These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 19907050)

  • 21. Expanding the genotypic spectrum of PYCR2 and a common ancestry in Thai patients with hypomyelinating leukodystrophy 10.
    Manaspon C; Boonsimma P; Phokaew C; Theerapanon T; Sriwattanapong K; Porntaveetus T; Shotelersuk V
    Am J Med Genet A; 2021 Oct; 185(10):3068-3073. PubMed ID: 34037307
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Hypomyelination with atrophy of the basal ganglia and cerebellum: follow-up and pathology.
    van der Knaap MS; Linnankivi T; Paetau A; Feigenbaum A; Wakusawa K; Haginoya K; Köhler W; Henneke M; Dinopoulos A; Grattan-Smith P; Brockmann K; Schiffmann R; Blaser S
    Neurology; 2007 Jul; 69(2):166-71. PubMed ID: 17620549
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Kif14 mutation causes severe brain malformation and hypomyelination.
    Fujikura K; Setsu T; Tanigaki K; Abe T; Kiyonari H; Terashima T; Sakisaka T
    PLoS One; 2013; 8(1):e53490. PubMed ID: 23308235
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
    Gavazzi F; Charsar BA; Williams C; Shults J; Alves CA; Adang L; Vanderver A
    J Child Neurol; 2021 Sep; 36(10):805-811. PubMed ID: 34514881
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
    Pizzino A; Whitehead M; Sabet Rasekh P; Murphy J; Helman G; Bloom M; Evans SH; Murnick JG; Conry J; Taft RJ; Simons C; Vanderver A; Adang LA
    Am J Med Genet A; 2018 Jun; 176(6):1443-1448. PubMed ID: 29696782
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Prediction of the functional effect of novel SLC25A13 variants using a S. cerevisiae model of AGC2 deficiency.
    Wongkittichote P; Tungpradabkul S; Wattanasirichaigoon D; Jensen LT
    J Inherit Metab Dis; 2013 Sep; 36(5):821-30. PubMed ID: 23053473
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Megalencephalic leukoencephalopathy with subcortical cysts in an adult.
    Joseph E; Sureka J; Gibikote S; Aaron S; Thomas MM
    Acta Neurol Belg; 2009 Mar; 109(1):53-4. PubMed ID: 19402576
    [No Abstract]   [Full Text] [Related]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. 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]  

  • 32. Autosomal dominant leukodystrophy and childhood ataxia with central nervous system hypomyelination syndrome.
    Labauge P; Gelot A; Fogli A; Boespflug-Tanguy O; Rodriguez D
    Ann Neurol; 2006 Oct; 60(4):485; author reply 485-6. PubMed ID: 16847948
    [No Abstract]   [Full Text] [Related]  

  • 33. 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]  

  • 34. The EAST syndrome and KCNJ10 mutations.
    Shi M; Zhao G
    N Engl J Med; 2009 Aug; 361(6):630; author reply 630-1. PubMed ID: 19657131
    [No Abstract]   [Full Text] [Related]  

  • 35. Magnetic resonance imaging of metabolic diseases of the cerebral white matter.
    Vargas MI; Merlini L; Haller S; Cuvinciuc V; Schroth G; Pereira VM; Lövblad KO
    Top Magn Reson Imaging; 2009 Dec; 20(6):333-41. PubMed ID: 21187726
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Clinical reasoning: cerebral cavernous malformations.
    Chahine LM; Berg MJ
    Neurology; 2009 Sep; 73(9):e44-9. PubMed ID: 19720971
    [No Abstract]   [Full Text] [Related]  

  • 38. Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination.
    Isakov O; Lev D; Blumkin L; Celniker G; Leshinsky-Silver E; Shomron N
    J Genet Genomics; 2015 Feb; 42(2):79-81. PubMed ID: 25697102
    [No Abstract]   [Full Text] [Related]  

  • 39. 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]  

  • 40. [Hypomyelination with atrophy of the basal ganglia and cerebellum. Contribution of two new cases to a recently reported entity].
    Tomás-Vila M; Menor F; Ley-Martos M; Jumillas-Luján MJ; Marco-Hernández AV; Barbero P
    Rev Neurol; 2014 Feb; 58(4):161-5. PubMed ID: 24504878
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.