Parole chiave: Adult, Amino Acid Substitution, Apraxia, Areflexia, Ataxia, Ataxia Oculomotor Apraxia Type 1, Dysarthria, Dysphagia, Electromyogram, Familial Hypercholesterolemia, Fasciculation, Gene Mutation, Genetic Analysis, Genotype Phenotype Correlation, High Performance Liquid Chromatography, Human, Hypertriglyceridemia, Letter, Motor Nerve Conduction, Nucleotide Sequence, Onset Age, Peripheral Neuropathy, Priority Journal, Protein Structure, Sequence Homology, Structure Analysis, Age Of Onset, High Pressure Liquid, Dna-Binding Proteins, Genetic Screening, Middle Aged, Models, Molecular, Neural Conduction, Neurologic Examination, Nuclear Proteins, Oculomotor Nerve Diseases,
Affiliazioni:
*** IBB - CNR *** Department of Neurological Sciences, Federico II University, Naples, Italy
Riferimenti:
Moreira, M.C., Barbot, C., Tachi, N., The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin (2001) Nat Genet, 29, pp. 189-19
Date, H., Onodera, O., Tanaka, H., Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene (2001) Nat Genet, 29, pp. 184-188
Criscuolo, C., Mancini, P., Saccà, F., Ataxia with oculomotor apraxia type 1 in southern Italy: Late onset and variable phenotype (2004) Neurology, 63, pp. 2173-2175
Amouri, R., Moreira, M.C., Zouari, M., Aprataxin gene mutations in Tunisian families (2004) Neurology, 63, pp. 928-929
Fischer, D., Barret, C., Bryson, K., CAFASP-1: Critical assessment of fully automated structure prediction methods (1999) Proteins, (3 SUPPL.), pp. 209-217
Moreira, M. C., Barbot, C., Tachi, N., The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin (2001) Nat Genet, 29, pp. 189-19
51 Records (51 escludendo Abstract e Conferenze). Impact factor totale: 196.445 (196.445 escludendo Abstract e Conferenze). Impact factor a 5 anni totale: 196.494 (196.494 escludendo Abstract e Conferenze).