| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O'Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinó. Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias. International journal of molecular sciences. vol 23. issue 19. 2022-10-14. PMID:36233161. |
our clinical series comprises 124 patients with movement disorders (mds) and/or ataxia with cerebellar atrophy (ca), many of them showing signs of neurodegeneration with brain iron accumulation (nbia). |
2022-10-14 |
2023-08-14 |
Not clear |
| Yi Jin, Yuchao Chen, Dan Li, Mengqiu Qiu, Menglu Zhou, Zhouyao Hu, Qiusi Cai, Xulin Weng, Xiaodong Lu, Bin W. Autonomic dysfunction as the initial presentation in spinocerebellar ataxia type 3: A case report and review of the literature. Frontiers in neurology. vol 13. 2022-10-14. PMID:36237609. |
combination of early and autonomic abnormalities and ataxia would be more characteristic of the cerebellar type of multiple system atrophy (msa-c), the patient's positive family history and identification of an |
2022-10-14 |
2023-08-14 |
Not clear |
| Sylvie Picker-Minh, Ilaria Luperi, Ethiraj Ravindran, Nadine Kraemer, Sami Zaqout, Gisela Stoltenburg-Didinger, Olaf Ninnemann, Luis R Hernandez-Miranda, Shyamala Mani, Angela M Kaind. PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients. Cerebellum (London, England). 2022-10-11. PMID:36219306. |
ptrh2 is necessary for purkinje cell differentiation and survival and its loss recapitulates progressive cerebellar atrophy and ataxia seen in imnepd patients. |
2022-10-11 |
2023-08-14 |
Not clear |
| Leslie J Roberts, Michael McVeigh, Linda Seiderer, Ian H Harding, Louise A Corben, Martin Delatycki, David J Szmulewic. Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy. Neurology. Genetics. vol 8. issue 5. 2022-10-03. PMID:36187726. |
based on the evolving available literature and experience, we outline a clinical approach to the diagnosis of adult-onset ataxia where a combination of cerebellar and peripheral or cranial nerve pathology exists. |
2022-10-03 |
2023-08-14 |
Not clear |
| Misbahuddin M Rafeeq, Muhammad Umair, Muhammad Bilal, Alaa Hamed Habib, Ahmed Waqas, Ziaullah M Sain, Mohammad Zubair Alam, Raja Hussain Al. A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia. Neurogenetics. 2022-10-03. PMID:36190665. |
cerebellar ataxias (cas) comprise a rare group of neurological disorders characterized by extensive phenotypic and genetic heterogeneity. |
2022-10-03 |
2023-08-14 |
Not clear |
| Marjolaine Tremblay, Laura Girard-Côté, Bernard Brais, Cynthia Gagno. Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome. Orphanet journal of rare diseases. vol 17. issue 1. 2022-10-01. PMID:36183078. |
autosomal recessive cerebellar ataxias (arca) are a group of rare inherited disorders characterized by degeneration or abnormal development of the cerebellum. |
2022-10-01 |
2023-08-14 |
Not clear |
| Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Koenig, Alexandra Durr, Mathieu Anhei. The inherited cerebellar ataxias: an update. Journal of neurology. 2022-09-24. PMID:36152050. |
the inherited cerebellar ataxias: an update. |
2022-09-24 |
2023-08-14 |
Not clear |
| Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Koenig, Alexandra Durr, Mathieu Anhei. The inherited cerebellar ataxias: an update. Journal of neurology. 2022-09-24. PMID:36152050. |
this narrative review aims at providing an update on the management of inherited cerebellar ataxias (icas), describing main clinical entities, genetic analysis strategies and recent therapeutic developments. |
2022-09-24 |
2023-08-14 |
Not clear |
| Giulia Coarelli, Thomas Wirth, Christine Tranchant, Michel Koenig, Alexandra Durr, Mathieu Anhei. The inherited cerebellar ataxias: an update. Journal of neurology. 2022-09-24. PMID:36152050. |
to guide diagnosis, several algorithms and a new genetic nomenclature for recessive cerebellar ataxias have been proposed. |
2022-09-24 |
2023-08-14 |
Not clear |
| Marios Hadjivassiliou, Mario Manto, Hiroshi Mitom. Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges. Brain sciences. vol 12. issue 9. 2022-09-23. PMID:36138901. |
rare etiologies in immune-mediated cerebellar ataxias: diagnostic challenges. |
2022-09-23 |
2023-08-14 |
Not clear |
| Marios Hadjivassiliou, Mario Manto, Hiroshi Mitom. Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges. Brain sciences. vol 12. issue 9. 2022-09-23. PMID:36138901. |
immune-mediated cerebellar ataxias (imcas) have diverse etiologies, such as gluten ataxia (ga), post-infectious cerebellitis (pic), miller fisher syndrome (mfs), paraneoplastic cerebellar degeneration (pcd), opsoclonus myoclonus syndrome (oms), and anti-gad ataxia. |
2022-09-23 |
2023-08-14 |
Not clear |
| Lazaros C Triarhou, Mario Mant. The Discovery of the Monoaminergic Innervation of the Cerebellum: Convergence of Divergent and Point-to-Point Systems. Cerebellum (London, England). 2022-09-23. PMID:36149526. |
the discovery of noradrenergic and serotoninergic innervation of the cerebellum has been a crucial step in understanding the neurochemical relationships between brainstem nuclei and the cerebellum, and the attempts to treat cerebellar ataxias pharmacologically. |
2022-09-23 |
2023-08-14 |
Not clear |
| Hoda Ranjbar, Monavareh Soti, Kristi A Kohlmeier, Vahid Sheibani, Meysam Ahmadi-Zeidabadi, Kiana Rafiepour, Mohammad Shaban. The cannabinoid antagonist, AM251 attenuates Ataxia related deficiencies in a cerebellar ataxic model. The International journal of neuroscience. 2022-09-19. PMID:36120979. |
the cannabinoid antagonist, am251 attenuates ataxia related deficiencies in a cerebellar ataxic model. |
2022-09-19 |
2023-08-14 |
Not clear |
| Takehiro Takahashi, Milan Stoiljkovic, Eric Song, Xiao-Bing Gao, Yuki Yasumoto, Eriko Kudo, Fernando Carvalho, Yong Kong, Annsea Park, Marya Shanabrough, Klara Szigeti-Buck, Zhong-Wu Liu, Ashley Kristant, Yalan Zhang, Parker Sulkowski, Peter M Glazer, Leonard K Kaczmarek, Tamas L Horvath, Akiko Iwasak. LINE-1 activation in the cerebellum drives ataxia. Neuron. 2022-09-07. PMID:36070749. |
line-1 activation in the cerebellum drives ataxia. |
2022-09-07 |
2023-08-14 |
mouse |
| Takehiro Takahashi, Milan Stoiljkovic, Eric Song, Xiao-Bing Gao, Yuki Yasumoto, Eriko Kudo, Fernando Carvalho, Yong Kong, Annsea Park, Marya Shanabrough, Klara Szigeti-Buck, Zhong-Wu Liu, Ashley Kristant, Yalan Zhang, Parker Sulkowski, Peter M Glazer, Leonard K Kaczmarek, Tamas L Horvath, Akiko Iwasak. LINE-1 activation in the cerebellum drives ataxia. Neuron. 2022-09-07. PMID:36070749. |
we demonstrated that l1 activation in the cerebellum led to purkinje cell dysfunctions and degeneration and was sufficient to cause ataxia. |
2022-09-07 |
2023-08-14 |
mouse |
| Pallavi Asthana, Gajendra Kumar, Lukasz M Milanowski, Ngan Pan Bennett Au, Siu Chung Chan, Jianpan Huang, Hemin Feng, Kin Ming Kwan, Jufang He, Kannie Wai Yan Chan, Zbigniew K Wszolek, Chi Him Eddie M. Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression. NPJ Regenerative medicine. vol 7. issue 1. 2022-09-06. PMID:36064798. |
here, we demonstrated disrupted cerebellar circuitry and poor motor recovery in ataxia mice after pni. |
2022-09-06 |
2023-08-14 |
mouse |
| Pallavi Asthana, Gajendra Kumar, Lukasz M Milanowski, Ngan Pan Bennett Au, Siu Chung Chan, Jianpan Huang, Hemin Feng, Kin Ming Kwan, Jufang He, Kannie Wai Yan Chan, Zbigniew K Wszolek, Chi Him Eddie M. Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression. NPJ Regenerative medicine. vol 7. issue 1. 2022-09-06. PMID:36064798. |
by restoring cerebellar circuitry through dcn stimulation, and reversal of neurotransmitter imbalance using baclofen, ataxia mice achieve full motor recovery after pni. |
2022-09-06 |
2023-08-14 |
mouse |
| Albert Stezin, Pramod Kumar Pa. Treatable Ataxias: How to Find the Needle in the Haystack? Journal of movement disorders. 2022-09-06. PMID:36065614. |
treatable ataxias with immune-mediated etiologies include gluten ataxia, anti-glutamic acid decarboxylase antibody-associated ataxia, steroid-responsive encephalopathy associated with autoimmune thyroiditis, miller-fisher syndrome, multiple sclerosis, and paraneoplastic cerebellar degeneration. |
2022-09-06 |
2023-08-14 |
Not clear |
| Albert Stezin, Pramod Kumar Pa. Treatable Ataxias: How to Find the Needle in the Haystack? Journal of movement disorders. 2022-09-06. PMID:36065614. |
infective and parainfectious causes of cerebellar ataxias include acute cerebellitis, postinfectious ataxia, whipple's disease, meningoencephalitis, and progressive multifocal leukoencephalopathy. |
2022-09-06 |
2023-08-14 |
Not clear |
| Akira Takekoshi, Akio Kimura, Nobuaki Yoshikura, Isamu Yamakawa, Makoto Urushitani, Katsuya Nakamura, Kunihiro Yoshida, Takayoshi Shimohat. Clinical Features and Neuroimaging Findings of Neuropil Antibody-Positive Idiopathic Sporadic Ataxia of Unknown Etiology. Cerebellum (London, England). 2022-09-03. PMID:36057079. |
using tissue-based immunofluorescence assays (tbas), we examined antibodies against the cerebellum in serum samples from 67 patients who met the isa diagnostic criteria, including 30 patients with multiple system atrophy with predominant cerebellar features (msa-c) and 20 patients with hereditary ataxia (ha), and 18 healthy control subjects. |
2022-09-03 |
2023-08-14 |
human |