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Title:	Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
Source:	Nature Genetics [1061-4036] Takashima, Hiroshi yr:2002

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description	1.	Guerrini, R. "Genetic malformations of cortical development." Experimental brain research 173.2 (2006): 322-333.
description	2.	West, Stephen C C. "Defective DNA repair and neurodegenerative disease." Cell 130.6 (2007): 991-1004.
description	3.	Wilson, D. "Processing of nonconventional DNA strand break ends." Environmental and molecular mutagenesis 48.9 (2007): 772-782.
description	4.	Zhou, T. "Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)." Nucleic acids research 33.1 (2005): 289-297.
description	5.	Saïd, M. "Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies." Brain 126.12: 2761-2772.
description	6.	Guerrini, R. "Genetic malformations of the cerebral cortex and epilepsy." Epilepsia 46.1: 32-37.
description	7.	Chelly, J. "The role of ARX in cortical development." The European journal of neuroscience 23.4 (2006): 869-76.
description	8.	Guerrini, R. "Neuronal migration disorders, genetics, and epileptogenesis." Journal of child neurology 20.4: 287-299.
description	9.	Barkovich, A J J. "A developmental and genetic classification for malformations of cortical development." Neurology 65.12: 1873-1887.
description	10.	Anheim, M. "Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients." Brain 132.10 (2009): 2688-2698.
description	11.	Dianov, Grigory L L. "Co-ordination of DNA single strand break repair." DNA repair 6.4 (2007): 454-60.
description	12.	Sedgwick, B. "Repairing DNA-methylation damage." Nature reviews. Molecular cell biology 5.2 (2004): 148-57.
description	13.	McKinnon, Peter J. "DNA Strand Break Repair and Human Genetic Disease." Annual review of genomics and human genetics 8.1 (2007): 37-55.
description	14.	Pommier, Y. "Tyrosyl-DNA-phosphodiesterases (TDP1 and TDP2)." DNA repair 19 (2014): 114-129.
description	15.	Katyal S, McKinnon PJ;, S. "DNA strand breaks, neurodegeneration and aging in the brain." Mechanisms of Ageing and Development 129.7-8 (2008): 483-491.
description	16.	Saydam, N. "Physical and functional interactions between Werner syndrome helicase and mismatch-repair initiation factors." Nucleic Acids Research 35.17 (2007): 5706-5716.
description	17.	Roig, M. "Brainstem dysgenesis: Report of five patients with congenital hypotonia, multiple cranial nerve involvement, and ocular motor apraxia." Developmental medicine and child neurology 45.7 (2003): 489-493.
description	18.	Woods, C. G B. "Two siblings with a new Aicardi-Goutieres-like syndrome." Developmental medicine and child neurology 44.6 (2002): 422-425.
description	19.	Overton, H B B. "Word length and vowel duration in apraxia of speech: the use of relative measures." Brain and Language 79.3 (2002): 397-406.
description	20.	Hirano, R. "Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?" The EMBO journal 26.22 (2007): 4732-43.