BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

227 related articles for article (PubMed ID: 17646634)

  • 1. Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated families.
    Passemard S; Gelot A; Fogli A; N'Guyen S; Barnerias C; Niel F; Doummar D; Arbues AS; Mignot C; de Villemeur TB; Ponsot G; Boespflug-Tanguy O; Rodriguez D
    Neurology; 2007 Jul; 69(4):400-2. PubMed ID: 17646634
    [No Abstract]   [Full Text] [Related]  

  • 2. Hereditary leukodystrophies without identified mutations.
    Robitaille Y
    J Neurol Sci; 2005 Feb; 228(2):208-9. PubMed ID: 15694209
    [No Abstract]   [Full Text] [Related]  

  • 3. Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association.
    Sanahuja J; Franco E; Rojas-García R; Gallardo E; Combarros O; Begué R; Granés P; Illa I
    Arch Neurol; 2005 Dec; 62(12):1911-4. PubMed ID: 16344349
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.
    Labauge P; Horzinski L; Ayrignac X; Blanc P; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Sèze J; Fogli A; Boespflug-Tanguy O
    Brain; 2009 Aug; 132(Pt 8):2161-9. PubMed ID: 19625339
    [TBL] [Abstract][Full Text] [Related]  

  • 5. X-linked Charcot-Marie-Tooth disease and progressive-relapsing central demyelinating disease.
    Isoardo G; Di Vito N; Nobile M; Benetton G; Fassio F
    Neurology; 2005 Nov; 65(10):1672-3. PubMed ID: 16301507
    [No Abstract]   [Full Text] [Related]  

  • 6. TNFRSF1A R92Q mutation in association with a multiple sclerosis-like demyelinating syndrome.
    Hoffmann LA; Lohse P; König FB; Feneberg W; Hohlfeld R; Kümpfel T
    Neurology; 2008 Mar; 70(13 Pt 2):1155-6. PubMed ID: 18287568
    [No Abstract]   [Full Text] [Related]  

  • 7. Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.
    Denier C; Orgibet A; Roffi F; Jouvent E; Buhl C; Niel F; Boespflug-Tanguy O; Said G; Ducreux D
    Neurology; 2007 May; 68(18):1538-9. PubMed ID: 17470759
    [No Abstract]   [Full Text] [Related]  

  • 8. A mouse model for eukaryotic translation initiation factor 2B-leucodystrophy reveals abnormal development of brain white matter.
    Geva M; Cabilly Y; Assaf Y; Mindroul N; Marom L; Raini G; Pinchasi D; Elroy-Stein O
    Brain; 2010 Aug; 133(Pt 8):2448-61. PubMed ID: 20826436
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The ovarioleukodystrophy.
    Mathis S; Scheper GC; Baumann N; Petit E; Gil R; van der Knaap MS; Neau JP
    Clin Neurol Neurosurg; 2008 Dec; 110(10):1035-7. PubMed ID: 18678442
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.
    Erol I; Alehan F; Horvath R; Schneiderat P; Talim B
    Neuromuscul Disord; 2009 Apr; 19(4):275-8. PubMed ID: 19269823
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The spectrum of mutations for the diagnosis of vanishing white matter disease.
    Scali O; Di Perri C; Federico A
    Neurol Sci; 2006 Sep; 27(4):271-7. PubMed ID: 16998732
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Vanishing white matter disease: the first reported chinese patient.
    Wong SS; Luk DC; Wong VC; Scheper GC; van der Knaap MS
    J Child Neurol; 2008 Jun; 23(6):710-4. PubMed ID: 18539998
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel mutation in EIF2B gene in a case of adult-onset leukoencephalopathy with vanishing white matter.
    Matsui M; Mizutani K; Ohtake H; Miki Y; Ishizu K; Fukuyama H; Shimohata T; Onodera O; Nishizawa M; Takayama Y; Shibasaki H
    Eur Neurol; 2007; 57(1):57-8. PubMed ID: 17119336
    [No Abstract]   [Full Text] [Related]  

  • 14. Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene.
    Hinttala R; Karttunen V; Karttunen A; Herva R; Uusimaa J; Remes AM
    Acta Neuropathol; 2007 Nov; 114(5):543-5. PubMed ID: 17805552
    [No Abstract]   [Full Text] [Related]  

  • 15. Molecular medicine: lost in translation.
    Ainsworth C
    Nature; 2005 Jun; 435(7042):556-8. PubMed ID: 15931189
    [No Abstract]   [Full Text] [Related]  

  • 16. The large spectrum of eIF2B-related diseases.
    Fogli A; Boespflug-Tanguy O
    Biochem Soc Trans; 2006 Feb; 34(Pt 1):22-9. PubMed ID: 16246171
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dominant form of vanishing white matter-like leukoencephalopathy.
    Labauge P; Fogli A; Castelnovo G; Le Bayon A; Horzinski L; Nicoli F; Cozzone P; Pagès M; Briere C; Marty-Double C; Delhaume O; Gelot A; Boespflug-Tanguy O; Rodriguez D
    Ann Neurol; 2005 Oct; 58(4):634-9. PubMed ID: 16047349
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases].
    Carra-Dalliere C; Horzinski L; Ayrignac X; Vukusic S; Rodriguez D; Mauguiere F; Peter L; Goizet C; Bouhour F; Denier C; Confavreux C; Obadia M; Blanc F; de Seze J; Sedel F; Guennoc AM; Sartori E; Laplaud D; Antoine JC; Fogli A; Boespflug-Tanguy O; Labauge P
    Rev Neurol (Paris); 2011 Nov; 167(11):802-11. PubMed ID: 21676421
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations.
    Quijano-Roy S; Martí-Carrera I; Makri S; Mayer M; Maugenre S; Richard P; Berard C; Viollet L; Leheup B; Guicheney P; Pinard JM; Estournet B; Carlier RY
    Brain Dev; 2006 May; 28(4):232-42. PubMed ID: 16368217
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter.
    van der Knaap MS; Schiffmann R; Scheper GC
    Neuropediatrics; 2007 Oct; 38(5):264. PubMed ID: 18330844
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 12.