10-01 |
2023-08-13 |
Not clear |
| Hasan Burak Gündüz, Mustafa İlker Kuntay Yassa, Ali Ender Ofluoğlu, Lütfü Postalci, Erhan Eme. Cerebellar Mutism Syndrome After Posterior Fossa Surgery: A Report of Two Cases of Pilocytic Astrocytoma. Noro psikiyatri arsivi. vol 50. issue 4. 2020-10-01. PMID:28360572. |
cerebellar mutism is a type of syndrome including decreased speech, hypotonia, ataxia and emotional instability which occurs after posterior fossa surgery. |
2020-10-01 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Mario Manto, Christiane S Hamp. Immune-mediated cerebellar ataxias: from bench to bedside. Cerebellum & ataxias. vol 4. 2020-10-01. PMID:28944066. |
immune-mediated cerebellar ataxias: from bench to bedside. |
2020-10-01 |
2023-08-13 |
Not clear |
| Hiroshi Mitoma, Mario Manto, Christiane S Hamp. Immune-mediated cerebellar ataxias: from bench to bedside. Cerebellum & ataxias. vol 4. 2020-10-01. PMID:28944066. |
the category of immune-mediated cerebellar ataxias (imcas) was recently established, and includes in particular paraneoplastic cerebellar degenerations (pcds), gluten ataxia (ga) and anti-gad65 antibody (ab) associated-ca, all characterized by the presence of autoantibodies. |
2020-10-01 |
2023-08-13 |
Not clear |
| David S Ze. A neurologist and ataxia: using eye movements to learn about the cerebellum. Cerebellum & ataxias. vol 5. 2020-10-01. PMID:29445510. |
a neurologist and ataxia: using eye movements to learn about the cerebellum. |
2020-10-01 |
2023-08-13 |
Not clear |
| Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandic. Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier. Cerebellum & ataxias. vol 5. 2020-10-01. PMID:29564144. |
spinocerebellar ataxia 17 (sca17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as huntington disease (hd), dystonia and parkinsonism. |
2020-10-01 |
2023-08-13 |
Not clear |
| Ji Sun Kim, Soonwook Kwon, Chang Seok Ki, Jinyoung Youn, Jin Whan Ch. The Etiologies of Chronic Progressive Cerebellar Ataxia in a Korean Population. Journal of clinical neurology (Seoul, Korea). vol 14. issue 3. 2020-10-01. PMID:29971977. |
the etiologies and frequencies of cerebellar ataxias vary between countries. |
2020-10-01 |
2023-08-13 |
Not clear |
| Guillermo Philipps, Elizabeth D Tate, Michael R Pranzatell. Intensive Combination Immunotherapy and Neuroinflammation Resolution in a Child With Anti-PCA-1 (Yo) Paraneoplastic Syndrome and 2 Malignancies. Child neurology open. vol 5. 2020-10-01. PMID:30288393. |
despite reversible cytosine arabinoside-provoked cerebellar toxicity, the ataxia is stable on monthly intravenous immunoglobulin without relapse, now 5 years after initial diagnosis. |
2020-10-01 |
2023-08-13 |
Not clear |
| Ahmad Elkouzi, Paula Rauschkolb, Karen L Grogg, James M Gilchris. Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia. Movement disorders clinical practice. vol 3. issue 2. 2020-10-01. PMID:30363424. |
neurohistiocytosis of the cerebellum: a rare cause of ataxia. |
2020-10-01 |
2023-08-13 |
Not clear |
| Ahmad Elkouzi, Paula Rauschkolb, Karen L Grogg, James M Gilchris. Neurohistiocytosis of the Cerebellum: A Rare Cause of Ataxia. Movement disorders clinical practice. vol 3. issue 2. 2020-10-01. PMID:30363424. |
it has been postulated that bone involvement is almost universal in ecd; however, our patient with ecd had ataxia and cerebellar involvement without significant bone involvement, as evidenced by bone scan. |
2020-10-01 |
2023-08-13 |
Not clear |
| Brigitte K Paap, Sandra Roeske, Alexandra Durr, Ludger Schöls, Tetsuo Ashizawa, Sylvia Boesch, Lisa M Bunn, Martin B Delatycki, Paola Giunti, Stéphane Lehéricy, Caterina Mariotti, Jörg Melegh, Massimo Pandolfo, Chantal M E Tallaksen, Dagmar Timmann, Shoji Tsuji, Jörg Bela Schulz, Bart P van de Warrenburg, Thomas Klockgethe. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement disorders clinical practice. vol 3. issue 3. 2020-10-01. PMID:30363623. |
hereditary ataxias are a heterogeneous group of degenerative diseases of the cerebellum, brainstem, and spinal cord. |
2020-10-01 |
2023-08-13 |
Not clear |
| Brigitte K Paap, Sandra Roeske, Alexandra Durr, Ludger Schöls, Tetsuo Ashizawa, Sylvia Boesch, Lisa M Bunn, Martin B Delatycki, Paola Giunti, Stéphane Lehéricy, Caterina Mariotti, Jörg Melegh, Massimo Pandolfo, Chantal M E Tallaksen, Dagmar Timmann, Shoji Tsuji, Jörg Bela Schulz, Bart P van de Warrenburg, Thomas Klockgethe. Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies. Movement disorders clinical practice. vol 3. issue 3. 2020-10-01. PMID:30363623. |
they may present with isolated ataxia or with additional symptoms going beyond cerebellar deficits. |
2020-10-01 |
2023-08-13 |
Not clear |
| Malco Rossi, Santiago Perez-Lloret, Daniel Cerquetti, Marcelo Merell. Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review. Movement disorders clinical practice. vol 1. issue 3. 2020-10-01. PMID:30363920. |
movement disorders in autosomal dominant cerebellar ataxias: a systematic review. |
2020-10-01 |
2023-08-13 |
human |
| Malco Rossi, Santiago Perez-Lloret, Daniel Cerquetti, Marcelo Merell. Movement Disorders in Autosomal Dominant Cerebellar Ataxias: A Systematic Review. Movement disorders clinical practice. vol 1. issue 3. 2020-10-01. PMID:30363920. |
autosomal dominant cerebellar ataxias (adcas) are clinically heterogeneous disorders classified according to genetic subtype and collectively known as scas. |
2020-10-01 |
2023-08-13 |
human |
| Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scot. Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability. Case reports in genetics. vol 2018. 2020-10-01. PMID:30473892. |
the autosomal recessive cerebellar ataxias (arca) affect both the central and the peripheral nervous systems. |
2020-10-01 |
2023-08-13 |
Not clear |