Zeitschriftenartikel zum Thema „Ataxia Genetic aspects“
Geben Sie eine Quelle nach APA, MLA, Chicago, Harvard und anderen Zitierweisen an
Machen Sie sich mit Top-50 Zeitschriftenartikel für die Forschung zum Thema "Ataxia Genetic aspects" bekannt.
Neben jedem Werk im Literaturverzeichnis ist die Option "Zur Bibliographie hinzufügen" verfügbar. Nutzen Sie sie, wird Ihre bibliographische Angabe des gewählten Werkes nach der nötigen Zitierweise (APA, MLA, Harvard, Chicago, Vancouver usw.) automatisch gestaltet.
Sie können auch den vollen Text der wissenschaftlichen Publikation im PDF-Format herunterladen und eine Online-Annotation der Arbeit lesen, wenn die relevanten Parameter in den Metadaten verfügbar sind.
Sehen Sie die Zeitschriftenartikel für verschiedene Spezialgebieten durch und erstellen Sie Ihre Bibliographie auf korrekte Weise.
Pandolfo, Massimo. „Friedreich ataxia: clinical and genetic aspects“. Neuromuscular Disorders 7, Nr. 6-7 (September 1997): 465. http://dx.doi.org/10.1016/s0960-8966(97)87318-x.
Kumar, D. „Genetic aspects of congenital cerebellar ataxia“. Indian Journal of Pediatrics 53, Nr. 6 (November 1986): 761–73. http://dx.doi.org/10.1007/bf02748571.
Martins Junior, Carlos Roberto, Fabrício Castro de Borba, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Iscia Lopes Cendes, José Luiz Pedroso, Orlando Graziani Povoas Barsottini und Marcondes Cavalcante França Júnior. „Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1“. Arquivos de Neuro-Psiquiatria 76, Nr. 8 (August 2018): 555–62. http://dx.doi.org/10.1590/0004-282x20180080.
Tamega, Abdoulaye, Landoure Guida, Seybou Hassane Diallo, Coulibaly Thomas, Toumany Coulibaly, Lassana Cisse, H. Fischbeck Kenneth und O. Cheick Guinto. „Spinocerebellar Ataxia Type 3 (SCA3): Clinical and genetic aspects in Mali“. Revue Neurologique 178 (April 2022): S48. http://dx.doi.org/10.1016/j.neurol.2022.02.228.
Capelli, Leonardo Pires, Márcia Rúbia Rodrigues Gonçalves, Claudia C. Leite, Egberto R. Barbosa, Ricardo Nitrini und Angela M. Vianna-Morgante. „The fragile x-associated tremor and ataxia syndrome (FXTAS)“. Arquivos de Neuro-Psiquiatria 68, Nr. 5 (Oktober 2010): 791–98. http://dx.doi.org/10.1590/s0004-282x2010000500023.
Bertholon, P., S. Chabrier, F. Riant, E. Tournier-Lasserve und R. Peyron. „Episodic ataxia type 2: unusual aspects in clinical and genetic presentation. Special emphasis in childhood“. Journal of Neurology, Neurosurgery & Psychiatry 80, Nr. 11 (28.10.2009): 1289–92. http://dx.doi.org/10.1136/jnnp.2008.159103.
Barca, Emanuele, Valentina Emmanuele, Salvatore DiMauro, Antonio Toscano und Catarina M. Quinzii. „Anti-Oxidant Drugs: Novelties and Clinical Implications in Cerebellar Ataxias“. Current Neuropharmacology 17, Nr. 1 (05.12.2018): 21–32. http://dx.doi.org/10.2174/1570159x15666171109125643.
Rojas, Pilar, Rosa de Hoz, Manuel Cadena, Elena Salobrar-García, José A. Fernández-Albarral, Inés López-Cuenca, Lorena Elvira-Hurtado et al. „Neuro-Ophthalmological Findings in Friedreich’s Ataxia“. Journal of Personalized Medicine 11, Nr. 8 (23.07.2021): 708. http://dx.doi.org/10.3390/jpm11080708.
Di Domenico, Enea Gino, Elena Romano, Paola Del Porto und Fiorentina Ascenzioni. „Multifunctional Role of ATM/Tel1 Kinase in Genome Stability: From the DNA Damage Response to Telomere Maintenance“. BioMed Research International 2014 (2014): 1–17. http://dx.doi.org/10.1155/2014/787404.
Vinante, Elena, Elena Colombo, Gabriella Paparella, Michela Martinuzzi und Andrea Martinuzzi. „Respiratory Function in Friedreich’s Ataxia“. Children 9, Nr. 9 (29.08.2022): 1319. http://dx.doi.org/10.3390/children9091319.
Yang, Lili, Xiaoli Shu, Shujiong Mao, Yi Wang, Xiaonan Du und Chaochun Zou. „Genotype–Phenotype Correlations in Angelman Syndrome“. Genes 12, Nr. 7 (28.06.2021): 987. http://dx.doi.org/10.3390/genes12070987.
Di Stefano, Vincenzo, Marianna Gabriella Rispoli, Noemi Pellegrino, Alessandro Graziosi, Eleonora Rotondo, Christian Napoli, Daniela Pietrobon, Filippo Brighina und Pasquale Parisi. „Diagnostic and therapeutic aspects of hemiplegic migraine“. Journal of Neurology, Neurosurgery & Psychiatry 91, Nr. 7 (19.05.2020): 764–71. http://dx.doi.org/10.1136/jnnp-2020-322850.
Arruda, Walter O., Luiz F. B. Torres, Anne lombes, Salvatore Dimauro, Belkiss A. Cardoso, Hélio A. G. Teive, Duilton de Paola und Ricardo R. Seixas. „Mitochondrial myopathy and myoclonic epilepsy“. Arquivos de Neuro-Psiquiatria 48, Nr. 1 (März 1990): 32–43. http://dx.doi.org/10.1590/s0004-282x1990000100006.
Kumar, D., und W. R. Timperley. „The clinical, pathological and genetic aspects of sporadic late onset cerebellar ataxia: observations on a series of ten patients“. Acta Neurologica Scandinavica 77, Nr. 3 (März 1988): 181–86. http://dx.doi.org/10.1111/j.1600-0404.1988.tb05892.x.
Abuhusain, Hazem, und Veejay Bagga. „Redefining a Rare CNS Tumour Through Targeted Genetic Sequencing“. Neuro-Oncology 24, Supplement_4 (01.10.2022): iv15—iv16. http://dx.doi.org/10.1093/neuonc/noac200.068.
Harding, A. E. „Degenerative ataxias: Genetic aspects“. Movement Disorders 7, S1 (1992): 5. http://dx.doi.org/10.1002/mds.870070506.
Rad, Abolfazl, Umut Altunoglu, Rebecca Miller, Reza Maroofian, Kiely N. James, Ahmet Okay Çağlayan, Maryam Najafi et al. „MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)“. Journal of Medical Genetics 56, Nr. 5 (28.11.2018): 332–39. http://dx.doi.org/10.1136/jmedgenet-2018-105623.
Angeloni, Cristina, Martina Gatti, Cecilia Prata, Silvana Hrelia und Tullia Maraldi. „Role of Mesenchymal Stem Cells in Counteracting Oxidative Stress—Related Neurodegeneration“. International Journal of Molecular Sciences 21, Nr. 9 (07.05.2020): 3299. http://dx.doi.org/10.3390/ijms21093299.
Liyanage, Marek, Zoë Weaver, Carrolee Barlow, Allen Coleman, Daniel G. Pankratz, Stacie Anderson, Anthony Wynshaw-Boris und Thomas Ried. „Abnormal rearrangement within the α/δ T-cell receptor locus in lymphomas from Atm-deficient mice“. Blood 96, Nr. 5 (01.09.2000): 1940–46. http://dx.doi.org/10.1182/blood.v96.5.1940.
Liyanage, Marek, Zoë Weaver, Carrolee Barlow, Allen Coleman, Daniel G. Pankratz, Stacie Anderson, Anthony Wynshaw-Boris und Thomas Ried. „Abnormal rearrangement within the α/δ T-cell receptor locus in lymphomas from Atm-deficient mice“. Blood 96, Nr. 5 (01.09.2000): 1940–46. http://dx.doi.org/10.1182/blood.v96.5.1940.h8001940_1940_1946.
Honti, Viktor, und L�szl� V�csei. „Genetic and molecular aspects of spinocerebellar ataxias“. Neuropsychiatric Disease and Treatment 1, Nr. 2 (2005): 125–33. http://dx.doi.org/10.2147/nedt.1.2.125.61044.
Shuvaev, A. N., O. S. Belozor, M. V. Smolnikova, D. A. Yakovleva, Andr N. Shuvaev, O. M. Kazantseva, E. A. Pozhilenkova, O. I. Mozhei und S. Kasparov. „Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions“. Vavilov Journal of Genetics and Breeding 23, Nr. 4 (07.07.2019): 473–81. http://dx.doi.org/10.18699/vj19.516.
Furtado, Sarah, Shyamal Das und Oksana Suchowersky. „A review of the inherited ataxias: recent advances in genetic, clinical and neuropathologic aspects“. Parkinsonism & Related Disorders 4, Nr. 4 (Dezember 1998): 161–69. http://dx.doi.org/10.1016/s1353-8020(98)00030-3.
de Lange, Titia. „Shelterin-Mediated Telomere Protection“. Annual Review of Genetics 52, Nr. 1 (23.11.2018): 223–47. http://dx.doi.org/10.1146/annurev-genet-032918-021921.
Paneque, H. M., A. L. Prieto, R. R. Reynaldo, M. T. Cruz, F. N. Santos, M. L. Almaguer, P. L. Velázquez und B. L. Heredero. „Psychological Aspects of Presymptomatic Diagnosis of Spinocerebellar Ataxia Type 2 in Cuba“. Public Health Genomics 10, Nr. 3 (2007): 132–39. http://dx.doi.org/10.1159/000101754.
Eveillard, Marion, Myriam Chevalier, Thomas Besnard, Benjamin Cogne, Alice Kuster, Stephane Bezieau, Marie C. Bene und Claire Beneteau. „Polymorphonuclears Display a New Type of Abnormal Cytologic Granules (Chediak Higashi-Like) in a Very Rare Syndrome Linked to a Biallelic Defect of WDR81“. Blood 128, Nr. 22 (02.12.2016): 1331. http://dx.doi.org/10.1182/blood.v128.22.1331.1331.
Ijim, Fadoua, Mehdi El Kourchi und Soukaina Wakrim. „The Molar Tooth Sign of Brain Mri: A Case Report of Joubert Syndrome“. Scholars Journal of Medical Case Reports 10, Nr. 9 (09.09.2022): 879–82. http://dx.doi.org/10.36347/sjmcr.2022.v10i09.006.
Veneri, Giacomo, Antonio Federico und Alessandra Rufa. „Evaluating the Influence of Motor Control on Selective Attention through a Stochastic Model: The Paradigm of Motor Control Dysfunction in Cerebellar Patient“. BioMed Research International 2014 (2014): 1–13. http://dx.doi.org/10.1155/2014/162423.
OLIVER, Peter L., und Kay E. DAVIES. „Analysis of human neurological disorders using mutagenesis in the mouse“. Clinical Science 108, Nr. 5 (22.04.2005): 385–97. http://dx.doi.org/10.1042/cs20050041.
Frontali, M., A. Novelletto, G. Annesi und C. Jodice. „CAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci“. Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 354, Nr. 1386 (29.06.1999): 1089–94. http://dx.doi.org/10.1098/rstb.1999.0464.
Kalasova, Ilona, Richard Hailstone, Janin Bublitz, Jovel Bogantes, Winfried Hofmann, Alejandro Leal, Hana Hanzlikova und Keith W. Caldecott. „Pathological mutations in PNKP trigger defects in DNA single-strand break repair but not DNA double-strand break repair“. Nucleic Acids Research 48, Nr. 12 (06.06.2020): 6672–84. http://dx.doi.org/10.1093/nar/gkaa489.
Tulli, Susanna, Andrea Del Bondio, Valentina Baderna, Davide Mazza, Franca Codazzi, Tyler Mark Pierson, Alessandro Ambrosi et al. „Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation“. Journal of Medical Genetics 56, Nr. 8 (25.03.2019): 499–511. http://dx.doi.org/10.1136/jmedgenet-2018-105766.
Argenta, Fernando Froner, Sissy Hobbhahn, Maria Ines Witz, Luiz Cezar Bello Fallavena und Anamaria Telles Esmeraldino. „Hepatite lobular dissecante em dois caninos Golden Retriever não relacionados geneticamente“. Acta Scientiae Veterinariae 45 (27.06.2017): 5. http://dx.doi.org/10.22456/1679-9216.86080.
Cortese, Andrea, Riccardo Curro', Elisa Vegezzi, Wai Yan Yau, Henry Houlden und Mary M. Reilly. „Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects“. Practical Neurology, 13.08.2021, practneurol—2020–002822. http://dx.doi.org/10.1136/practneurol-2020-002822.
Ali, Benomar. „The clinical and genetic aspects of autosomal recessive cerebellar ataxia“. Frontiers in Neuroscience 3 (2009). http://dx.doi.org/10.3389/conf.neuro.01.2009.16.113.
Gorcenco, Sorina, Christin Karremo und Andreas Puschmann. „Patients’ Perspective in Hereditary Ataxia“. Cerebellum, 16.12.2022. http://dx.doi.org/10.1007/s12311-022-01505-1.
Chen, Jiannan, Zhe Zhao, Hongrui Shen, Qi Bing, Nan Li, Xuan Guo und Jing Hu. „Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations“. BMC Neurology 22, Nr. 1 (16.05.2022). http://dx.doi.org/10.1186/s12883-022-02708-z.
Bonventre, Joseph V. „Ataxia Telangiectasia and Rad3-Related Activation by DNA Damage Mitigates Maladaptive Repair after Acute Kidney Injury“. Nephron, 14.10.2021, 1–4. http://dx.doi.org/10.1159/000519447.
Bonventre, Joseph V. „Ataxia Telangiectasia and Rad3-Related Activation by DNA Damage Mitigates Maladaptive Repair after Acute Kidney Injury“. Nephron, 14.10.2021, 1–4. http://dx.doi.org/10.1159/000519447.
Rawat, Amit, Madhubala Sharma, Pandiarajan Vignesh, Ankur Kumar Jindal, Deepti Suri, Jhumki Das, Vibhu Joshi et al. „Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India“. Scientific Reports 12, Nr. 1 (21.06.2022). http://dx.doi.org/10.1038/s41598-022-14522-1.
Lupica, Antonino, Rosaria Oteri, Sara Volta, Daniele Ghezzi, Selene Francesca Anna Drago, Carmelo Rodolico, Olimpia Musumeci und Antonio Toscano. „Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects“. Frontiers in Neurology 13 (03.03.2022). http://dx.doi.org/10.3389/fneur.2022.815523.
Nóbrega, Paulo Ribeiro, Anderson Moura Bernardes, Rodrigo Mariano Ribeiro, Sophia Costa Vasconcelos, David Augusto Batista Sá Araújo, Vitor Carneiro de Vasconcelos Gama, Helena Fussiger et al. „Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment“. Frontiers in Neurology 13 (23.12.2022). http://dx.doi.org/10.3389/fneur.2022.1049850.
Sleigh, James, und David Sattelle. „C. elegans models of neuromuscular diseases expedite translational research“. Translational Neuroscience 1, Nr. 3 (01.01.2010). http://dx.doi.org/10.2478/v10134-010-0032-9.
Tremblay, Marjolaine, Laura Girard-Côté, Bernard Brais und Cynthia Gagnon. „Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome“. Orphanet Journal of Rare Diseases 17, Nr. 1 (01.10.2022). http://dx.doi.org/10.1186/s13023-022-02497-1.
Dupré, Mathieu, Ruben Hermann und Caroline Froment Tilikete. „Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS)“. Cerebellum, 04.10.2020. http://dx.doi.org/10.1007/s12311-020-01192-w.
Asher, Melissa, Juao-Guilherme Rosa, Orion Rainwater, Lisa Duvick, Michael Bennyworth, Ruo-Yah Lai, Sheng-Han Kuo und Marija Cvetanovic. „Cerebellar contribution to the cognitive alterations in SCA1: evidence from mouse models“. Human Molecular Genetics, 07.11.2019. http://dx.doi.org/10.1093/hmg/ddz265.
BAYAZIT, Beray, Gülnihal UÇARKUŞ, Burcu ÇAĞLAR GENÇOSMAN und Mehmet A. BEĞEN. „Meta-Heuristic Algorithms based on Integer Programming for Shelf Space Allocation Problems“. European Journal of Science and Technology, 23.09.2022. http://dx.doi.org/10.31590/ejosat.1121006.
Loesch, Danuta Z., Flora Tassone, Anna Atkinson, Paige Stimpson, Nicholas Trost, Dean L. Pountney und Elsdon Storey. „Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement“. Frontiers in Molecular Biosciences 7 (12.01.2021). http://dx.doi.org/10.3389/fmolb.2020.577246.
Ishiura, Hiroyuki, Shoji Tsuji und Tatsushi Toda. „Recent advances in CGG repeat diseases and a proposal of fragile X-associated tremor/ataxia syndrome, neuronal intranuclear inclusion disease, and oculophryngodistal myopathy (FNOP) spectrum disorder“. Journal of Human Genetics, 20.01.2023. http://dx.doi.org/10.1038/s10038-022-01116-y.
Bowie, Emily, und Sarah C. Goetz. „TTBK2 and primary cilia are essential for the connectivity and survival of cerebellar Purkinje neurons“. eLife 9 (14.01.2020). http://dx.doi.org/10.7554/elife.51166.