BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

263 related articles for article (PubMed ID: 32220290)

  • 1. Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
    Nguyen TTM; Murakami Y; Mobilio S; Niceta M; Zampino G; Philippe C; Moutton S; Zaki MS; James KN; Musaev D; Mu W; Baranano K; Nance JR; Rosenfeld JA; Braverman N; Ciolfi A; Millan F; Person RE; Bruel AL; Thauvin-Robinet C; Ververi A; DeVile C; Male A; Efthymiou S; Maroofian R; Houlden H; Maqbool S; Rahman F; Baratang NV; Rousseau J; St-Denis A; Elrick MJ; Anselm I; Rodan LH; Tartaglia M; Gleeson J; Kinoshita T; Campeau PM
    Am J Hum Genet; 2020 Apr; 106(4):484-495. PubMed ID: 32220290
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia.
    Nguyen TTM; Murakami Y; Sheridan E; Ehresmann S; Rousseau J; St-Denis A; Chai G; Ajeawung NF; Fairbrother L; Reimschisel T; Bateman A; Berry-Kravis E; Xia F; Tardif J; Parry DA; Logan CV; Diggle C; Bennett CP; Hattingh L; Rosenfeld JA; Perry MS; Parker MJ; Le Deist F; Zaki MS; Ignatius E; Isohanni P; Lönnqvist T; Carroll CJ; Johnson CA; Gleeson JG; Kinoshita T; Campeau PM
    Am J Hum Genet; 2017 Nov; 101(5):856-865. PubMed ID: 29100095
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
    Nguyen TTM; Murakami Y; Wigby KM; Baratang NV; Rousseau J; St-Denis A; Rosenfeld JA; Laniewski SC; Jones J; Iglesias AD; Jones MC; Masser-Frye D; Scheuerle AE; Perry DL; Taft RJ; Le Deist F; Thompson M; Kinoshita T; Campeau PM
    Am J Hum Genet; 2018 Oct; 103(4):602-611. PubMed ID: 30269814
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
    Chen X; Yin W; Chen S; Zhang W; Li H; Kuang H; Zhou M; Teng Y; Zhang J; Shen G; Liang D; Li Z; Hu B; Wu L
    Hum Genet; 2021 May; 140(5):791-803. PubMed ID: 33392778
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
    Knaus A; Kortüm F; Kleefstra T; Stray-Pedersen A; Đukić D; Murakami Y; Gerstner T; van Bokhoven H; Iqbal Z; Horn D; Kinoshita T; Hempel M; Krawitz PM
    Am J Hum Genet; 2019 Aug; 105(2):395-402. PubMed ID: 31353022
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
    Makrythanasis P; Kato M; Zaki MS; Saitsu H; Nakamura K; Santoni FA; Miyatake S; Nakashima M; Issa MY; Guipponi M; Letourneau A; Logan CV; Roberts N; Parry DA; Johnson CA; Matsumoto N; Hamamy H; Sheridan E; Kinoshita T; Antonarakis SE; Murakami Y
    Am J Hum Genet; 2016 Apr; 98(4):615-26. PubMed ID: 26996948
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.
    Kohashi K; Ishiyama A; Yuasa S; Tanaka T; Miya K; Adachi Y; Sato N; Saitsu H; Ohba C; Matsumoto N; Murakami Y; Kinoshita T; Sugai K; Sasaki M
    Brain Dev; 2018 Jan; 40(1):53-57. PubMed ID: 28728837
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.
    Kawaguchi K; Yamamoto-Hino M; Murakami Y; Kinoshita T; Goto S
    Cell Struct Funct; 2021 Sep; 46(2):65-71. PubMed ID: 34193731
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Inherited GPI deficiencies:a new disease with intellectual disability and epilepsy].
    Murakami Y; Kinoshita T
    No To Hattatsu; 2015 Jan; 47(1):5-13. PubMed ID: 25803904
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
    Efthymiou S; Dutra-Clarke M; Maroofian R; Kaiyrzhanov R; Scala M; Reza Alvi J; Sultan T; Christoforou M; Tuyet Mai Nguyen T; Mankad K; Vona B; Rad A; Striano P; Salpietro V; Guillen Sacoto MJ; Zaki MS; Gleeson JG; Campeau PM; Russell BE; Houlden H
    Epilepsia; 2021 Feb; 62(2):e35-e41. PubMed ID: 33410539
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
    Ohba C; Okamoto N; Murakami Y; Suzuki Y; Tsurusaki Y; Nakashima M; Miyake N; Tanaka F; Kinoshita T; Matsumoto N; Saitsu H
    Neurogenetics; 2014 May; 15(2):85-92. PubMed ID: 24253414
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
    Tremblay-Laganière C; Kaiyrzhanov R; Maroofian R; Nguyen TTM; Salayev K; Chilton IT; Chung WK; Madden JA; Phornphutkul C; Agrawal PB; Houlden H; Campeau PM
    Clin Genet; 2021 Feb; 99(2):313-317. PubMed ID: 33156547
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3.
    Nakashima M; Kashii H; Murakami Y; Kato M; Tsurusaki Y; Miyake N; Kubota M; Kinoshita T; Saitsu H; Matsumoto N
    Neurogenetics; 2014 Aug; 15(3):193-200. PubMed ID: 24906948
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
    Murakami Y; Nguyen TTM; Baratang N; Raju PK; Knaus A; Ellard S; Jones G; Lace B; Rousseau J; Ajeawung NF; Kamei A; Minase G; Akasaka M; Araya N; Koshimizu E; van den Ende J; Erger F; Altmüller J; Krumina Z; Strautmanis J; Inashkina I; Stavusis J; El-Gharbawy A; Sebastian J; Puri RD; Kulshrestha S; Verma IC; Maier EM; Haack TB; Israni A; Baptista J; Gunning A; Rosenfeld JA; Liu P; Joosten M; Rocha ME; Hashem MO; Aldhalaan HM; Alkuraya FS; Miyatake S; Matsumoto N; Krawitz PM; Rossignol E; Kinoshita T; Campeau PM
    Am J Hum Genet; 2019 Aug; 105(2):384-394. PubMed ID: 31256876
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT.
    Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SC; Blennow E; Bergmann M; Stödberg T; Mäkitie O; Anderlid BM; Bryceson YT; Nordenskjöld M; Nordgren A
    J Med Genet; 2013 Aug; 50(8):521-8. PubMed ID: 23636107
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
    Tremblay-Laganière C; Maroofian R; Nguyen TTM; Karimiani EG; Kirmani S; Akbar F; Ibrahim S; Afroze B; Doosti M; Ashrafzadeh F; Babaei M; Efthymiou S; Christoforou M; Sultan T; Ladda RL; McLaughlin HM; Truty R; Mahida S; Cohen JS; Baranano K; Ismail FY; Patel MS; Lehman A; Edmondson AC; Nagy A; Walker MA; Mercimek-Andrews S; Maki Y; Sachdev R; Macintosh R; Palmer EE; Mancini GMS; Barakat TS; Steinfeld R; Rüsch CT; Stettner GM; Wagner M; Wortmann SB; Kini U; Brady AF; Stals KL; Ismayilova N; Ellard S; Bernardo D; Nugent K; McLean SD; Antonarakis SE; Houlden H; Kinoshita T; Campeau PM; Murakami Y
    Genet Med; 2021 Oct; 23(10):1873-1881. PubMed ID: 34113002
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.
    Davids M; Menezes M; Guo Y; McLean SD; Hakonarson H; Collins F; Worgan L; Billington CJ; Maric I; Littlejohn RO; Onyekweli T; Members Of The Udn ; Adams DR; Tifft CJ; Gahl WA; Wolfe LA; Christodoulou J; Malicdan MCV
    Mol Genet Metab; 2020 May; 130(1):49-57. PubMed ID: 32165008
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
    Bellai-Dussault K; Nguyen TTM; Baratang NV; Jimenez-Cruz DA; Campeau PM
    Clin Genet; 2019 Jan; 95(1):112-121. PubMed ID: 30054924
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
    Johnstone DL; Nguyen TT; Murakami Y; Kernohan KD; Tétreault M; Goldsmith C; Doja A; Wagner JD; Huang L; Hartley T; St-Denis A; le Deist F; Majewski J; Bulman DE; ; Kinoshita T; Dyment DA; Boycott KM; Campeau PM
    Hum Mol Genet; 2017 May; 26(9):1706-1715. PubMed ID: 28334793
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
    Nakagawa T; Taniguchi-Ikeda M; Murakami Y; Nakamura S; Motooka D; Emoto T; Satake W; Nishiyama M; Toyoshima D; Morisada N; Takada S; Tairaku S; Okamoto N; Morioka I; Kurahashi H; Toda T; Kinoshita T; Iijima K
    Am J Med Genet A; 2016 Jan; 170A(1):183-8. PubMed ID: 26419326
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.