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 *

157 related articles for article (PubMed ID: 33597917)

  • 1. High Diagnostic Utility Incorporating a Targeted Neurodegeneration Gene Panel With MRI Brain Diagnostic Algorithms in Patients With Young-Onset Cognitive Impairment With Leukodystrophy.
    Chen Z; Tan YJ; Lian MM; Tandiono M; Foo JN; Lim WK; Kandiah N; Tan EK; Ng ASL
    Front Neurol; 2021; 12():631407. PubMed ID: 33597917
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
    Sassi C; Nalls MA; Ridge PG; Gibbs JR; Lupton MK; Troakes C; Lunnon K; Al-Sarraj S; Brown KS; Medway C; Lord J; Turton J; Bras J; ; Blumenau S; Thielke M; Josties C; Freyer D; Dietrich A; Hammer M; Baier M; Dirnagl U; Morgan K; Powell JF; Kauwe JS; Cruchaga C; Goate AM; Singleton AB; Guerreiro R; Hodges A; Hardy J
    Neurobiol Aging; 2018 Jun; 66():179.e17-179.e29. PubMed ID: 29544907
    [TBL] [Abstract][Full Text] [Related]  

  • 3. An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
    Ashrafi MR; Amanat M; Garshasbi M; Kameli R; Nilipour Y; Heidari M; Rezaei Z; Tavasoli AR
    Expert Rev Neurother; 2020 Jan; 20(1):65-84. PubMed ID: 31829048
    [No Abstract]   [Full Text] [Related]  

  • 4. Targeted next generation sequencing identifies novel NOTCH3 gene mutations in CADASIL diagnostics patients.
    Maksemous N; Smith RA; Haupt LM; Griffiths LR
    Hum Genomics; 2016 Nov; 10(1):38. PubMed ID: 27881154
    [TBL] [Abstract][Full Text] [Related]  

  • 5.
    Lee YC; Chung CP; Chang MH; Wang SJ; Liao YC
    Neurology; 2020 Jan; 94(1):e87-e96. PubMed ID: 31792094
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease.
    Di Donato I; Bianchi S; Gallus GN; Cerase A; Taglia I; Pescini F; Nannucci S; Battisti C; Inzitari D; Pantoni L; Zini A; Federico A; Dotti MT
    CNS Neurosci Ther; 2017 Sep; 23(9):759-765. PubMed ID: 28782182
    [TBL] [Abstract][Full Text] [Related]  

  • 7. How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.
    Tan RYY; Traylor M; Megy K; Duarte D; Deevi SVV; Shamardina O; Mapeta RP; ; Ouwehand WH; Gräf S; Downes K; Markus HS
    Neurology; 2019 Nov; 93(22):e2007-e2020. PubMed ID: 31719132
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Leukodystrophies and Genetic Leukoencephalopathies in Children Specified by Exome Sequencing in an Expanded Gene Panel.
    Parayil Sankaran B; Nagappa M; Chiplunkar S; Kothari S; Govindaraj P; Sinha S; Taly AB
    J Child Neurol; 2020 Jun; 35(7):433-441. PubMed ID: 32180488
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation.
    Konno T; Yoshida K; Mizuta I; Mizuno T; Kawarai T; Tada M; Nozaki H; Ikeda SI; Onodera O; Wszolek ZK; Ikeuchi T
    Eur J Neurol; 2018 Jan; 25(1):142-147. PubMed ID: 28921817
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Utility of genetic testing in children with leukodystrophy.
    Zerem A; Libzon S; Ben Sira L; Meirson H; Hausman-Kedem M; Haviv N; Yosovich K; Mory A; Baris Feldman H; Lev D; Lerman-Sagie T; Fattal-Valevski A; Hacohen Y; Marom D
    Eur J Paediatr Neurol; 2023 Jul; 45():29-35. PubMed ID: 37267771
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and genetic characterization of leukoencephalopathies in adults.
    Lynch DS; Rodrigues Brandão de Paiva A; Zhang WJ; Bugiardini E; Freua F; Tavares Lucato L; Macedo-Souza LI; Lakshmanan R; Kinsella JA; Merwick A; Rossor AM; Bajaj N; Herron B; McMonagle P; Morrison PJ; Hughes D; Pittman A; Laurà M; Reilly MM; Warren JD; Mummery CJ; Schott JM; Adams M; Fox NC; Murphy E; Davagnanam I; Kok F; Chataway J; Houlden H
    Brain; 2017 May; 140(5):1204-1211. PubMed ID: 28334938
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel autosomal dominant leukodystrophy with specific MRI pattern.
    Corlobé A; Taithe F; Clavelou P; Pierre E; Carra-Dallière C; Ayrignac X; Mouzat K; Lumbroso S; Menjot de Champfleur N; Koenig M; Boespflug-Tanguy O; Labauge P
    J Neurol; 2015; 262(4):988-91. PubMed ID: 25683759
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cysteine-Altering
    Hack RJ; Rutten JW; Person TN; Li J; Khan A; Griessenauer CJ; ; Abedi V; Lesnik Oberstein SAJ; Zand R
    Stroke; 2020 Dec; 51(12):3562-3569. PubMed ID: 33161844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Vascular leukoencephalopathy in patients without vascular risk factor or NOTCH3 mutation: clinical and radiological findings].
    Ayrignac X; Magnin E; Wallon D; Guennoc AM; Lebrun-Fresnay C; Labauge P
    Rev Neurol (Paris); 2013 Feb; 169(2):136-41. PubMed ID: 23394849
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.
    Soong BW; Liao YC; Tu PH; Tsai PC; Lee IH; Chung CP; Lee YC
    J Chin Med Assoc; 2013 Jun; 76(6):319-24. PubMed ID: 23602593
    [TBL] [Abstract][Full Text] [Related]  

  • 16. NOTCH3 variants in patients with subcortical vascular cognitive impairment: a comparison with typical CADASIL patients.
    Yoon CW; Kim YE; Seo SW; Ki CS; Choi SH; Kim JW; Na DL
    Neurobiol Aging; 2015 Aug; 36(8):2443.e1-7. PubMed ID: 26002683
    [TBL] [Abstract][Full Text] [Related]  

  • 17. AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases.
    Taglia I; Di Donato I; Bianchi S; Cerase A; Monti L; Marconi R; Orrico A; Rufa A; Federico A; Dotti MT
    Acta Neurol Scand; 2018 Oct; 138(4):278-283. PubMed ID: 29749055
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
    Xie JJ; Ni W; Wei Q; Ma H; Bai G; Shen Y; Wu ZY
    CNS Neurosci Ther; 2020 May; 26(5):567-575. PubMed ID: 31885218
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A Next-Generation Sequencing of the NOTCH3 and HTRA1 Genes in CADASIL Patients.
    Fernández A; Gómez J; Alonso B; Iglesias S; Coto E
    J Mol Neurosci; 2015 Jul; 56(3):613-6. PubMed ID: 25929831
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
    Wu C; Wang M; Wang X; Li W; Li S; Chen B; Niu S; Tai H; Pan H; Zhang Z
    Brain; 2023 Jun; 146(6):2364-2376. PubMed ID: 36380532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.