BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 20869730)

  • 1. Sensory neuronopathy in ataxia with oculomotor apraxia type 2.
    Gazulla J; Benavente I; López-Fraile IP; Tordesillas C; Modrego P; Alonso I; Pinto-Basto J
    J Neurol Sci; 2010 Nov; 298(1-2):118-20. PubMed ID: 20869730
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
    Anheim M; Monga B; Fleury M; Charles P; Barbot C; Salih M; Delaunoy JP; Fritsch M; Arning L; Synofzik M; Schöls L; Sequeiros J; Goizet C; Marelli C; Le Ber I; Koht J; Gazulla J; De Bleecker J; Mukhtar M; Drouot N; Ali-Pacha L; Benhassine T; Chbicheb M; M'Zahem A; Hamri A; Chabrol B; Pouget J; Murphy R; Watanabe M; Coutinho P; Tazir M; Durr A; Brice A; Tranchant C; Koenig M
    Brain; 2009 Oct; 132(Pt 10):2688-98. PubMed ID: 19696032
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2).
    Nakamura K; Yoshida K; Makishita H; Kitamura E; Hashimoto S; Ikeda S
    J Hum Genet; 2009 Dec; 54(12):746-8. PubMed ID: 19893583
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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. PubMed ID: 15732101
    [TBL] [Abstract][Full Text] [Related]  

  • 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. PubMed ID: 18625865
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients.
    Tazir M; Ali-Pacha L; M'Zahem A; Delaunoy JP; Fritsch M; Nouioua S; Benhassine T; Assami S; Grid D; Vallat JM; Hamri A; Koenig M
    J Neurol Sci; 2009 Mar; 278(1-2):77-81. PubMed ID: 19141356
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.
    Gazulla J; Benavente I; López-Fraile IP; Modrego P; Koenig M
    Muscle Nerve; 2009 Sep; 40(3):481-5. PubMed ID: 19618424
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients.
    Le Ber I; Bouslam N; Rivaud-Péchoux S; Guimarães J; Benomar A; Chamayou C; Goizet C; Moreira MC; Klur S; Yahyaoui M; Agid Y; Koenig M; Stevanin G; Brice A; Dürr A
    Brain; 2004 Apr; 127(Pt 4):759-67. PubMed ID: 14736755
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.
    Fogel BL; Perlman S
    Neurology; 2006 Dec; 67(11):2083-4. PubMed ID: 17159128
    [No Abstract]   [Full Text] [Related]  

  • 10. Hereditary sensory ataxic neuropathy associated with proximal muscle weakness in the lower extremities.
    Murakami T; Fukai Y; Rikimaru M; Henmi S; Ohsawa Y; Sunada Y
    J Neurol Sci; 2010 Apr; 291(1-2):121-3. PubMed ID: 20083254
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 15876520
    [TBL] [Abstract][Full Text] [Related]  

  • 12. N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.
    Rakocević-Stojanović V; Milić-Rasić V; Perić S; Baets J; Timmerman V; Dierick I; Pavlović S; De Jonghe P
    J Neurol Sci; 2010 Sep; 296(1-2):107-9. PubMed ID: 20598714
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Nerve conduction study, electromyography and somatosensory evoked potentials in non-Friedreich early onset cerebellar ataxia. A comparative study with Friedreich's ataxia and late onset cerebellar ataxia.
    Mondelli M; Decchi B; Parlanti S; Scarpini C; Rossi A
    Electromyogr Clin Neurophysiol; 1992; 32(4-5):207-14. PubMed ID: 1600884
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 21486904
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study.
    Criscuolo C; Chessa L; Di Giandomenico S; Mancini P; Saccà F; Grieco GS; Piane M; Barbieri F; De Michele G; Banfi S; Pierelli F; Rizzuto N; Santorelli FM; Gallosti L; Filla A; Casali C
    Neurology; 2006 Apr; 66(8):1207-10. PubMed ID: 16636238
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Ataxia with oculomotor apraxia type 2: novel mutations in six patients with juvenile age of onset and elevated serum alpha-fetoprotein.
    Bernard V; Stricker S; Kreuz F; Minnerop M; Gillessen-Kaesbach G; Zühlke C
    Neuropediatrics; 2008 Dec; 39(6):347-50. PubMed ID: 19569000
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 15996403
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Chronic hereditary ataxic polyneuropathy].
    Nogués M; Leiguarda R; Sevlever G; García H
    Medicina (B Aires); 2000; 60(3):316-20. PubMed ID: 11050807
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.
    Asaka T; Yokoji H; Ito J; Yamaguchi K; Matsushima A
    Neurology; 2006 May; 66(10):1580-1. PubMed ID: 16717225
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 14506070
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.