| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cyril Mignot, Emmanuelle Apartis, Alexandra Durr, Charles Marques Lourenço, Perrine Charles, David Devos, Caroline Moreau, Pascale de Lonlay, Nathalie Drouot, Lydie Burglen, Nadine Kempf, Elsa Nourisson, Sandra Chantot-Bastaraud, Anne-Sophie Lebre, Marlène Rio, Yves Chaix, Eric Bieth, Emmanuel Roze, Isabelle Bonnet, Sandrine Canaple, Coralie Rastel, Alexis Brice, Agnès Rötig, Isabelle Desguerre, Christine Tranchant, Michel Koenig, Mathieu Anhei. Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression. Orphanet journal of rare diseases. vol 8. 2014-07-17. PMID:24164873. |
on one end, it may manifest as a pure ataxia with very slow progressivity and, on the other end, as a severe infantile encephalopathy with cerebellar atrophy. |
2014-07-17 |
2023-08-12 |
Not clear |
| María Celeste Buompadr. [Therapeutic developments in chronic ataxias]. Medicina. vol 73 Suppl 1. 2014-07-15. PMID:24072051. |
autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. |
2014-07-15 |
2023-08-12 |
Not clear |
| Bo Liu, Xin Che. The distinct signaling regulatory roles in the cortical atrophy and cerebellar apoptosis of newborn Nbn-deficient mice. Cellular and molecular neurobiology. vol 33. issue 8. 2014-07-08. PMID:23934213. |
strikingly, newborn nbn-deficient mice exhibit the evident microcephalic cerebellum, which contributes to severe ataxia and balance deficiency. |
2014-07-08 |
2023-08-12 |
mouse |
| Martin F Lavin, Abrey J Yeo, Olivier J Bechere. Senataxin protects the genome: Implications for neurodegeneration and other abnormalities. Rare diseases (Austin, Tex.). vol 1. 2014-07-08. PMID:25003001. |
ataxia oculomotor apraxia type 2 (aoa2) is a rare autosomal recessive disorder characterized by cerebellar atrophy, peripheral neuropathy, loss of purkinje cells and elevated α-fetoprotein. |
2014-07-08 |
2023-08-13 |
mouse |
| Robert C Stowe, Shefali Karkare, Vinay Pur. Case report of subacute cerebellar ataxia of adolescence with long-term sequelae. Journal of child neurology. vol 28. issue 12. 2014-06-30. PMID:23034974. |
due to a family history, celiac disease was suspected as the origin of the ataxia; biopsy ruled out enteropathy, and the severe, abrupt radiological changes to the patient's cerebellum are inconsistent with the reported sequelae of gluten ataxia. |
2014-06-30 |
2023-08-12 |
Not clear |
| Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedin. New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PloS one. vol 8. issue 10. 2014-06-24. PMID:24130795. |
cerebellar atrophy was constant and the earliest feature of the disease preceding brain iron accumulation, leading to the provisional diagnosis of a recessive progressive ataxia in these patients. |
2014-06-24 |
2023-08-12 |
Not clear |
| Mustafa A Salih, Emeline Mundwiller, Arif O Khan, Abdulmajeed AlDrees, Salah A Elmalik, Hamdy H Hassan, Mohammed Al-Owain, Hisham M S Alkhalidi, Istvan Katona, Mohammad M Kabiraj, Roman Chrast, Amal Y Kentab, Hamad Alzaidan, Richard J Rodenburg, Thomas M Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedin. New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PloS one. vol 8. issue 10. 2014-06-24. PMID:24130795. |
molecular testing for pla2g6 mutations is, therefore, indicated in childhood-onset ataxia syndromes, if neuroimaging shows cerebellar atrophy with or without evidence of iron accumulation. |
2014-06-24 |
2023-08-12 |
Not clear |
| Won-Seok Kim, Se Hee Jung, Min Kyun Oh, Yu Sun Min, Jong Youb Lim, Nam-Jong Pai. Effect of repetitive transcranial magnetic stimulation over the cerebellum on patients with ataxia after posterior circulation stroke: A pilot study. Journal of rehabilitation medicine. vol 46. issue 5. 2014-06-24. PMID:24658396. |
effect of repetitive transcranial magnetic stimulation over the cerebellum on patients with ataxia after posterior circulation stroke: a pilot study. |
2014-06-24 |
2023-08-12 |
Not clear |
| Paul A Pope, R Chris Mial. Restoring cognitive functions using non-invasive brain stimulation techniques in patients with cerebellar disorders. Frontiers in psychiatry. vol 5. 2014-06-24. PMID:24765079. |
this article will address these possibilities with a review of the relevant literature covering ataxias and cerebellar cognitive affective disorders, which are characterized by thalamo-cortical disturbances. |
2014-06-24 |
2023-08-13 |
human |
| Louis Dang, Xin Dang, Igor J Koralnik, Peter K Tod. JC polyomavirus granule cell neuronopathy in a patient treated with rituximab. JAMA neurology. vol 71. issue 4. 2014-06-09. PMID:24515530. |
this shift results in a clinical syndrome dominated by progressive cerebellar dysfunction that might elude standard diagnostic workup strategies for ataxia. |
2014-06-09 |
2023-08-12 |
Not clear |
| Yo-Tsen Liu, Joshua Hersheson, Vincent Plagnol, Katherine Fawcett, Kate E C Duberley, Elisavet Preza, Iain P Hargreaves, Annapurna Chalasani, Matilde Laurá, Nick W Wood, Mary M Reilly, Henry Houlde. Autosomal-recessive cerebellar ataxia caused by a novel ADCK3 mutation that elongates the protein: clinical, genetic and biochemical characterisation. Journal of neurology, neurosurgery, and psychiatry. vol 85. issue 5. 2014-06-05. PMID:24218524. |
the autosomal-recessive cerebellar ataxias (arca) are a clinically and genetically heterogeneous group of neurodegenerative disorders. |
2014-06-05 |
2023-08-12 |
Not clear |
| Diego Sepulveda-Falla, Alvaro Barrera-Ocampo, Christian Hagel, Anne Korwitz, Maria Fernanda Vinueza-Veloz, Kuikui Zhou, Martijn Schonewille, Haibo Zhou, Luis Velazquez-Perez, Roberto Rodriguez-Labrada, Andres Villegas, Isidro Ferrer, Francisco Lopera, Thomas Langer, Chris I De Zeeuw, Markus Glatze. Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis. The Journal of clinical investigation. vol 124. issue 4. 2014-06-02. PMID:24569455. |
mutations in the gene encoding presenilin-1 (ps1) are found in approximately 80% of cases of fad, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia with unclear pathophysiology. |
2014-06-02 |
2023-08-12 |
Not clear |
| Diego Sepulveda-Falla, Alvaro Barrera-Ocampo, Christian Hagel, Anne Korwitz, Maria Fernanda Vinueza-Veloz, Kuikui Zhou, Martijn Schonewille, Haibo Zhou, Luis Velazquez-Perez, Roberto Rodriguez-Labrada, Andres Villegas, Isidro Ferrer, Francisco Lopera, Thomas Langer, Chris I De Zeeuw, Markus Glatze. Familial Alzheimer's disease-associated presenilin-1 alters cerebellar activity and calcium homeostasis. The Journal of clinical investigation. vol 124. issue 4. 2014-06-02. PMID:24569455. |
in a murine model of ps1-fad, animals exhibited mild ataxia and reduced pc simple spike activity prior to cerebellar β-amyloid deposition. |
2014-06-02 |
2023-08-12 |
Not clear |
| Ella M R Fonteyn, Samyra H J Keus, Carla C P Verstappen, Bart P C van de Warrenbur. Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum (London, England). vol 12. issue 6. 2014-05-30. PMID:23733611. |
physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. |
2014-05-30 |
2023-08-12 |
human |
| Ella M R Fonteyn, Samyra H J Keus, Carla C P Verstappen, Bart P C van de Warrenbur. Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum (London, England). vol 12. issue 6. 2014-05-30. PMID:23733611. |
physiotherapy plays an important role in the management of patients with degenerative cerebellar ataxias. |
2014-05-30 |
2023-08-12 |
human |
| Ella M R Fonteyn, Samyra H J Keus, Carla C P Verstappen, Bart P C van de Warrenbur. Physiotherapy in degenerative cerebellar ataxias: utilisation, patient satisfaction, and professional expertise. Cerebellum (London, England). vol 12. issue 6. 2014-05-30. PMID:23733611. |
questionnaires were sent to members of the dutch association for patients with degenerative cerebellar ataxias (n = 532). |
2014-05-30 |
2023-08-12 |
human |
| J J Magaña, R Gómez, M Maldonado-Rodríguez, L Velázquez-Pérez, Y S Tapia-Guerrero, H Cortés, N Leyva-García, O Hernández-Hernández, B Cisnero. Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. Cerebellum (London, England). vol 12. issue 6. 2014-05-30. PMID:23828024. |
sca7 is one of the least common genetically verified autosomal dominant cerebellar ataxias found worldwide; however, we previously identified the mexican population showing high prevalence of sca7, suggesting the occurrence of a common founder effect. |
2014-05-30 |
2023-08-12 |
Not clear |
| Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hann. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain : a journal of neurology. vol 137. issue Pt 4. 2014-05-21. PMID:24578548. |
the average scale for the assessment and rating of ataxia score (sara, a standardized measure of cerebellar dysfunction on clinical examination, scores range from 0-40) was an average of 3.15 for all participants (range 0-14), but was only 2 in those with isolated episodic ataxia compared with 7.7 in those with progressive cerebellar ataxia in addition to episodic ataxia. |
2014-05-21 |
2023-08-12 |
human |
| Tracey D Graves, Yoon-Hee Cha, Angelika F Hahn, Richard Barohn, Mohammed K Salajegheh, Robert C Griggs, Brian N Bundy, Joanna C Jen, Robert W Baloh, Michael G Hann. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain : a journal of neurology. vol 137. issue Pt 4. 2014-05-21. PMID:24578548. |
unlike previous studies, we found that a significant number of individuals with genetically confirmed episodic ataxia type 1 (21%) had accumulated persistent cerebellar symptoms and signs. |
2014-05-21 |
2023-08-12 |
human |
| Massimo Pandolfo, Mario Mant. Cerebellar and afferent ataxias. Continuum (Minneapolis, Minn.). vol 19. issue 5 Movement Disorders. 2014-05-15. PMID:24092292. |
cerebellar and afferent ataxias. |
2014-05-15 |
2023-08-12 |
Not clear |