| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soon. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one. vol 12. issue 11. 2017-12-26. PMID:29186133. |
mutations in itpr1 have been implicated in inherited cerebellar ataxias. |
2017-12-26 |
2023-08-13 |
Not clear |
| Cheng-Tsung Hsiao, Yo-Tsen Liu, Yi-Chu Liao, Ting-Yi Hsu, Yi-Chung Lee, Bing-Wen Soon. Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one. vol 12. issue 11. 2017-12-26. PMID:29186133. |
the aim of this study was to investigate the role of itpr1 mutations, including both large segmental deletion and single nucleotide mutations, in a han chinese cohort with inherited cerebellar ataxias in taiwan. |
2017-12-26 |
2023-08-13 |
Not clear |
| Lorena Travaglini, Marta Nardella, Emanuele Bellacchio, Adele D'Amico, Alessandro Capuano, Roberto Frusciante, Matteo Di Capua, Raffaella Cusmai, Sabina Barresi, Silvia Morlino, José M Fernández-Fernández, Marina Trivisano, Nicola Specchio, Massimiliano Valeriani, Federico Vigevano, Enrico Bertini, Ginevra Zann. Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 21. issue 3. 2017-12-21. PMID:28007337. |
mutations in the cacna1a gene, encoding the pore-forming cav2.1 (p/q-type) channel α1a subunit, localized at presynaptic terminals of brain and cerebellar neurons, result in clinically variable neurological disorders including hemiplegic migraine (hm) and episodic or progressive adult-onset ataxia (ea2, sca6). |
2017-12-21 |
2023-08-13 |
Not clear |
| Amal Al Teneiji, Komudi Siriwardena, Kristen George, Seema Mital, Saadet Mercimek-Mahmutogl. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome. Pediatric neurology. vol 62. 2017-12-18. PMID:27426421. |
progressive cerebellar atrophy and a novel homozygous pathogenic dnajc19 variant as a cause of dilated cardiomyopathy ataxia syndrome. |
2017-12-18 |
2023-08-13 |
Not clear |
| Myung Eun Oh, Pablo Hernáiz Driever, Rajiv K Khajuria, Stefan Mark Rueckriegel, Elisabeth Koustenis, Harald Bruhn, Ulrich-Wilhelm Thomal. DTI fiber tractography of cerebro-cerebellar pathways and clinical evaluation of ataxia in childhood posterior fossa tumor survivors. Journal of neuro-oncology. vol 131. issue 2. 2017-12-13. PMID:27785688. |
we examined the relationship between long-term ataxia as well as fine motor function and alteration of differential cerebellar efferent and afferent pathways using diffusion tensor imaging (dti) and tractography. |
2017-12-13 |
2023-08-13 |
Not clear |
| Myung Eun Oh, Pablo Hernáiz Driever, Rajiv K Khajuria, Stefan Mark Rueckriegel, Elisabeth Koustenis, Harald Bruhn, Ulrich-Wilhelm Thomal. DTI fiber tractography of cerebro-cerebellar pathways and clinical evaluation of ataxia in childhood posterior fossa tumor survivors. Journal of neuro-oncology. vol 131. issue 2. 2017-12-13. PMID:27785688. |
we suggest that the ctc pathway seems to play a role in extent of ataxia and fine motor dysfunction after childhood cerebellar tumor treatment. |
2017-12-13 |
2023-08-13 |
Not clear |
| Yu Miyazaki, Xiaofei Du, Shin-Ichi Muramatsu, Christopher M Gome. An miRNA-mediated therapy for SCA6 blocks IRES-driven translation of the CACNA1A second cistron. Science translational medicine. vol 8. issue 347. 2017-12-07. PMID:27412786. |
whereas sca6 allele knock-in mice show indistinguishable phenotypes from wild-type littermates, expression of sca6-associated α1act (α1actsca6) driven by a purkinje cell-specific promoter in mice produces slowly progressive ataxia and cerebellar atrophy. |
2017-12-07 |
2023-08-13 |
mouse |
| Marios Hadjivassiliou, Richard A Grünewald, David S Sanders, Priya Shanmugarajah, Nigel Hoggar. Effect of gluten-free diet on cerebellar MR spectroscopy in gluten ataxia. Neurology. vol 89. issue 7. 2017-11-28. PMID:28724585. |
effect of gluten-free diet on cerebellar mr spectroscopy in gluten ataxia. |
2017-11-28 |
2023-08-13 |
Not clear |
| Marios Hadjivassiliou, Richard A Grünewald, David S Sanders, Priya Shanmugarajah, Nigel Hoggar. Effect of gluten-free diet on cerebellar MR spectroscopy in gluten ataxia. Neurology. vol 89. issue 7. 2017-11-28. PMID:28724585. |
to evaluate the effect of gluten free diet (gfd) on magnetic resonance spectroscopy (mrs) of the cerebellum in patients with gluten ataxia (ga). |
2017-11-28 |
2023-08-13 |
Not clear |
| Yubin Wang, Joshua Hersheson, Dulce Lopez, Monia Hammer, Yan Liu, Ka-Hung Lee, Vanessa Pinto, Jeff Seinfeld, Sarah Wiethoff, Jiandong Sun, Rim Amouri, Faycal Hentati, Neema Baudry, Jennifer Tran, Andrew B Singleton, Marie Coutelier, Alexis Brice, Giovanni Stevanin, Alexandra Durr, Xiaoning Bi, Henry Houlden, Michel Baudr. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell reports. vol 16. issue 1. 2017-11-21. PMID:27320912. |
calpain-1 knockout (ko) mice also exhibit a mild form of ataxia due to abnormal cerebellar development, including enhanced neuronal apoptosis, decreased number of cerebellar granule cells, and altered synaptic transmission. |
2017-11-21 |
2023-08-13 |
mouse |
| Toni L Uhlendorf, Ruslan L Nuryyev, Alex O Kopyov, Jessica Ochoa, Shahab Younesi, Randy W Cohen, Oleg V Kopyo. Efficacy of Two Delivery Routes for Transplanting Human Neural Progenitor Cells (NPCs) Into the Spastic Han-Wistar Rat, a Model of Ataxia. Cell transplantation. vol 26. issue 2. 2017-11-21. PMID:27938495. |
in this study, we investigated the effectiveness of two different delivery routes of human-derived npc inoculation: injection into the common carotid artery or unilateral stereotactic implantation into the degenerating cerebellum and hippocampus of spastic han-wistar (shw) rats, a model of ataxia. |
2017-11-21 |
2023-08-13 |
human |
| Bruno Benedetti, Ariane Benedetti, Bernhard E Fluche. Loss of the calcium channel β4 subunit impairs parallel fibre volley and Purkinje cell firing in cerebellum of adult ataxic mice. The European journal of neuroscience. vol 43. issue 11. 2017-11-13. PMID:27003325. |
β4 is abundant in cerebellum and its loss causes ataxia. |
2017-11-13 |
2023-08-13 |
mouse |
| Catherine J Stoodley, Jason P MacMore, Nikos Makris, Janet C Sherman, Jeremy D Schmahman. Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke. NeuroImage. Clinical. vol 12. 2017-11-06. PMID:27812503. |
eighteen patients with isolated cerebellar stroke (13 males, 5 females; 20-66 years old) were evaluated using measures of ataxia and neurocognitive ability. |
2017-11-06 |
2023-08-13 |
Not clear |
| Catherine J Stoodley, Jason P MacMore, Nikos Makris, Janet C Sherman, Jeremy D Schmahman. Location of lesion determines motor vs. cognitive consequences in patients with cerebellar stroke. NeuroImage. Clinical. vol 12. 2017-11-06. PMID:27812503. |
patients with damage to cerebellar lobules iii-vi had worse ataxia scores: as predicted, the cerebellar motor syndrome resulted from lesions involving the anterior cerebellum. |
2017-11-06 |
2023-08-13 |
Not clear |
| Stacey L Main, Randy J Kulesz. Repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. Neuroscience. vol 340. 2017-11-06. PMID:27984183. |
repeated prenatal exposure to valproic acid results in cerebellar hypoplasia and ataxia. |
2017-11-06 |
2023-08-13 |
rat |
| Carmen Rodríguez-Cueto, Mariluz Hernández-Gálvez, Cecilia J Hillard, Patricia Maciel, Luis García-García, Sara Valdeolivas, Miguel A Pozo, José A Ramos, María Gómez-Ruiz, Javier Fernández-Rui. Dysregulation of the endocannabinoid signaling system in the cerebellum and brainstem in a transgenic mouse model of spinocerebellar ataxia type-3. Neuroscience. vol 339. 2017-10-30. PMID:27717809. |
our recent findings that endocannabinoid receptors and enzymes are significantly altered in the post-mortem cerebellum of patients affected by autosomal-dominant hereditary ataxias suggest that targeting the endocannabinoid signaling system may be a promising therapeutic option. |
2017-10-30 |
2023-08-13 |
mouse |
| Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A Barr, Joseph G Gleeso. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia. American journal of human genetics. vol 101. issue 3. 2017-10-27. PMID:28823706. |
in addition to reduced volume of pons and cerebellum, affected individuals had microcephaly, psychomotor delay, and ataxia. |
2017-10-27 |
2023-08-13 |
human |
| Alice Masurel-Paulet, Amélie Piton, Sophie Chancenotte, Claire Redin, Christel Thauvin-Robinet, Yvan Henrenger, Delphine Minot, Audrey Creppy, Marie Ruffier-Bourdet, Julien Thevenon, Paul Kuentz, Daphné Lehalle, Aurore Curie, Gaelle Blanchard, Ezzat Ghosn, Marlene Bonnet, Mélanie Archimbaud-Devilliers, Frédéric Huet, Odile Perret, Nicole Philip, Jean-Louis Mandel, Laurence Faivr. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. American journal of medical genetics. Part A. vol 170. issue 8. 2017-10-24. PMID:27256868. |
mutations in slc9a6 have been reported in x-linked christianson syndrome associating severe to profound intellectual deficiency and an angelman-like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. |
2017-10-24 |
2023-08-13 |
Not clear |
| Elisa Giorgio, Andrea Ciolfi, Elisa Biamino, Viviana Caputo, Eleonora Di Gregorio, Elga Fabia Belligni, Alessandro Calcia, Elena Gaidolfi, Alessandro Bruselles, Cecilia Mancini, Simona Cavalieri, Cristina Molinatto, Margherita Cirillo Silengo, Giovanni Battista Ferrero, Marco Tartaglia, Alfredo Brusc. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples. American journal of medical genetics. Part A. vol 170. issue 7. 2017-10-23. PMID:27108886. |
vldlr-associated cerebellar hypoplasia (vldlr-ch) is characterized by non-progressive congenital ataxia and moderate-to-profound intellectual disability. |
2017-10-23 |
2023-08-13 |
Not clear |
| Siddharth Srivastava, Heather E Olson, Julie S Cohen, Cynthia S Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W Yu, David T Miller, Janet S Soul, Andrea Poretti, SakkuBai Naid. BRAT1 mutations present with a spectrum of clinical severity. American journal of medical genetics. Part A. vol 170. issue 9. 2017-10-19. PMID:27282546. |
representing mild severity are three individuals (patients 1-3), who are girls (including two sisters, patients 1-2) between 4 and 10 years old, with subtle dysmorphisms, intellectual disability, ataxia or dyspraxia, and cerebellar atrophy on brain mri; additionally, patient 3 has well-controlled epilepsy and microcephaly. |
2017-10-19 |
2023-08-13 |
Not clear |