Novel, likely pathogenic, sequence variants in hereditary neuropathy genes

被引：0
|
作者：
Braathen, G. J. [1 ]
Tveten, K. [1 ]
Strand, L. [1 ]
Holla, O. L. [1 ]
Busk, O. L. [1 ]
Hilmarsen, H. T. [1 ]
Svendsen, M. [1 ]
Hoyer, H. [1 ]
机构：
[1] Telemark Hosp, Med Genet Sect, Dept Laboratoy Med, Skien, Norway
来源：
EUROPEAN JOURNAL OF NEUROLOGY | 2018年 / 25卷
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
EPR1119
引用
下载
收藏
页码：343 / 343
页数：1
相关论文
共 50 条
  • [1] NOVEL, LIKELY PATHOGENIC, SEQUENCE VARIANTS IN HEREDITARY NEUROPATHY GENES
    Braathen, G. J.
    Tveten, K.
    Holla, O. L.
    Busk, O. L.
    Hilmarsen, H. T.
    Svendsen, M.
    Hoyer, H.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 246 - 246
  • [2] Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants
    Peverelli, Lorenzo
    Catania, Alessia
    Marchet, Silvia
    Ciasca, Paola
    Cammarata, Gabriella
    Melzi, Lisa
    Bellino, Antonella
    Fancellu, Roberto
    Lamantea, Eleonora
    Capristo, Mariantonietta
    Caporali, Leonardo
    La Morgia, Chiara
    Carelli, Valerio
    Ghezzi, Daniele
    Bianchi Marzoli, Stefania
    Lamperti, Costanza
    FRONTIERS IN NEUROLOGY, 2021, 12
  • [3] Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population
    Faria, Ricardo
    Silva, Bruno
    Silva, Catarina
    Loureiro, Pedro
    Queiroz, Ana
    Fraga, Sofia
    Esteves, Jorge
    Mendes, Diana
    Fleming, Rita
    Vieira, Luis
    Goncalves, Joao
    Faustino, Paula
    BLOOD CELLS MOLECULES AND DISEASES, 2016, 61 : 10 - 15
  • [4] GenEye24: Novel rapid screening test for the top-3 Leber?s Hereditary Optic Neuropathy pathogenic sequence variants
    Martins, Sara
    Santos, Maria Joao
    Teixeira, Marcia
    Diogo, Luisa
    Macario, Maria do Carmo
    Marques, Joao Pedro
    Fonseca, Pedro
    Grazina, Manuela
    MITOCHONDRION, 2023, 69 : 64 - 70
  • [5] Unselected germline screening in pancreatic adenocarcinoma yields high rates of pathogenic and likely pathogenic variants (PV) in hereditary cancer susceptibility genes.
    Cremin, Carol
    Lee, Michael
    Hong, Quan
    Hoeschen, Carolyn
    Kalloger, Steve
    Karasinska, Joanna
    Mackenzie, Anna
    McCullum, Mary
    Nuk, Jennifer E.
    Topham, James Thomas
    Sun, Sophie
    Schaeffer, David F.
    Renouf, Daniel John
    Schrader, Kasmintan A.
    JOURNAL OF CLINICAL ONCOLOGY, 2019, 37 (15)
  • [6] Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases
    Zeng, Chenjie
    Bastarache, Lisa A.
    Tao, Ran
    Venner, Eric
    Hebbring, Scott
    Andujar, Justin D.
    Bland, Sarah T.
    Crosslin, David R.
    Pratap, Siddharth
    Cooley, Ayorinde
    Pacheco, Jennifer A.
    Christensen, Kurt D.
    Perez, Emma
    Zawatsky, Carrie L. Blout
    Witkowski, Leora
    Zouk, Hana
    Weng, Chunhua
    Leppig, Kathleen A.
    Sleiman, Patrick M. A.
    Hakonarson, Hakon
    Williams, Marc. S.
    Luo, Yuan
    Jarvik, Gail P.
    Green, Robert C.
    Chung, Wendy K.
    Gharavi, Ali G.
    Lennon, Niall J.
    Rehm, Heidi L.
    Gibbs, Richard A.
    Peterson, Josh F.
    Roden, Dan M.
    Wiesner, Georgia L.
    Denny, Joshua C.
    JAMA ONCOLOGY, 2022, 8 (06) : 835 - 844
  • [7] Pathogenic and Likely Pathogenic Missense Variants in Cardiovascular Disease Genes Cluster Around Functional Domains
    Ten, Nicholas S.
    Grove, Megan
    Wand, Hannah
    Ison, Hannah
    Pariani, Mitchel
    Wheeler, Matthew T.
    Ashley, Euan A.
    Parikh, Victoria N.
    CIRCULATION, 2020, 142
  • [8] Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
    Patel, Jignesh K.
    Rosen, Andrew M.
    Chamberlin, Adam
    Feldmann, Benjamin
    Antolik, Christian
    Zimmermann, Heather
    Johnston, Tami
    Narayana, Arvind
    NEUROLOGY AND THERAPY, 2022, 11 (04) : 1595 - 1607
  • [9] Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis
    Jignesh K. Patel
    Andrew M. Rosen
    Adam Chamberlin
    Benjamin Feldmann
    Christian Antolik
    Heather Zimmermann
    Tami Johnston
    Arvind Narayana
    Neurology and Therapy, 2022, 11 : 1595 - 1607
  • [10] A novel pathogenic mutation of the MPZ gene causing hereditary neuropathy
    Niermeijer, J. M. F.
    Jansweijer, M.
    van der Kooi, A.
    van Ruissen, F.
    Baas, F.
    Poll-The, B. T.
    Overweg-Plandsoen, W. C. G.
    NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 688 - 688
12345