M. Moreira

发表

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

T. Gibson, M. Koenig, Mitsunori Watanabe, 2001, Nature Genetics.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

Hans H. Jung, C. Tilikete, M. Koenig, 2018, JAMA neurology.

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

J. Schulz, C. Shaw, L. Schöls, 2004, Nature Genetics.

Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.

M. Koenig, D. Stoppa-Lyonnet, M. Anheim, 2008, Archives of neurology.

Chapter 10 Recessive Ataxia Plus Oculomotor Apraxia Syndromes

M. Koenig, M. Moreira, 2007 .

Senataxin, the yeast Sen1p orthologue: Characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease

I. Glass, P. Chance, D. Lynch, 2006, Neurobiology of Disease.

Aprataxin gene mutations in Tunisian families

M. Koenig, M. Moreira, F. Hentati, 2004, Neurology.

Phenotypic variability of aprataxin gene mutations

J. Warter, C. Tranchant, M. Moreira, 2003, Neurology.

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

S. Tsuji, M. Pandolfo, R. Margolis, 2002, Archives of neurology.

Trinucleotide Repeats in 202 Families With Ataxia

J. Vale, J. Sequeiros, S. Tsuji, 2002 .

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies.

S. Rivaud-Pechoux, M. Koenig, A. Dürr, 2003, Brain : a journal of neurology.

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.

Y. Agid, S. Rivaud-Pechoux, M. Koenig, 2004, Brain : a journal of neurology.

The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4.

C. Brenner, P. Byrd, A. Taylor, 2004, DNA repair.

Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity.

M. Koenig, N. Tachi, P. Coutinho, 2001, American journal of human genetics.

Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings

C. Kieling, M. Saraiva-Pereira, H. Wanderley, 2006, Clinical genetics.

Ataxia with Oculomotor Apraxia Type 2

M. Koenig, M. Moreira, 2011 .

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

P. Coutinho, J. Barros, J. Sequeiros, 2001, Archives of neurology.