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 *

119 related articles for article (PubMed ID: 35149262)

  • 1. Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy.
    Lee HF; Chi CS; Tsai CR
    Clin Neurol Neurosurg; 2022 Mar; 214():107142. PubMed ID: 35149262
    [TBL] [Abstract][Full Text] [Related]  

  • 2. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model.
    Lüthy K; Mei D; Fischer B; De Fusco M; Swerts J; Paesmans J; Parrini E; Lubarr N; Meijer IA; Mackenzie KM; Lee WT; Cittaro D; Aridon P; Schoovaerts N; Versées W; Verstreken P; Casari G; Guerrini R
    Brain; 2019 Aug; 142(8):2319-2335. PubMed ID: 31257402
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.
    Nakashima M; Negishi Y; Hori I; Hattori A; Saitoh S; Saitsu H
    Am J Med Genet A; 2019 Apr; 179(4):645-649. PubMed ID: 30680869
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Infantile epilepsy with multifocal myoclonus caused by TBC1D24 mutations.
    Zhang J; Chen J; Zeng Q; Zhang L; Tian X; Yang X; Yang Z; Wu Y; Wu X; Zhang Y
    Seizure; 2019 Jul; 69():228-234. PubMed ID: 31112829
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.
    Punetha J; Karaca E; Gezdirici A; Lamont RE; Pehlivan D; Marafi D; Appendino JP; Hunter JV; Akdemir ZC; Fatih JM; Jhangiani SN; Gibbs RA; Innes AM; Posey JE; Lupski JR
    Ann Clin Transl Neurol; 2019 Aug; 6(8):1395-1406. PubMed ID: 31402629
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Clinical phenotypes of TBC1D24 gene related epilepsy].
    Zhang J; Zhang YH; Chen JY; Zhang LP; Zeng Q; Tian XJ; Yang ZX; Wu Y; Yang XL; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Sep; 56(9):667-673. PubMed ID: 30180405
    [No Abstract]   [Full Text] [Related]  

  • 7. Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.
    Uzunhan TA; Uyanik B
    Clin Neurol Neurosurg; 2020 Sep; 196():106080. PubMed ID: 32663648
    [No Abstract]   [Full Text] [Related]  

  • 8. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
    Poulat AL; Ville D; de Bellescize J; André-Obadia N; Cacciagli P; Milh M; Villard L; Lesca G
    Epilepsy Res; 2015 Mar; 111():72-7. PubMed ID: 25769375
    [TBL] [Abstract][Full Text] [Related]  

  • 9. TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.
    Shao Q; Shi X; Ma B; Zeng J; Zheng A; Xie W
    Epilepsy Res; 2022 May; 182():106923. PubMed ID: 35413638
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
    Balestrini S; Milh M; Castiglioni C; Lüthy K; Finelli MJ; Verstreken P; Cardon A; Stražišar BG; Holder JL; Lesca G; Mancardi MM; Poulat AL; Repetto GM; Banka S; Bilo L; Birkeland LE; Bosch F; Brockmann K; Cross JH; Doummar D; Félix TM; Giuliano F; Hori M; Hüning I; Kayserili H; Kini U; Lees MM; Meenakshi G; Mewasingh L; Pagnamenta AT; Peluso S; Mey A; Rice GM; Rosenfeld JA; Taylor JC; Troester MM; Stanley CM; Ville D; Walkiewicz M; Falace A; Fassio A; Lemke JR; Biskup S; Tardif J; Ajeawung NF; Tolun A; Corbett M; Gecz J; Afawi Z; Howell KB; Oliver KL; Berkovic SF; Scheffer IE; de Falco FA; Oliver PL; Striano P; Zara F; Campeau PM; Sisodiya SM
    Neurology; 2016 Jul; 87(1):77-85. PubMed ID: 27281533
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy.
    Tona R; Chen W; Nakano Y; Reyes LD; Petralia RS; Wang YX; Starost MF; Wafa TT; Morell RJ; Cravedi KD; du Hoffmann J; Miyoshi T; Munasinghe JP; Fitzgerald TS; Chudasama Y; Omori K; Pierpaoli C; Banfi B; Dong L; Belyantseva IA; Friedman TB
    Hum Mol Genet; 2019 May; 28(9):1530-1547. PubMed ID: 30602030
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
    Gardella E; Møller RS
    Epilepsia; 2019 Dec; 60 Suppl 3():S77-S85. PubMed ID: 31904124
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 14. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.
    Lozano R; Herman K; Rothfuss M; Rieger H; Bayrak-Toydemir P; Aprile D; Fruscione F; Zara F; Fassio A
    Am J Med Genet A; 2016 Dec; 170(12):3207-3214. PubMed ID: 27541164
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Electroclinical phenotypes and outcomes in TBC1D24-related epilepsy.
    Appavu B; Guido-Estrada N; Lindstrom K; Grebe T; Kerrigan JF; Troester M
    Epileptic Disord; 2016 Sep; 18(3):324-8. PubMed ID: 27502353
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations.
    Stražišar BG; Neubauer D; Paro Panjan D; Writzl K
    Eur J Paediatr Neurol; 2015 Mar; 19(2):251-6. PubMed ID: 25557349
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
    Rabin R; Hirsch Y; Johansson MM; Ekstein J; Ekstein A; Pappas J
    Am J Med Genet A; 2021 May; 185(5):1589-1597. PubMed ID: 33682303
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
    Rehman AU; Santos-Cortez RL; Morell RJ; Drummond MC; Ito T; Lee K; Khan AA; Basra MA; Wasif N; Ayub M; Ali RA; Raza SI; ; Nickerson DA; Shendure J; Bamshad M; Riazuddin S; Billington N; Khan SN; Friedman PL; Griffith AJ; Ahmad W; Riazuddin S; Leal SM; Friedman TB
    Am J Hum Genet; 2014 Jan; 94(1):144-52. PubMed ID: 24387994
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
    Oziębło D; Leja ML; Lazniewski M; Sarosiak A; Tacikowska G; Kochanek K; Plewczynski D; Skarżyński H; Ołdak M
    Sci Rep; 2021 May; 11(1):10300. PubMed ID: 33986365
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Targeted gene panel sequencing in early infantile onset developmental and epileptic encephalopathy.
    Na JH; Shin S; Yang D; Kim B; Kim HD; Kim S; Lee JS; Choi JR; Lee ST; Kang HC
    Brain Dev; 2020 Jun; 42(6):438-448. PubMed ID: 32139178
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.