| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Andrea Di Cristofori, Laura Fusi, Antonella Gomitoni, Giampiero Grampa, Anna Bersan. R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update. The journal of headache and pain. vol 13. issue 5. 2012-11-07. PMID:22527033. |
although p.arg583gln mutations are associated with a heterogeneous phenotype, carriers present cerebellar signs which consisted generally in ataxia and dysmetria, with intention tremor appearing mostly in advanced age, often progressive and permanent. |
2012-11-07 |
2023-08-12 |
Not clear |
| Kay Seidel, Sonny Siswanto, Ewout R P Brunt, Wilfred den Dunnen, Horst-Werner Korf, Udo Rü. Brain pathology of spinocerebellar ataxias. Acta neuropathologica. vol 124. issue 1. 2012-10-30. PMID:22684686. |
the autosomal dominant cerebellar ataxias (adcas) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. |
2012-10-30 |
2023-08-12 |
Not clear |
| Mark I Boulos, Ashkan Shoamanesh, Richard I Aviv, David J Gladstone, Richard H Swart. Severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on MRI. The neurologist. vol 18. issue 4. 2012-10-29. PMID:22735253. |
severe hypomagnesemia associated with reversible subacute ataxia and cerebellar hyperintensities on mri. |
2012-10-29 |
2023-08-12 |
Not clear |
| R Sivera, N Martín, I Boscá, T Sevilla, N Muelas, I Azorín, J J Vílchez, M Bolonio, E Donat, C Ribes-Koninckx, L Batalle. Autoimmunity as a prognostic factor in sporadic adult onset cerebellar ataxia. Journal of neurology. vol 259. issue 5. 2012-10-17. PMID:21984193. |
cerebellar adult onset ataxia is a heterogeneous condition. |
2012-10-17 |
2023-08-12 |
Not clear |
| Teodora Chamova, Laura Florez, Velina Guergueltcheva, Margarita Raycheva, Radka Kaneva, Hanns Lochmüller, Luba Kalaydjieva, Ivailo Tourne. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. Journal of neurology. vol 259. issue 5. 2012-10-17. PMID:22008874. |
in am j hum genet 87:813-819, 2010) implicated for the first time the ano10 gene in the genetic basis of autosomal recessive cerebellar ataxias. |
2012-10-17 |
2023-08-12 |
Not clear |
| José A Angemi, Juan C Zuccott. [Joubert syndrome: report of four adult siblings affected]. Revista de neurologia. vol 54. issue 10. 2012-10-10. PMID:22573508. |
they reported four cases with partial or total agenesis of the cerebellar vermis, apnea-hyperpnea neonatal episodic, abnormal eye movements, ataxia and mental retardation. |
2012-10-10 |
2023-08-12 |
Not clear |
| Zhao Chen, Xiaohui Li, Beisha Tang, Junling Wang, Yuting Shi, Zhanfang Sun, Li Zhang, Qian Pan, Kun Xia, Hong Jian. Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population. Neuroscience letters. vol 520. issue 1. 2012-10-04. PMID:22579694. |
autosomal dominant cerebellar ataxias (adcas), genetically classified into spinocerebellar ataxias (scas), are a highly heterogeneous group of neurodegenerative disorders. |
2012-10-04 |
2023-08-12 |
Not clear |
| A Awada, S Al Rajeh, O Bademosi, H Ismai. Pattern of degenerative ataxias in the eastern province of Saudi Arabia. Annals of Saudi medicine. vol 13. issue 2. 2012-10-02. PMID:17588019. |
there were six late onset ataxias: "pure cerebellar" ataxias were the most common. |
2012-10-02 |
2023-08-12 |
Not clear |
| S Furtado, S Das, O Suchowersk. A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects. Parkinsonism & related disorders. vol 4. issue 4. 2012-10-02. PMID:18591106. |
autosomal dominant cerebellar ataxias (adcas) include spinocerebellar ataxias (scas) and dentatorubral-pallidoluysian atrophy (drpla); six of these have been found to be trinucleotide repeat disorders. |
2012-10-02 |
2023-08-12 |
Not clear |
| Mohammed M Ja. Evaluating the child with unsteady gait. Neurosciences (Riyadh, Saudi Arabia). vol 14. issue 1. 2012-10-02. PMID:21048565. |
ataxia can be cerebellar or sensory. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Heder. Hereditary myelopathies. Continuum (Minneapolis, Minn.). vol 17. issue 4. 2012-10-02. PMID:22810932. |
hereditary myelopathies comprise a diverse group of disorders whose signs and symptoms include progressive spasticity, limb ataxia without additional cerebellar signs, impaired vibration and positional sensation, and a variable degree of neurogenic weakness, all suggesting spinal cord impairment. |
2012-10-02 |
2023-08-12 |
Not clear |
| Peter Klivényi, Dezso Nemeth, Tamas Sefcsik, Karolina Janacsek, Ildiko Hoffmann, Gabor Peter Haden, Zsuzsa Londe, Laszlo Vecse. Cognitive functions in ataxia with oculomotor apraxia type 2. Frontiers in neurology. vol 3. 2012-10-02. PMID:23015802. |
ataxia with oculomotor apraxia type 2 (aoa2) is characterized by cerebellar atrophy, peripheral neuropathy, oculomotor apraxia, and elevated serum alpha-fetoprotein (afp) levels. |
2012-10-02 |
2023-08-12 |
Not clear |
| Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D'Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertin. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 16. issue 3. 2012-09-28. PMID:21873089. |
the use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. |
2012-09-28 |
2023-08-12 |
Not clear |
| Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D'Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertin. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 16. issue 3. 2012-09-28. PMID:21873089. |
we performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. |
2012-09-28 |
2023-08-12 |
Not clear |
| Alessandra Terracciano, Florence Renaldo, Ginevra Zanni, Adele D'Amico, Anna Pastore, Sabina Barresi, Enza Maria Valente, Fiorella Piemonte, Giulia Tozzi, Rosalba Carrozzo, Massimiliano Valeriani, Renata Boldrini, Eugenio Mercuri, Filippo Maria Santorelli, Enrico Bertin. The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 16. issue 3. 2012-09-28. PMID:21873089. |
we think that muscle biopsy is a valuable procedure to improve diagnostic assesement in children with congenital ataxia or other undefined forms of later onset childhood ataxia associated to cerebellar atrophy at mri. |
2012-09-28 |
2023-08-12 |
Not clear |
| Kaisa Kyöstilä, Sigitas Cizinauskas, Eija H Seppälä, Esko Suhonen, Janis Jeserevics, Antti Sukura, Pernilla Syrjä, Hannes Loh. A SEL1L mutation links a canine progressive early-onset cerebellar ataxia to the endoplasmic reticulum-associated protein degradation (ERAD) machinery. PLoS genetics. vol 8. issue 6. 2012-09-26. PMID:22719266. |
inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. |
2012-09-26 |
2023-08-12 |
Not clear |
| Giuliana Grimaldi, Mario Mant. Topography of cerebellar deficits in humans. Cerebellum (London, England). vol 11. issue 2. 2012-09-19. PMID:21240580. |
the cerebellar syndrome includes combinations of oculomotor disturbances, dysarthria and other speech deficits, ataxia of limbs, ataxia of stance and gait, as well as often more subtle cognitive/behavioral impairments. |
2012-09-19 |
2023-08-12 |
human |
| Pedro Braga-Neto, José Luiz Pedroso, Helena Alessi, Lívia Almeida Dutra, André Carvalho Felício, Thaís Minett, Patrícia Weisman, Ruth F Santos-Galduroz, Paulo Henrique F Bertolucci, Alberto Alain Gabbai, Orlando Graziani Povoas Barsottin. Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features. Cerebellum (London, England). vol 11. issue 2. 2012-09-19. PMID:21975858. |
the severity of cerebellar symptoms was measured using the international cooperative ataxia rating scale and the scale for the assessment and rating of ataxia. |
2012-09-19 |
2023-08-12 |
human |
| Stefan Jun Groiss, Yoshikazu Ugaw. Cerebellar stimulation in ataxia. Cerebellum (London, England). vol 11. issue 2. 2012-09-19. PMID:22116658. |
cerebellar stimulation in ataxia. |
2012-09-19 |
2023-08-12 |
Not clear |
| Hyoung Seop Kim, Chul Oh Jung, Ha Ra Jeon, Lee Ho Sun. Rehabilitation for ataxia following chemotherapy for burkitt lymphoma involving the rectum. Annals of rehabilitation medicine. vol 36. issue 4. 2012-09-17. PMID:22977788. |
cytarabine, which is used for central nervous system prophylaxis during chemotherapy for burkitt lymphoma, has known neurotoxicity, and its side effects include motor ataxia due to cerebellar injury, ataxic dysarthria, dysfunction of ocular movement, confusion, somnolence and lethargy. |
2012-09-17 |
2023-08-12 |
Not clear |