| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Ginevrino, Autumn Sa'na Leggins, Susanne Roosing, Romina Alfonsi, Jessica Rosati, Rachel Schot, Grazia Maria Simonetta Mancini, Enrico Bertini, William B Dobyns, Tommaso Mazza, Joseph G Gleeson, Enza Maria Valent. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. American journal of human genetics. vol 101. issue 4. 2017-10-16. PMID:28965847. |
the children presented congenital ataxia and cerebellar vermis hypoplasia with elongated superior cerebellar peduncles (mild "molar tooth sign"), typical cranio-facial dysmorphisms (hypertelorism, depressed nasal bridge, frontal bossing), and postaxial polydactyly. |
2017-10-16 |
2023-08-13 |
mouse |
| Tjitske F Lawerman, Rick Brandsma, Huibert Burger, Johannes G M Burgerhof, Deborah A Siva. Age-related reference values for the pediatric Scale for Assessment and Rating of Ataxia: a multicentre study. Developmental medicine and child neurology. vol 59. issue 10. 2017-09-29. PMID:28815574. |
for reliable assessment of ataxia severity in children, the childhood ataxia and cerebellar group of the european pediatric neurology society aimed to validate the scale for assessment and rating of ataxia (sara) according to age. |
2017-09-29 |
2023-08-13 |
Not clear |
| Alessandro Picelli, Paola Zuccher, Giampaolo Tomelleri, Paolo Bovi, Giuseppe Moretto, Andreas Waldner, Leopold Saltuari, Nicola Smani. Prognostic Importance of Lesion Location on Functional Outcome in Patients with Cerebellar Ischemic Stroke: a Prospective Pilot Study. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26758032. |
we examined 14 patients with first-ever unilateral cerebellar ischemic stroke within 7 days and at 90 days from the onset of stroke by means of the international cooperative ataxia rating scale. |
2017-09-26 |
2023-08-13 |
human |
| Alessandro Picelli, Paola Zuccher, Giampaolo Tomelleri, Paolo Bovi, Giuseppe Moretto, Andreas Waldner, Leopold Saltuari, Nicola Smani. Prognostic Importance of Lesion Location on Functional Outcome in Patients with Cerebellar Ischemic Stroke: a Prospective Pilot Study. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26758032. |
our results documented that injuries to the v, vi, viia crus i, viia crus ii, viib, viiia, and viiib lobules and the middle cerebellar peduncle are significantly associated with the international cooperative ataxia rating scale (icars) score at 1 week after the onset of stroke. |
2017-09-26 |
2023-08-13 |
human |
| Giorgia Chini, Alberto Ranavolo, Francesco Draicchio, Carlo Casali, Carmela Conte, Giovanni Martino, Luca Leonardi, Luca Padua, Gianluca Coppola, Francesco Pierelli, Mariano Serra. Local Stability of the Trunk in Patients with Degenerative Cerebellar Ataxia During Walking. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26811155. |
furthermore, the maximum lyapunov exponent was negatively correlated with icars balance, icars posture, and icars total scores.these findings indicate that trunk local stability during gait is lower in patients with cerebellar degenerative ataxia than that in healthy controls and that this may increase the risk of falls. |
2017-09-26 |
2023-08-13 |
Not clear |
| Laura Ludovica Gramegna, Caterina Tonon, David Neil Manners, Antonella Pini, Rita Rinaldi, Stefano Zanigni, Claudio Bianchini, Stefania Evangelisti, Filippo Fortuna, Valerio Carelli, Claudia Testa, Raffaele Lod. Combined Cerebellar Proton MR Spectroscopy and DWI Study of Patients with Friedreich's Ataxia. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26897753. |
combined cerebellar proton mr spectroscopy and dwi study of patients with friedreich's ataxia. |
2017-09-26 |
2023-08-13 |
Not clear |
| Sarah Wiethoff, Conceição Bettencourt, Reema Paudel, Prochi Madon, Yo-Tsen Liu, Joshua Hersheson, Noshir Wadia, Joy Desai, Henry Houlde. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:26995604. |
autosomal-recessive cerebellar ataxias (arca) are clinically and genetically heterogeneous conditions primarily affecting the cerebellum. |
2017-09-26 |
2023-08-13 |
Not clear |
| C Tzoulis, Paweł Sztromwasser, Stefan Johansson, Ivar Otto Gjerde, Per Knappskog, L A Bindof. PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum (London, England). vol 16. issue 1. 2017-09-26. PMID:27165045. |
this patient had the typical findings with cognitive dysfunction, peripheral neuropathy, cerebellar dysarthria, horizontal nystagmus, oculomotor apraxia, and severe truncal and appendicular ataxia. |
2017-09-26 |
2023-08-13 |
Not clear |
| Nicolas Nicastro, Emmanuelle Ranza, Stylianos E Antonarakis, Judit Horvat. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation. Cerebellum (London, England). vol 15. issue 6. 2017-09-25. PMID:26607151. |
progressive ataxia with palatal tremor (papt) is a syndrome caused by cerebellar and brainstem lesions involving the dentato-rubro-olivary tract and associated with hypertrophic olivary degeneration. |
2017-09-25 |
2023-08-13 |
Not clear |
| M Burhan Janjua, Iryna Ivasyk, Jeffrey P Greenfiel. Vertebrobasilar Insufficiency Due to Distal Posterior Inferior Cerebellar Artery Compression in Chiari 1.5. World neurosurgery. vol 104. 2017-09-25. PMID:28583457. |
chiari malformation is characterized by radiographic evidence of herniation of cerebellar tonsils below the foramen magnum and a symptom complex of headaches; breathing, swallowing, or sleep difficulties; ataxia; restless; and motor and/or sensory deficits. |
2017-09-25 |
2023-08-13 |
Not clear |
| Linwei Zhang, Karen N McFarland, S H Subramony, Kenneth M Heilman, Tetsuo Ashizaw. SPG7 and Impaired Emotional Communication. Cerebellum (London, England). vol 16. issue 2. 2017-09-22. PMID:27557734. |
the goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. |
2017-09-22 |
2023-08-13 |
Not clear |
| E Y Scott, M C T Penedo, J D Murray, C J Finn. Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy. Cerebellum (London, England). vol 16. issue 2. 2017-09-22. PMID:27709457. |
equine cerebellar abiotrophy (ca) is a hereditary neurodegenerative disease that affects the purkinje neurons of the cerebellum and causes ataxia in arabian foals. |
2017-09-22 |
2023-08-13 |
Not clear |
| Alberto Benussi, Valentina Dell'Era, Maria Sofia Cotelli, Marinella Turla, Carlo Casali, Alessandro Padovani, Barbara Borron. Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia. Brain stimulation. vol 10. issue 2. 2017-09-20. PMID:27838276. |
long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia. |
2017-09-20 |
2023-08-13 |
Not clear |
| Alberto Benussi, Valentina Dell'Era, Maria Sofia Cotelli, Marinella Turla, Carlo Casali, Alessandro Padovani, Barbara Borron. Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia. Brain stimulation. vol 10. issue 2. 2017-09-20. PMID:27838276. |
neurodegenerative cerebellar ataxias represent a group of disabling disorders for which we currently lack effective therapies. |
2017-09-20 |
2023-08-13 |
Not clear |
| Alberto Benussi, Valentina Dell'Era, Maria Sofia Cotelli, Marinella Turla, Carlo Casali, Alessandro Padovani, Barbara Borron. Long term clinical and neurophysiological effects of cerebellar transcranial direct current stimulation in patients with neurodegenerative ataxia. Brain stimulation. vol 10. issue 2. 2017-09-20. PMID:27838276. |
cerebellar transcranial direct current stimulation (tdcs) is a non-invasive technique, which has been demonstrated to modulate cerebellar excitability and improve symptoms in patients with cerebellar ataxias. |
2017-09-20 |
2023-08-13 |
Not clear |
| Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soon. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PloS one. vol 12. issue 5. 2017-09-15. PMID:28481932. |
the present study aims at investigating the role of ataxic variant of ald (avald) in patients with adult-onset cerebellar ataxia, as well as characterizing their clinical features that distinguish avald from other cerebellar ataxias. |
2017-09-15 |
2023-08-13 |
Not clear |
| Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soon. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PloS one. vol 12. issue 5. 2017-09-15. PMID:28481932. |
wmh in the corticospinal tracts and wmh in the cerebellar hemispheres were strongly associated with avald rather than other ataxias. |
2017-09-15 |
2023-08-13 |
Not clear |
| Ying-Hao Chen, Yi-Chung Lee, Yu-Shuen Tsai, Yuh-Cherng Guo, Cheng-Tsung Hsiao, Pei-Chien Tsai, Jin-An Huang, Yi-Chu Liao, Bing-Wen Soon. Unmasking adrenoleukodystrophy in a cohort of cerebellar ataxia. PloS one. vol 12. issue 5. 2017-09-15. PMID:28481932. |
to conclude, ald accounts for approximately 0.39% (2/516) of adult-onset cerebellar ataxias. |
2017-09-15 |
2023-08-13 |
Not clear |
| Helena M Gellersen, Christine C Guo, Claire O'Callaghan, Rachel H Tan, Saber Sami, Michael Hornberge. Cerebellar atrophy in neurodegeneration-a meta-analysis. Journal of neurology, neurosurgery, and psychiatry. vol 88. issue 9. 2017-09-11. PMID:28501823. |
the cerebellum has strong cortical and subcortical connectivity, but is rarely taken into account for clinical diagnosis in many neurodegenerative conditions, particularly in the absence of clinical ataxia. |
2017-09-11 |
2023-08-13 |
Not clear |
| Zafar Iqbal, Siri L Rydning, Iselin M Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H Rengmark, Sandra P Henriksen, Chantal M E Tallaksen, Mathias Tof. Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PloS one. vol 12. issue 3. 2017-08-30. PMID:28362824. |
two homozygous missense variants, p.(gly4230ser) and p.(leu4221val) were found in sacs in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. |
2017-08-30 |
2023-08-13 |
Not clear |