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 *

155 related articles for article (PubMed ID: 33772352)

  • 21. Using a combination of whole-exome sequencing and homozygosity mapping to identify a novel mutation of SCARB2.
    He M; Tang BS; Li N; Mao X; Li J; Zhang JG; Xiao JJ; Wang J; Jiang H; Shen L; Guo JF; Xia K; Wang JL
    Clin Genet; 2014 Dec; 86(6):598-600. PubMed ID: 24620919
    [No Abstract]   [Full Text] [Related]  

  • 22. A mutation in SCARB2 is a modifier in Gaucher disease.
    Velayati A; DePaolo J; Gupta N; Choi JH; Moaven N; Westbroek W; Goker-Alpan O; Goldin E; Stubblefield BK; Kolodny E; Tayebi N; Sidransky E
    Hum Mutat; 2011 Nov; 32(11):1232-8. PubMed ID: 21796727
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome.
    Balreira A; Gaspar P; Caiola D; Chaves J; Beirão I; Lima JL; Azevedo JE; Miranda MC
    Hum Mol Genet; 2008 Jul; 17(14):2238-43. PubMed ID: 18424452
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Action myoclonus-renal failure syndrome: characterization of a unique cerebro-renal disorder.
    Badhwar A; Berkovic SF; Dowling JP; Gonzales M; Narayanan S; Brodtmann A; Berzen L; Caviness J; Trenkwalder C; Winkelmann J; Rivest J; Lambert M; Hernandez-Cossio O; Carpenter S; Andermann F; Andermann E
    Brain; 2004 Oct; 127(Pt 10):2173-82. PubMed ID: 15364701
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy.
    Hallmann K; Zsurka G; Moskau-Hartmann S; Kirschner J; Korinthenberg R; Ruppert AK; Ozdemir O; Weber Y; Becker F; Lerche H; Elger CE; Thiele H; Nürnberg P; Sander T; Kunz WS
    Neurology; 2014 Dec; 83(23):2183-7. PubMed ID: 25361775
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Lysosomal integral membrane protein-2: a new player in lysosome-related pathology.
    Gonzalez A; Valeiras M; Sidransky E; Tayebi N
    Mol Genet Metab; 2014 Feb; 111(2):84-91. PubMed ID: 24389070
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia.
    Farhan SM; Murphy LM; Robinson JF; Wang J; Siu VM; Rupar CA; Prasad AN; ; Hegele RA
    Epilepsia; 2014 Sep; 55(9):e106-11. PubMed ID: 25060828
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.
    Moen MN; Fjær R; Hamdani EH; Laerdahl JK; Menchini RJ; Vigeland MD; Sheng Y; Undlien DE; Hassel B; Salih MA; El Khashab HY; Selmer KK; Chaudhry FA
    Brain; 2016 Dec; 139(Pt 12):3109-3120. PubMed ID: 27742667
    [TBL] [Abstract][Full Text] [Related]  

  • 29. A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature.
    Li Q; Liu M; Huang DP; Li T; Huang J; Jiang P; Ling WH; Chen XQ
    J Mol Neurosci; 2021 Sep; 71(9):1944-1950. PubMed ID: 34218423
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [Advances in research of SCARB2 functions and related disorders].
    He M; Liu Z; Tang B; Wang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct; 32(5):723-7. PubMed ID: 26419000
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
    Mazzola L; Oliver KL; Labalme A; Baykan B; Muona M; Joensuu TH; Courage C; Chatron N; Borsani G; Alix E; Ramond F; Touraine R; Bahlo M; Bebek N; Berkovic SF; Lehesjoki AE; Lesca G
    Ann Neurol; 2021 Feb; 89(2):402-407. PubMed ID: 33085104
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Miglustat Therapy for
    Quraishi IH; Szekely AM; Shirali AC; Mistry PK; Hirsch LJ
    Neurol Genet; 2021 Oct; 7(5):e614. PubMed ID: 34337151
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy.
    Hotait M; Dirani M; El Halabi T; Beydoun A
    Front Genet; 2020; 11():581253. PubMed ID: 33343627
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsy.
    Mei L; Huang Y; Chen J; He X; Lin S; Liao L; Wang X; Huang X; Sha Y; Ji Z; Li P
    Clin Chim Acta; 2019 Jun; 493():87-91. PubMed ID: 30825425
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Renal Pathological Findings in Action Myoclonus-Renal Failure Syndrome.
    Desbuissons G; Brocheriou I; Touchard G; Goujon JM; Méneret A; Isnard-Bagnis C
    Nephron; 2020; 144(2):55-58. PubMed ID: 31514193
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Pathogenic gene variants and clinical phenotype features of 26 children with progressive myoclonic epilepsy].
    Zhang J; Zhang YH; Chen JY; Ji TY; Yang ZX; Yang XL; Sun W; Zhang LP; Wu XR
    Zhonghua Er Ke Za Zhi; 2019 Jun; 57(6):458-464. PubMed ID: 31216804
    [No Abstract]   [Full Text] [Related]  

  • 37. Disease-causing mutations within the lysosomal integral membrane protein type 2 (LIMP-2) reveal the nature of binding to its ligand beta-glucocerebrosidase.
    Blanz J; Groth J; Zachos C; Wehling C; Saftig P; Schwake M
    Hum Mol Genet; 2010 Feb; 19(4):563-72. PubMed ID: 19933215
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Compound heterozygous
    Burke EA; Sturgeon M; Zastrow DB; Fernandez L; Prybol C; Marwaha S; Frothingham EP; Ward PA; Eng CM; Fresard L; Montgomery SB; Enns GM; Fisher PG; Wolfe LA; Harding B; Carrington B; Bishop K; Sood R; Huang Y; Elkahloun A; Toro C; Bassuk AG; Wheeler MT; Markello TC; Gahl WA; Malicdan MCV
    J Neurogenet; 2021; 35(2):74-83. PubMed ID: 33970744
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Sudden unexpected death with rare compound heterozygous variants in PRICKLE1.
    Hata Y; Yoshida K; Nishida N
    Neurogenetics; 2019 Mar; 20(1):39-43. PubMed ID: 30564977
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation.
    Desai KM; Kumar P; Ravat PS; Ravat SH; Jain N; Agrawal S; Ansari R
    Epilepsy Behav Rep; 2021; 15():100401. PubMed ID: 33458645
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.