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Items: 1 to 20 of 222

1.

Early-onset ataxia with oculomotor apraxia with a novel APTX mutation.

Ito A, Yamagata T, Mori M, Momoi MY.

Pediatr Neurol. 2005 Jul;33(1):53-6.

PMID:
15876520
2.

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B, Mariotti C, Rimoldi M, Fancellu R, Plumari M, Caimi S, Uziel G, Nardocci N, Moroni I, Zorzi G, Pareyson D, Di Bella D, Di Donato S, Taroni F, Gellera C.

Neurogenetics. 2011 Aug;12(3):193-201. doi: 10.1007/s10048-011-0281-x. Epub 2011 Apr 5.

PMID:
21465257
3.

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

Anheim M, Fleury MC, Franques J, Moreira MC, Delaunoy JP, Stoppa-Lyonnet D, Koenig M, Tranchant C.

Arch Neurol. 2008 Jul;65(7):958-62. doi: 10.1001/archneur.65.7.958.

PMID:
18625865
4.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene.

Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, Igarashi S, Koike R, Hiroi T, Yuasa T, Awaya Y, Sakai T, Takahashi T, Nagatomo H, Sekijima Y, Kawachi I, Takiyama Y, Nishizawa M, Fukuhara N, Saito K, Sugano S, Tsuji S.

Nat Genet. 2001 Oct;29(2):184-8.

PMID:
11586299
5.

Muscle coenzyme Q10 deficiencies in ataxia with oculomotor apraxia 1.

Le Ber I, Dubourg O, Benoist JF, Jardel C, Mochel F, Koenig M, Brice A, Lombès A, Dürr A.

Neurology. 2007 Jan 23;68(4):295-7.

PMID:
17242337
6.

Familial cognitive impairment with ataxia with oculomotor apraxia.

Mahajnah M, Basel-Vanagaite L, Inbar D, Kornreich L, Weitz R, Straussberg R.

J Child Neurol. 2005 Jun;20(6):523-5.

PMID:
15996403
7.

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

Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonça P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M.

Nat Genet. 2001 Oct;29(2):189-93.

PMID:
11586300
8.

Aprataxin gene mutations in Tunisian families.

Amouri R, Moreira MC, Zouari M, El Euch G, Barhoumi C, Kefi M, Belal S, Koenig M, Hentati F.

Neurology. 2004 Sep 14;63(5):928-9.

PMID:
15365154
9.

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

Le Ber I, Moreira MC, Rivaud-Péchoux S, Chamayou C, Ochsner F, Kuntzer T, Tardieu M, Saïd G, Habert MO, Demarquay G, Tannier C, Beis JM, Brice A, Koenig M, Dürr A.

Brain. 2003 Dec;126(Pt 12):2761-72. Epub 2003 Sep 23.

PMID:
14506070
10.

Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia.

Hirano M, Nishiwaki T, Kariya S, Furiya Y, Kawahara M, Ueno S.

Neurosci Lett. 2004 Aug 12;366(2):120-5.

PMID:
15276230
11.

Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosis.

D'Arrigo S, Riva D, Bulgheroni S, Chiapparini L, Castellotti B, Gellera C, Pantaleoni C.

J Child Neurol. 2008 Aug;23(8):895-900. doi: 10.1177/0883073808314959. Epub 2008 Apr 10.

PMID:
18403580
12.

[Autosomal recessive cerebellar ataxias with oculomotor apraxia].

Le Ber I, Rivaud-Péchoux S, Brice A, Dürr A.

Rev Neurol (Paris). 2006 Feb;162(2):177-84. Review. French.

PMID:
16518257
13.

Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Fogel BL, Perlman S.

Neurology. 2006 Dec 12;67(11):2083-4. No abstract available.

PMID:
17159128
14.

Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy.

Duquette A, Roddier K, McNabb-Baltar J, Gosselin I, St-Denis A, Dicaire MJ, Loisel L, Labuda D, Marchand L, Mathieu J, Bouchard JP, Brais B.

Ann Neurol. 2005 Mar;57(3):408-14.

PMID:
15732101
15.

Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminaemia.

Yokoseki A, Ishihara T, Koyama A, Shiga A, Yamada M, Suzuki C, Sekijima Y, Maruta K, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O.

Brain. 2011 May;134(Pt 5):1387-99. doi: 10.1093/brain/awr069. Epub 2011 Apr 12.

PMID:
21486904
16.

Ataxia with oculomotor apraxia.

Liu W, Narayanan V.

Semin Pediatr Neurol. 2008 Dec;15(4):216-20. doi: 10.1016/j.spen.2008.10.014.

PMID:
19073331
17.

Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia.

Bohlega SA, Shinwari JM, Al Sharif LJ, Khalil DS, Alkhairallah TS, Al Tassan NA.

BMC Med Genet. 2011 Feb 16;12:27. doi: 10.1186/1471-2350-12-27.

18.

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations.

Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M.

Neurology. 2002 Aug 27;59(4):590-5.

PMID:
12196655
19.

Phenotypic variability of aprataxin gene mutations.

Tranchant C, Fleury M, Moreira MC, Koenig M, Warter JM.

Neurology. 2003 Mar 11;60(5):868-70.

PMID:
12629250
20.

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit.

Yoon G, Westmacott R, MacMillan L, Quercia N, Koutsou P, Georghiou A, Christodoulou K, Banwell B.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):234-6. doi: 10.1136/jnnp.2007.127233. No abstract available.

PMID:
18202221

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