Katrina Montales, Kenna Ruis, Howard D. Lindsay, W. Matthew Michael,
A taxia T elangiectasia mutated and R AD3-related (ATR) kinase is activated by DNA replication stress and also ... NBS1 (MRN), CtBP interacting protein (CtIP), and A taxia T elangiectasia mutated (ATM) network of proteins. Loss ...
Tópico(s): Carcinogens and Genotoxicity Assessment
2022 - Public Library of Science | PLoS ONE
Peng Soon Ng, Marcus Vinícius Pinto, Jadee Neff, Linda Hasadsri, Edward W. Highsmith, Mary E. Fidler, Ralitza H. Gavrilova, Christopher J. Klein,
... an expanded nomenclature, m itochondrial c erebellar a taxia, r enal failure, n europathy, and e ncephalopathy ( ...
Tópico(s): ATP Synthase and ATPases Research
2019 - Wolters Kluwer | Neurology Genetics
Alain Verloès, C Lambotte, Giovanni Neri, James F. Reynolds,
... erebellar vermis hypo/aplasia, O ligophrenia, congenital A taxia, C oloboma, Hepatic fibrocirrhosis) is suggested.
Tópico(s): Fetal and Pediatric Neurological Disorders
1989 - Wiley | American Journal of Medical Genetics
Mathilda A. Papathanasiou, Niall C. K. Kerr, Jay H. Robbins, O. Wesley McBride, Isaac Alamo, Susanna F. Barrett, Ian D. Hickson, Albert J. Fornace,
... independent of PKC and which is abnormal in taxia telangiectasia.
Tópico(s): Carcinogens and Genotoxicity Assessment
1991 - Taylor & Francis | Molecular and Cellular Biology
M. Papathanasiou, Natalie C. Kerr, J.H. Robbins, O. Wesley McBride, Isaac Alamo, Susanna F. Barrett, Ian D. Hickson, Albert J. Fornace,
... independent of PKC and which is abnormal in taxia telangiectasia.
Tópico(s): DNA Repair Mechanisms
1991 - Taylor & Francis | Molecular and Cellular Biology
A taxia-telangiectasia (A-T) is a multisystem autosomal recessive disorder, with an estimated frequency of 1/40 000- ...
Tópico(s): Cancer-related Molecular Pathways
2002 - BMJ | Journal of Medical Genetics
Roger Wolman, Catherine Cornall, Kathy Fulcher, Richard Greenwood,
... with a combination of impairments including weakness, spasticity, taxia and cognitive problems. Each patient performed an exercise ...
Tópico(s): Stroke Rehabilitation and Recovery
1994 - SAGE Publishing | Clinical Rehabilitation
François‐Guillaume Debray, Marie Lambert, Anne Lortie, Michel Vanasse, Grant A. Mitchell,
... nucleotide 8993 can cause n eurogenic weakness, a taxia and r etinitis p igmentosa (NARP syndrome), or ...
Tópico(s): Metabolism and Genetic Disorders
2007 - Wiley | American Journal of Medical Genetics Part A
Julie Steffann, Nadine Gigarel, Johanna Corcos, Maryse Bonnière, Férechté Encha‐Razavi, M Sinico, S. Prévot, Yves Dumez, Amina Yamgnane, R. Frydman, Arnold Münnich, Jean‐Paul Bonnefont,
... diagnoses for the NARP ( n eurogenic weakness, a taxia, r etinitis p igmentosa) m.8993T→G mtDNA ...
Tópico(s): RNA modifications and cancer
2007 - BMJ | Journal of Medical Genetics
Steven W. Lingafelter, Eugenio H. Nearns,
Five new species of longhorned beetles (Coleoptera: Cerambycidae) from the Dominican Republic are diagnosed, described, and illustrated: Ataxia hovorei, Atimiola rickstanleyi, Drycothaea indistincta, Eburia pseudostigma, and Hormathus giesberti. In addition, Hormathus Gahan 1890 is transferred from Tillomorphini Lacordaire into Ibidionini Thomson, Division V; Trinoplon Zayas 1975 is a new synonym of Hormathus; and Hormathus bicolor (Zayas 1975) is a new combination. A key to the three species of Hormathus ...
Tópico(s): Coleoptera Taxonomy and Distribution
2007 - The Coleopterists Society | The Coleopterists Bulletin
Tobias Eisenberger, Rima Slim, Ahmad M. Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno J. Bolz,
... cause PHARC ( p olyneuropathy, h earing loss, a taxia, r etinitis pigmentosa, and early-onset c ataract). ...
Tópico(s): Retinal Development and Disorders
2012 - BioMed Central | Orphanet Journal of Rare Diseases
Lauren E. Fitzpatrick, Martin Jackson, Simon F. Crowe,
... group using the I nternational C ooperative A taxia R ating S cale ( ICARS ). Methods We compared ...
Tópico(s): Neurological and metabolic disorders
2012 - Wiley | Alcoholism Clinical and Experimental Research
George Fein, Stan Smith, David Greenstein,
... study employed the W alk‐a‐Line A taxia B attery ( F regly et al. A lcohol ...
Tópico(s): Parkinson's Disease Mechanisms and Treatments
2012 - Wiley | Alcoholism Clinical and Experimental Research
Giuliana Giardino, Anna Fusco, Rosa Romano, Vera Gallo, Francesca Maio, Tiziana Esposito, Loredana Palamaro, Giancarlo Parenti, Mariacarolina Salerno, Pietro Vajro, Claudio Pignata,
Ataxia telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive neurological dysfunction. To date, only supportive care aimed to halt the progressive neurodegeneration is available for the treatment. Recently, an improvement of neurological signs during short-term treatment with betamethasone has been reported. To date, the molecular and biochemical mechanisms by which the steroid produces such effects have not yet been elucidated. Therefore, a review of the literature ...
Tópico(s): Carcinogens and Genotoxicity Assessment
2012 - Wiley | European Journal of Neurology
Paul J. Hagerman, Randi J. Hagerman,
... the f ragile X‐ associated t remor/ a taxia s yndrome (FXTAS). FXTAS also represents a new ...
Tópico(s): Ubiquitin and proteasome pathways
2004 - Wiley | Mental Retardation and Developmental Disabilities Research Reviews
Julia C. Mallory, Thomas D. Petes,
... relative of these proteins is the human A taxia T elangiectasia M utated (ATM) protein, a wortmannin- ...
Tópico(s): Genomics and Chromatin Dynamics
2000 - National Academy of Sciences | Proceedings of the National Academy of Sciences
Sandrine Alonso, Mary Ella Pierpont, Wolfgang Radtke, José Martinez, Su‐chiung Chen, James W. Grant, Ingo Dähnert, Sylvie Taviaux, Marie‐Catherine Romey, Jacques Demaille, Patrice Bouvagnet,
Abstract Previous familial cases of recurrent hetero‐taxia have suggested an autosomal recessive or exceptionally X‐linked or dominant inheritance. Here, we report six families including 18 affected members, consistent with ...
Tópico(s): Connective tissue disorders research
1995 - Wiley | American Journal of Medical Genetics
Elizabeth O’Hearn, Hyon S. Hwang, Susan E. Holmes, Dobrila D. Rudnicki, Daniel W. Chung, Ana I. Seixas, Rachael Cohen, Christopher A. Ross, John Q. Trojanowski, Olga Pletniková, Juan C. Troncoso, Russell L. Margolis,
ABSTRACT Objective SCA12 is a progressive autosomal‐dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes cognitive impairment. Neuroimaging has demonstrated cerebellar and cortical atrophy. We now present the neuropathology of the first autopsied SCA12 brain and utilize cell models to characterize potential mechanisms of SCA12 neurodegeneration. ...
Tópico(s): Genetics and Neurodevelopmental Disorders
2015 - Wiley | Movement Disorders
... relative humidity of 60% ± 5%, and a Ven- taxia extraction fan was used to ensure good circulation ...
Tópico(s): Light effects on plants
1999 - Taylor & Francis | Journal of Apicultural Research
Justine Lerat, Pascal Cintas, Hélène Beauvais‐Dzugan, Corinne Magdelaine, Franck Sturtz, Anne‐Sophie Lia,
... demyelinating P olyneuropathy, H earing loss, cerebellar A taxia, R etinitis pigmentosa, and early‐onset C ataracts ( ...
Tópico(s): Neuroscience and Neuropharmacology Research
2017 - Wiley | Journal of the Peripheral Nervous System
Sunyuan Zhang, Nicholas A. Williamson, Marie A. Bogoyevitch,
... onset neurodegenerative disease S pino c erebellar a taxia type 1 (SCA1). To identify protein partners of ...
Tópico(s): Mitochondrial Function and Pathology
2018 - Nature Portfolio | Scientific Data
Laura Licchetta, Lorenzo Ferri, Chiara La Morgia, Corrado Zenesini, Leonardo Caporali, Maria Lucia Valentino, Raffaella Minardi, D. Fulitano, Lidia Di Vito, Barbara Mostacci, Lara Alvisi, Patrizia Avoni, Rocco Liguori, Paolo Tinuper, Francesca Bisulli, Valério Carelli,
... s s yndrome (MILS) and n europathy, a taxia, r etinitis p igmentosa (NARP) due to mutations ...
Tópico(s): Epilepsy research and treatment
2021 - Wiley | Annals of Clinical and Translational Neurology
... present in minute amounts in the bark of Taxia brevifolia. A sustainable supply was ensured with a ...
Tópico(s): 14-3-3 protein interactions
2022 - Multidisciplinary Digital Publishing Institute | Molecules
Sandra Vogel, Thomas Herzinger,
... N ijmegen breakage syndrome ( N bs), or A taxia telangiectasia mutated ( A tm) were treated with ultraviolet ...
Tópico(s): Ubiquitin and proteasome pathways
2013 - Wiley | Photodermatology Photoimmunology & Photomedicine
Produção Nacional
Rodrigo Giovanella, Márcio Pereira da Rocha, S. L. M. Berleze,
... e responder a seus estímulos, por meio de taxia negativa (afastamento da fonte do campo) e movimentações ...
Tópico(s): Agricultural and Food Sciences
2014 - UNIVERSIDADE FEDERAL RURAL DO RIO DE JANEIRO | Floresta e Ambiente
Cristhian Cedeño-Moreira, Daniel Acosta-Farina, Diego Israel León Ochoa, Rommel Gonzalo Oviedo Vargas,
... a 18 (36%) se les realizó laparotomía exploradora + taxia desinvaginante. En un porcentaje mayoritario a 47 pacientes ( ... laparoscopy, while 18 (36%) underwent exploratory laparotomy + disinvaginating taxia. In a majority percentage, 47 patients (94%) underwent ...
Tópico(s): Congenital Diaphragmatic Hernia Studies
2022 - | Más Vita
A. Barbeau, M Bertrand, Rémi W. Bouchard, Guy Gauthier, J.P. Bouchard,
... not the genetic defect in Friedreich’s A taxia.
Tópico(s): Mitochondrial Function and Pathology
1982 - Cambridge University Press | Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
... mus-cular; equilibrio estatico e marcha; coordenacao motora: taxia; transtornos do movimento; funcoes de comunicacao, palavra e ...
Tópico(s): Linguistics and Language Studies
2008 - Thieme Medical Publishers (Germany) | Arquivos de Neuro-Psiquiatria
Gyoungim Suh, Won Chan Kim, Myung Sik Lee,
Sp inocerebe llar a taxia type 8 patients typ ica lly have a s low ly progress ive, adu lt-onset ataxia. SCA8 is characterized ...
Tópico(s): Ubiquitin and proteasome pathways
2008 - Korean Movement Disorders Society | Journal of Movement Disorders
D.G. Fullerton, R. Chisholm, H. Reid, Ronan O’Driscoll, P. N. Cooper,
... coeliac disease are well recognized (e.g. gluten taxia) and T cell lymphoma is an associated complication ...
Tópico(s): Whipple's Disease and Interleukins
2005 - Elsevier BV | Respiratory Medicine Extra