| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Juanette McKenzie, Curtis Oettel-Flaherty, Douglas Noel, Ruth H Walker, Andrew K Soberin. Pseudo-ataxia due to Osteoid Osteoma. Tremor and other hyperkinetic movements (New York, N.Y.). vol 9. 2019-04-03. PMID:30783555. |
ataxia is diagnosed by typical features on examination suggestive of a cerebellar etiology and can invoke extensive diagnostic testing. |
2019-04-03 |
2023-08-13 |
Not clear |
| Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhati. Movement disorders with neuronal antibodies: syndromic approach, genetic parallels and pathophysiology. Brain : a journal of neurology. vol 141. issue 1. 2019-03-25. PMID:29053777. |
the spectrum of such immunological and genetic analogies also includes cerebellar ataxias and some encephalopathies. |
2019-03-25 |
2023-08-13 |
Not clear |
| Gustavo A Higuera, Grazia Iaffaldano, Meiwand Bedar, Guy Shpak, Robin Broersen, Shashini T Munshi, Catherine Dupont, Joost Gribnau, Femke M S de Vrij, Steven A Kushner, Chris I De Zeeu. An expandable embryonic stem cell-derived Purkinje neuron progenitor population that exhibits in vivo maturation in the adult mouse cerebellum. Scientific reports. vol 7. issue 1. 2019-03-21. PMID:28821816. |
many forms of ataxia result from degeneration of cerebellar purkinje cells, but thus far it has not been possible to efficiently generate purkinje neuron (pn) progenitors from human or mouse pluripotent stem cells, let alone to develop a methodology for in vivo transplantation in the adult cerebellum. |
2019-03-21 |
2023-08-13 |
mouse |
| Cynthia Gagnon, Bernard Brais, Isabelle Lessard, Caroline Lavoie, Isabelle Côté, Jean Mathie. From motor performance to participation: a quantitative descriptive study in adults with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Orphanet journal of rare diseases. vol 13. issue 1. 2019-03-18. PMID:30231904. |
autosomal recessive spastic ataxia of charlevoix-saguenay (arsacs) is a recessive neurological disorder with cerebellar, pyramidal and neuropathic features. |
2019-03-18 |
2023-08-13 |
Not clear |
| Imran H Yusuf, Morag E Shanks, Penny Clouston, Robert E MacLare. A splice-site variant in FLVCR1 produces retinitis pigmentosa without posterior column ataxia. Ophthalmic genetics. vol 39. issue 2. 2019-03-11. PMID:29192808. |
here, we describe a patient with non-syndromic retinitis pigmentosa homozygous for a splice-site variant in flvcr1 (c.1092 + 5g>a) without evidence of posterior column ataxia or cerebellar degeneration. |
2019-03-11 |
2023-08-13 |
Not clear |
| b' Simona Portaro, Margherita Russo, Alessia Bramanti, Antonio Leo, Luana Billeri, Alfredo Manuli, Gianluca La Rosa, Antonino Naro, Rocco Salvatore Calabr\\xc3\\xb. The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report. Medicine. vol 98. issue 8. 2019-03-11. PMID:30813143.' |
friedrich ataxia (fa) is the most common inherited neurodegenerative cerebellar ataxic syndrome. |
2019-03-11 |
2023-08-13 |
Not clear |
| Stephanie De Munter, Dorien Bamps, Ana Rita Malheiro, Ritesh Kumar Baboota, Pedro Brites, Myriam Bae. Autonomous Purkinje cell axonal dystrophy causes ataxia in peroxisomal multifunctional protein-2 deficiency. Brain pathology (Zurich, Switzerland). vol 28. issue 5. 2019-03-05. PMID:29341299. |
we show that selective loss of mfp2 from mature cerebellar purkinje neurons causes a late-onset motor phenotype and progressive purkinje cell degeneration, thereby mimicking ataxia and cerebellar deterioration in patients with mild hsd17b4 mutations. |
2019-03-05 |
2023-08-13 |
mouse |
| Emily Bowie, Ryan Norris, Kathryn V Anderson, Sarah C Goet. Spinocerebellar ataxia type 11-associated alleles of Ttbk2 dominantly interfere with ciliogenesis and cilium stability. PLoS genetics. vol 14. issue 12. 2019-03-04. PMID:30532139. |
spinocerebellar ataxia type 11 (sca11) is a rare, dominantly inherited human ataxia characterized by atrophy of purkinje neurons in the cerebellum. |
2019-03-04 |
2023-08-13 |
human |
| Matthew A Statton, Alejandro Vazquez, Susanne M Morton, Erin V L Vasudevan, Amy J Bastia. Making Sense of Cerebellar Contributions to Perceptual and Motor Adaptation. Cerebellum (London, England). vol 17. issue 2. 2019-02-28. PMID:28840476. |
here we asked if the cerebellum is required for the recalibration of leg-speed perception that normally occurs alongside locomotor adaptation, as well as how ataxia severity is related to sensorimotor recalibration deficits in patients with cerebellar damage. |
2019-02-28 |
2023-08-13 |
human |
| Matthew A Statton, Alejandro Vazquez, Susanne M Morton, Erin V L Vasudevan, Amy J Bastia. Making Sense of Cerebellar Contributions to Perceptual and Motor Adaptation. Cerebellum (London, England). vol 17. issue 2. 2019-02-28. PMID:28840476. |
furthermore, our analysis demonstrates that ataxia severity is a crucial factor for both the sensory and motor adaptation impairments that affect patients with cerebellar damage. |
2019-02-28 |
2023-08-13 |
human |
| Michael S Salma. Epidemiology of Cerebellar Diseases and Therapeutic Approaches. Cerebellum (London, England). vol 17. issue 1. 2019-02-28. PMID:28940047. |
few drugs, specific motor rehabilitation programs, and noninvasive cerebellar stimulation for the treatment of ataxia have been developed and seem to show early promise, but more studies are needed to replicate and fine-tune their benefits further. |
2019-02-28 |
2023-08-13 |
Not clear |
| Mariko Nishibe, Yu Katsuyama, Toshihide Yamashit. Developmental abnormality contributes to cortex-dependent motor impairments and higher intracortical current requirement in the reeler homozygous mutants. Brain structure & function. vol 223. issue 6. 2019-02-28. PMID:29536172. |
to elucidate the influence of cerebellum atrophy and ataxia on the obtained results, the behavioral and neurophysiological findings in reeler mice were reproduced using the disabled-1 (dab1) cko mice, in which the reelin-dab1 signal deficiency is confined to the cerebral cortex. |
2019-02-28 |
2023-08-13 |
mouse |
| Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, Slaven Erce. hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 23. issue 5. 2019-02-25. PMID:28281409. |
hipsc disease modeling of rare hereditary cerebellar ataxias: opportunities and future challenges. |
2019-02-25 |
2023-08-13 |
human |
| Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, Slaven Erce. hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 23. issue 5. 2019-02-25. PMID:28281409. |
cerebellar ataxias are clinically and genetically heterogeneous diseases affecting primary cerebellar cells. |
2019-02-25 |
2023-08-13 |
human |
| Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, Slaven Erce. hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 23. issue 5. 2019-02-25. PMID:28281409. |
the lack of availability of affected tissue from cerebellar ataxias patients is the main obstacle in investigating the pathogenicity of these diseases. |
2019-02-25 |
2023-08-13 |
human |
| Dunja Lukovic, Victoria Moreno-Manzano, Francisco Javier Rodriguez-Jimenez, Angel Vilches, Eva Sykova, Pavla Jendelova, Miodrag Stojkovic, Slaven Erce. hiPSC Disease Modeling of Rare Hereditary Cerebellar Ataxias: Opportunities and Future Challenges. The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry. vol 23. issue 5. 2019-02-25. PMID:28281409. |
in this review, we will summarize the current studies in which hipsc were utilized to study cerebellar ataxias. |
2019-02-25 |
2023-08-13 |
human |
| Livia Parodi, Giulia Coarelli, Giovanni Stevanin, Alexis Brice, Alexandra Dur. Hereditary ataxias and paraparesias: clinical and genetic update. Current opinion in neurology. vol 31. issue 4. 2019-02-21. PMID:29847346. |
this review aims at updating the clinical and genetic aspects of hereditary spastic paraplegias (hsps) and hereditary cerebellar ataxias (hcas), focusing on the concept of spastic-ataxia phenotypic spectrum and on newly identified clinical overlaps with other neurological and nonneurological diseases. |
2019-02-21 |
2023-08-13 |
Not clear |
| David D Bushart, Vikram G Shakkotta. Ion channel dysfunction in cerebellar ataxia. Neuroscience letters. vol 688. 2019-02-18. PMID:29421541. |
cerebellar ataxias constitute a heterogeneous group of disorders that result in impaired speech, uncoordinated limb movements, and impaired balance, often ultimately resulting in wheelchair confinement. |
2019-02-18 |
2023-08-13 |
Not clear |
| David D Bushart, Vikram G Shakkotta. Ion channel dysfunction in cerebellar ataxia. Neuroscience letters. vol 688. 2019-02-18. PMID:29421541. |
motor dysfunction in ataxia can be attributed to dysfunction and degeneration of neurons in the cerebellum and its associated pathways. |
2019-02-18 |
2023-08-13 |
Not clear |
| Kyoko Maruta, Mitsuhiro Aoki, Yoshito Sonod. [Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS): a case report]. Rinsho shinkeigaku = Clinical neurology. vol 59. issue 1. 2019-02-15. PMID:30606994. |
cerebellar ataxia with neuropathy and vestibular areflexia syndrome (canvas) is a rare form of multisystem ataxia defined by a triad of cerebellar impairment, bilateral vestibular hypofunction, and somatosensory deficit. |
2019-02-15 |
2023-08-13 |
Not clear |