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 *

142 related articles for article (PubMed ID: 30827498)

  • 1. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Ahmed HMJ; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST
    Am J Hum Genet; 2019 Mar; 104(3):542-552. PubMed ID: 30827498
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Case of Congenital Hypotonia and Developmental Delay in an Individual with a
    Makarova E; Legro NR; Aliu E
    Case Rep Genet; 2023; 2023():1581876. PubMed ID: 36660549
    [TBL] [Abstract][Full Text] [Related]  

  • 3. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
    Palmer EE; Whitton C; Hashem MO; Clark RD; Ramanathan S; Starr LJ; Velasco D; De Dios JK; Singh E; Cormier-Daire V; Chopra M; Rodan LH; Nellaker C; Lakhani S; Mallack EJ; Panzer K; Sidhu A; Wentzensen IM; Lacombe D; Michaud V; Alkuraya FS
    Clin Genet; 2021 Oct; 100(4):468-477. PubMed ID: 34212383
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel variant in the HX repeat motif of ATN1 in a Chinese patient with CHEDDA syndrome and literature review.
    Luo S; Hu Y; Xiong P; Tan L; Zhao P; Huang Y; Xiao C; Zhu H; He X
    Mol Genet Genomic Med; 2022 Dec; 10(12):e2068. PubMed ID: 36251950
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ATN1-related infantile developmental and epileptic encephalopathy responding to Ketogenic diet.
    Xie Y; Su T; Liu Y; Xu S
    Seizure; 2024 Apr; 117():1-5. PubMed ID: 38262122
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
    Palmer EE; Hong S; Al Zahrani F; Hashem MO; Aleisa FA; Jalal Ahmed HM; Kandula T; Macintosh R; Minoche AE; Puttick C; Gayevskiy V; Drew AP; Cowley MJ; Dinger M; Rosenfeld JA; Xiao R; Cho MT; Yakubu SF; Henderson LB; Guillen Sacoto MJ; Begtrup A; Hamad M; Shinawi M; Andrews MV; Jones MC; Lindstrom K; Bristol RE; Kayani S; Snyder M; Villanueva MM; Schteinschnaider A; Faivre L; Thauvin C; Vitobello A; Roscioli T; Kirk EP; Bye A; Merzaban J; Jaremko Ł; Jaremko M; Sachdev RK; Alkuraya FS; Arold ST
    Am J Hum Genet; 2019 Apr; 104(4):778. PubMed ID: 30929740
    [No Abstract]   [Full Text] [Related]  

  • 7. Increased aggregation of polyleucine compared with that of polyglutamine in dentatorubral-pallidoluysian atrophy protein.
    Suzuki Y; Jin C; Yazawa I
    Neurosci Lett; 2013 Sep; 552():156-61. PubMed ID: 23933208
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathological accumulation of atrophin-1 in dentatorubralpallidoluysian atrophy.
    Suzuki Y; Yazawa I
    Int J Clin Exp Pathol; 2011 Apr; 4(4):378-84. PubMed ID: 21577324
    [TBL] [Abstract][Full Text] [Related]  

  • 9. CHEDDA syndrome: a case report and review of the literature for this newly described entity.
    Hui J; Kandemirli SG; Sato TS
    Radiol Case Rep; 2020 Sep; 15(9):1446-1449. PubMed ID: 32642015
    [No Abstract]   [Full Text] [Related]  

  • 10. Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
    Yanagisawa H; Bundo M; Miyashita T; Okamura-Oho Y; Tadokoro K; Tokunaga K; Yamada M
    Hum Mol Genet; 2000 May; 9(9):1433-42. PubMed ID: 10814707
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA analysis in hereditary dentatorubral-pallidoluysian atrophy: correlation between CAG repeat length and phenotypic variation and the molecular basis of anticipation.
    Komure O; Sano A; Nishino N; Yamauchi N; Ueno S; Kondoh K; Sano N; Takahashi M; Murayama N; Kondo I
    Neurology; 1995 Jan; 45(1):143-9. PubMed ID: 7824105
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Proteolytic processing regulates pathological accumulation in dentatorubral-pallidoluysian atrophy.
    Suzuki Y; Nakayama K; Hashimoto N; Yazawa I
    FEBS J; 2010 Dec; 277(23):4873-87. PubMed ID: 20977674
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA).
    Bidollari E; Rotundo G; Altieri F; Amicucci M; Wiquel D; Ferrari D; Goldoni M; Bernardini L; Consoli F; De Luca A; Fanelli S; Lamorte G; D'Agruma L; Vescovi AL; Squitieri F; Rosati J
    Stem Cell Res; 2019 Oct; 40():101551. PubMed ID: 31493762
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Dentatorubral-pallidoluysian atrophy: clinical features are closely related to unstable expansions of trinucleotide (CAG) repeat.
    Ikeuchi T; Koide R; Tanaka H; Onodera O; Igarashi S; Takahashi H; Kondo R; Ishikawa A; Tomoda A; Miike T
    Ann Neurol; 1995 Jun; 37(6):769-75. PubMed ID: 7778850
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy: a correlation with CAG repeat length.
    Hasegawa A; Ikeuchi T; Koike R; Matsubara N; Tsuchiya M; Nozaki H; Homma A; Idezuka J; Nishizawa M; Onodera O
    Mov Disord; 2010 Aug; 25(11):1694-700. PubMed ID: 20589872
    [TBL] [Abstract][Full Text] [Related]  

  • 16. High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy.
    Imamura A; Ito R; Tanaka S; Fukutomi O; Shimozawa N; Nishimura M; Suzuki Y; Kondo N; Yamada M; Orii T
    Neuropediatrics; 1994 Oct; 25(5):234-7. PubMed ID: 7885531
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA).
    Ueno S; Kondoh K; Kotani Y; Komure O; Kuno S; Kawai J; Hazama F; Sano A
    Hum Mol Genet; 1995 Apr; 4(4):663-6. PubMed ID: 7633415
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nuclear accumulation of truncated atrophin-1 fragments in a transgenic mouse model of DRPLA.
    Schilling G; Wood JD; Duan K; Slunt HH; Gonzales V; Yamada M; Cooper JK; Margolis RL; Jenkins NA; Copeland NG; Takahashi H; Tsuji S; Price DL; Borchelt DR; Ross CA
    Neuron; 1999 Sep; 24(1):275-86. PubMed ID: 10677044
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Dentatorubral-pallidoluysian atrophy.
    Tsuji S
    Handb Clin Neurol; 2012; 103():587-94. PubMed ID: 21827919
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 8.