| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N Spelbrink, Tuula Lönnqvist, Leena Peltone. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Human molecular genetics. vol 14. issue 20. 2006-01-12. PMID:16135556. |
infantile onset spinocerebellar ataxia (iosca) (mim 271245) is a severe autosomal recessively inherited neurodegenerative disorder characterized by progressive atrophy of the cerebellum, brain stem and spinal cord and sensory axonal neuropathy. |
2006-01-12 |
2023-08-12 |
Not clear |
| Ullrich Wüllner, Michael Reimold, Michael Abele, Katrin Bürk, Martina Minnerop, Bernd-Michael Dohmen, Hans-Juergen Machulla, Roland Bares, Thomas Klockgethe. Dopamine transporter positron emission tomography in spinocerebellar ataxias type 1, 2, 3, and 6. Archives of neurology. vol 62. issue 8. 2005-09-08. PMID:16087769. |
the spinocerebellar ataxias (scas) are a genetically heterogeneous group of autosomal dominant ataxias: some mutations, including sca1, sca2, and sca3, are multisystemic disorders characterized by a variety of noncerebellar symptoms while others, like sca6, give rise to a pure cerebellar syndrome. |
2005-09-08 |
2023-08-12 |
Not clear |
| Victor Hugo Cervantes-Kardasch, Esperanza García-Martíne. [Molecular physiopathology of the spinocerebellar ataxia type 6 (SCA6)]. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion. vol 56. issue 3. 2005-03-29. PMID:15612520. |
spinocerebellar ataxia type 6 (sca6) is a neurodegenerative, monogenic, and autosomic dominant disease which is characterized by a global cerebellar atrophy. |
2005-03-29 |
2023-08-12 |
Not clear |
| Jun-ichi Satoh, Takashi Yamamur. Gene expression profile following stable expression of the cellular prion protein. Cellular and molecular neurobiology. vol 24. issue 6. 2005-02-17. PMID:15672681. |
northern blot analysis verified marked upregulation in p1 of the brain-specific protein phosphatase 2a beta subunit (ppp2r2b), a causative gene of spinocerebellar ataxia 12, and the cerebellar degeneration-related autoantigen (cdr34) gene associated with development of paraneoplastic cerebellar degeneration. |
2005-02-17 |
2023-08-12 |
mouse |
| Pia März, Alphonse Probst, Sigrid Lang, Martine Schwager, Stefan Rose-John, Uwe Otten, Suat Ozbe. Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. The Journal of biological chemistry. vol 279. issue 34. 2005-02-15. PMID:15201271. |
ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. |
2005-02-15 |
2023-08-12 |
mouse |
| Sarah Furtado, Haydeh Payami, Paul J Lockhart, Melissa Hanson, John G Nutt, Andrew A Singleton, Amanda Singleton, Jamel Bower, Ryan J Utti, Thomas D Bird, Raul de la Fuente-Fernandez, Yoshio Tsuboi, Mary L Klimek, Oksana Suchowersky, John Hardy, Donald B Calne, Zbigniew K Wszolek, Matthew Farrer, Katrina Gwinn-Hardy, A Jon Stoess. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Movement disorders : official journal of the Movement Disorder Society. vol 19. issue 6. 2004-10-28. PMID:15197699. |
spinocerebellar ataxia type 2 (sca2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. |
2004-10-28 |
2023-08-12 |
Not clear |
| O Y Bang, P H Lee, S Y Kim, H J Kim, K Hu. Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. Journal of neurology, neurosurgery, and psychiatry. vol 75. issue 10. 2004-10-19. PMID:15377695. |
pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: mri-based volumetric analysis. |
2004-10-19 |
2023-08-12 |
Not clear |
| L Guerrini, F Lolli, A Ginestroni, G Belli, R Della Nave, C Tessa, S Foresti, M Cosottini, S Piacentini, F Salvi, R Plasmati, D De Grandis, G Siciliano, A Filla, M Mascalch. Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain : a journal of neurology. vol 127. issue Pt 8. 2004-10-15. PMID:15240431. |
magnetic resonance (mr) techniques enable in vivo measurement of the atrophy of the brainstem and cerebellum in spinocerebellar ataxia type 1 (sca1) and 2 (sca2) patients, which is accompanied by a decrease in the concentration of n-acetyl aspartate (naa) or of the naa/creatine ratio in the pons and cerebellum. |
2004-10-15 |
2023-08-12 |
human |
| Th Postert, J Eyding, D Berg, H Przuntek, G Becker, M Finger, L Schöl. Transcranial sonography in spinocerebellar ataxia type 3. Journal of neural transmission. Supplementum. issue 68. 2004-10-05. PMID:15354398. |
aim of the present study was to evaluate the diagnostic potential of tcs in spinocerebellar ataxia type 3 (sca3), a neurodegenerative disease affecting the cerebellum, multiple pontine nuclei, substantia nigra, pallidum, putamen, caudate nucleus and long spinal tracts. |
2004-10-05 |
2023-08-12 |
Not clear |
| R Nandagopal, S G K Moorth. Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3. Postgraduate medical journal. vol 80. issue 944. 2004-09-23. PMID:15192175. |
a genetically confirmed case of spinocerebellar ataxia type 3 (sca 3), presenting with disabling foot dystonia, peripheral neuropathy, and minimal cerebellar signs is reported. |
2004-09-23 |
2023-08-12 |
Not clear |
| O Rolón Lacarriere, A Rasmussen Almaraz, H Hernández Cruz, J Carranza del Río, M González Cruz, J Gutiérrez Moctezum. [Spinocerebellar ataxia type 7: clinical and molecular genetic analysis of a Mexican family]. Revista de neurologia. vol 38. issue 8. 2004-07-23. PMID:15122543. |
spinocerebellar ataxias (sca) constitute a group of neurodegenerative diseases characterized by cerebellar disfunction alone or associated with other neurological anomalies. |
2004-07-23 |
2023-08-12 |
Not clear |
| Hélio A Ghizoni Teive, Walter Oleschko Arrud. [The Drew family of Walworth: one century from the first evaluation until the final diagnosis, Machado-Joseph disease]. Arquivos de neuro-psiquiatria. vol 62. issue 1. 2004-07-15. PMID:15122458. |
autosomal dominant spinocerebellar ataxia (sca) is an heterogeneous group of neurodegenerative diseases involving cerebellum and its connections. |
2004-07-15 |
2023-08-12 |
Not clear |
| Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, Caterina Mariotti, Nicola Migone, Stefano Di Donato, Franco Taron. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology. vol 61. issue 5. 2004-06-17. PMID:15148151. |
autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive neurodegenerative diseases, at present associated with 22 loci (spinocerebellar ataxia [sca] 1-sca8, sca10-sca19, sca21, sca22, fibroblast growth factor 14 [fgf14]-sca, and dentatorubral-pallidoluysian atrophy [drpla]). |
2004-06-17 |
2023-08-12 |
Not clear |
| Ludger Schöls, Peter Bauer, Thorsten Schmidt, Thorsten Schulte, Olaf Ries. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. The Lancet. Neurology. vol 3. issue 5. 2004-06-02. PMID:15099544. |
autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (sca) in genetic nomenclature. |
2004-06-02 |
2023-08-12 |
Not clear |
| A Michalik, J-J Martin, C Van Broeckhove. Spinocerebellar ataxia type 7 associated with pigmentary retinal dystrophy. European journal of human genetics : EJHG. vol 12. issue 1. 2004-05-06. PMID:14571264. |
spinocerebellar ataxia type 7 (sca7) is an autosomal-dominant, late-onset, slowly progressive disorder, primarily characterized by gradual loss of motor coordination, resulting from dysfunction and degeneration of the cerebellum and its connecting pathways. |
2004-05-06 |
2023-08-12 |
Not clear |
| Matthias Maschke, Christopher M Gomez, Timothy J Ebner, Jürgen Koncza. Hereditary cerebellar ataxia progressively impairs force adaptation during goal-directed arm movements. Journal of neurophysiology. vol 91. issue 1. 2004-03-01. PMID:13679403. |
we investigated how humans with hereditary cerebellar degeneration [spinocerebellar ataxia (sca) type 6 and 8, n = 9] and age- and sex-matched healthy controls (n = 9) adapted goal-directed arm movements to an unknown external force field. |
2004-03-01 |
2023-08-12 |
human |
| Americo A Migliaccio, G Michael Halmagyi, Leigh A McGarvie, Phillip D Creme. Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign. Brain : a journal of neurology. vol 127. issue Pt 2. 2004-02-24. PMID:14607788. |
none has a family history of cerebellar or vestibular disease; spinocerebellar ataxia (sca) 1, 2, 3, 6, 7 and friedreich's ataxia were excluded by genetic testing. |
2004-02-24 |
2023-08-12 |
human |
| C Globas, S Bösch, Ch Zühlke, I Daum, J Dichgans, K Bür. The cerebellum and cognition. Intellectual function in spinocerebellar ataxia type 6 (SCA6). Journal of neurology. vol 250. issue 12. 2004-02-24. PMID:14673583. |
the aim of this study was to assess cognitive function in patients with spinocerebellar ataxia type 6 (sca6), an autosomal-dominantly inherited disease leading to a progressive cerebellar syndrome. |
2004-02-24 |
2023-08-12 |
human |
| E K Ta. Autosomal dominant spinocerebellar ataxias: an Asian perspective. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. vol 30. issue 4. 2004-01-28. PMID:14672269. |
autosomal dominant cerebellar ataxias, frequently referred to as spinocerebellar ataxias (scas) have been under intense scientific research limelight since expansions of coded cag trinucleotide repeats were demonstrated to cause several dominantly inherited scas. |
2004-01-28 |
2023-08-12 |
Not clear |
| Matthias Maschke, Christopher M Gomez, Paul J Tuite, Jürgen Koncza. Dysfunction of the basal ganglia, but not the cerebellum, impairs kinaesthesia. Brain : a journal of neurology. vol 126. issue Pt 10. 2003-11-06. PMID:12821507. |
using a passive movement task, we examined the elbow position sense in patients with a dysfunction of the basal ganglia (parkinson's disease, n = 9), patients with cerebellar degeneration [spinocerebellar ataxia (sca) types 6 and 8, n = 6] and age-matched healthy control subjects (n = 11). |
2003-11-06 |
2023-08-12 |
human |