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Items: 1 to 20 of 232

1.

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
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.

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
4.

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
5.

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
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.

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
8.

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
9.

Atypical presentation of ataxia-oculomotor apraxia type 1.

Shahwan A, Byrd PJ, Taylor AM, Nestor T, Ryan S, King MD.

Dev Med Child Neurol. 2006 Jun;48(6):529-32.

10.

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
11.

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.

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.

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
14.

Short-patch single-strand break repair in ataxia oculomotor apraxia-1.

Reynolds JJ, El-Khamisy SF, Caldecott KW.

Biochem Soc Trans. 2009 Jun;37(Pt 3):577-81. doi: 10.1042/BST0370577. Review.

PMID:
19442253
15.

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
16.

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
17.

Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.

Tsao CY, Paulson G.

J Child Neurol. 2005 Jul;20(7):619-20.

PMID:
16159533
18.

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
19.

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2.

Bernard V, Minnerop M, Bürk K, Kreuz F, Gillessen-Kaesbach G, Zühlke C.

BMC Med Genet. 2009 Sep 11;10:87. doi: 10.1186/1471-2350-10-87.

20.

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

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