BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 38382230)

  • 1. Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
    Ilyas M; Tariq F; Ishaq R; Habiba U; Bibi F; Khan SN; Ali Y; Haider S; Efthymiou S; Abdullah U; Raja GK; Shaiq PA
    Epilepsy Res; 2024 Mar; 201():107283. PubMed ID: 38382230
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.
    Andrade DM; Paton T; Turnbull J; Marshall CR; Scherer SW; Minassian BA
    Pediatr Neurol; 2012 Sep; 47(3):205-8. PubMed ID: 22883287
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Differential diagnosis of familial adult myoclonic epilepsy.
    Baykan B; Franceschetti S; Canafoglia L; Cavalleri GL; Michelucci R; Scheffer IE
    Epilepsia; 2023 Jun; 64 Suppl 1():S52-S57. PubMed ID: 36751956
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
    Berkovic SF; Oliver KL; Canafoglia L; Krieger P; Damiano JA; Hildebrand MS; Morbin M; Vears DF; Sofia V; Giuliano L; Garavaglia B; Simonati A; Santorelli FM; Gambardella A; Labate A; Belcastro V; Castellotti B; Ozkara C; Zeman A; Rankin J; Mole SE; Aguglia U; Farrell M; Rajagopalan S; McDougall A; Brammah S; Andermann F; Andermann E; Dahl HM; Franceschetti S; Carpenter S
    Brain; 2019 Jan; 142(1):59-69. PubMed ID: 30561534
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
    Rus CM; Weissensteiner T; Pereira C; Susnea I; Danquah BD; Morales Torres G; Rocha ME; Cozma C; Saravanakumar D; Mannepalli S; Kandaswamy KK; Di Bucchianico S; Zimmermann R; Rolfs A; Bauer P; Beetz C
    Orphanet J Rare Dis; 2022 May; 17(1):179. PubMed ID: 35505348
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A Novel
    Nicolaou P; Tanteles GA; Votsi C; Zamba-Papanicolaou E; Papacostas SS; Christodoulou K; Christou YP
    Front Genet; 2021; 12():746101. PubMed ID: 34868216
    [TBL] [Abstract][Full Text] [Related]  

  • 7. First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.
    Sato R; Inui T; Endo W; Okubo Y; Takezawa Y; Anzai M; Morita H; Saitsu H; Matsumoto N; Haginoya K
    Brain Dev; 2016 Oct; 38(9):852-6. PubMed ID: 27165443
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.
    Courage C; Oliver KL; Park EJ; Cameron JM; Grabińska KA; Muona M; Canafoglia L; Gambardella A; Said E; Afawi Z; Baykan B; Brandt C; di Bonaventura C; Chew HB; Criscuolo C; Dibbens LM; Castellotti B; Riguzzi P; Labate A; Filla A; Giallonardo AT; Berecki G; Jackson CB; Joensuu T; Damiano JA; Kivity S; Korczyn A; Palotie A; Striano P; Uccellini D; Giuliano L; Andermann E; Scheffer IE; Michelucci R; Bahlo M; Franceschetti S; Sessa WC; Berkovic SF; Lehesjoki AE
    Am J Hum Genet; 2021 Apr; 108(4):722-738. PubMed ID: 33798445
    [TBL] [Abstract][Full Text] [Related]  

  • 9. KCTD7-related progressive myoclonic epilepsy: Report of 42 cases and review of literature.
    Yoganathan S; Whitney R; Thomas M; Danda S; Chettali AM; Prasad AN; Farhan SMK; AlSowat D; Abukhaled M; Aldhalaan H; Gowda VK; Kinhal UV; Bylappa AY; Konanki R; Lingappa L; Parchuri BM; Appendino JP; Scantlebury MH; Cunningham J; Hadjinicolaou A; El Achkar CM; Kamate M; Menon RN; Jose M; Riordan G; Kannan L; Jain V; Manokaran RK; Chau V; Donner EJ; Costain G; Minassian BA; Jain P
    Epilepsia; 2024 Mar; 65(3):709-724. PubMed ID: 38231304
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [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]  

  • 11. A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.
    Mizuguchi T; Suzuki T; Abe C; Umemura A; Tokunaga K; Kawai Y; Nakamura M; Nagasaki M; Kinoshita K; Okamura Y; Miyatake S; Miyake N; Matsumoto N
    J Hum Genet; 2019 May; 64(5):359-368. PubMed ID: 30760880
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
    Arsov T; Smith KR; Damiano J; Franceschetti S; Canafoglia L; Bromhead CJ; Andermann E; Vears DF; Cossette P; Rajagopalan S; McDougall A; Sofia V; Farrell M; Aguglia U; Zini A; Meletti S; Morbin M; Mullen S; Andermann F; Mole SE; Bahlo M; Berkovic SF
    Am J Hum Genet; 2011 May; 88(5):566-73. PubMed ID: 21549341
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The molecular genetic bases of the progressive myoclonus epilepsies.
    Serratosa JM; Gardiner RM; Lehesjoki AE; Pennacchio LA; Myers RM
    Adv Neurol; 1999; 79():383-98. PubMed ID: 10514828
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.
    Berrechid AG; Bendjebara M; Bouteiller D; Nasri A; Peuvion JN; Marie Y; Baulac S; Mrabet S; Ribierre T; Cazeneuve C; Imenkacem ; Leguern E; Gouider R
    Epileptic Disord; 2019 Aug; 21(4):359-365. PubMed ID: 31368437
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Neuroinflammation and progressive myoclonus epilepsies: from basic science to therapeutic opportunities.
    Sanz P; Serratosa JM
    Expert Rev Mol Med; 2020 Sep; 22():e4. PubMed ID: 32938505
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A first CLN6 variant case of late infantile neuronal ceroid lipofuscinosis caused by a homozygous mutation in a boy from China: a case report.
    Sun G; Yao F; Tian Z; Ma T; Yang Z
    BMC Med Genet; 2018 Oct; 19(1):177. PubMed ID: 30285654
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Advances in the genetics of progressive myoclonus epilepsy.
    Delgado-Escueta AV; Ganesh S; Yamakawa K
    Am J Med Genet; 2001; 106(2):129-38. PubMed ID: 11579433
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in
    Katz ML; Buckley RM; Biegen V; O'Brien DP; Johnson GC; Warren WC; Lyons LA
    G3 (Bethesda); 2020 Aug; 10(8):2741-2751. PubMed ID: 32518081
    [TBL] [Abstract][Full Text] [Related]  

  • 19. ILAE Genetics Literacy series: Progressive myoclonus epilepsies.
    Cameron JM; Ellis CA; Berkovic SF; ;
    Epileptic Disord; 2023 Oct; 25(5):670-680. PubMed ID: 37616028
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.