Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected

被引：3
作者：
Skorvanek, Matej [1 ,2 ]
Baloghova, Janette [3 ,4 ]
Kulcsarova, Kristina [1 ,2 ]
Winkelmann, Juliane [1 ,5 ,6 ,7 ,8 ]
Jech, Robert [9 ,10 ]
Ostrozovicova, Miriam [1 ,2 ]
Zech, Michael [5 ,6 ]
机构：
[1] Safarik Univ, Dept Neurol, Kosice, Slovakia
[2] Univ Hosp L Pasteur, Dept Neurol, Kosice, Kosice, Slovakia
[3] Safarik Univ, Dept Dermatovenerol, Kosice, Slovakia
[4] Univ Hosp L Pasteur, Dept Dermatovenerol, Kosice, Slovakia
[5] Helmholtz Zentrum Munchen, Inst Neurogen, Munich, Germany
[6] Tech Univ Munich, Inst Human Genet, Sch Med, Munich, Germany
[7] Tech Univ Munich, Lehrstuhl Neurogenet, Munich, Germany
[8] Munich Cluster Syst Neurol, Munich, Germany
[9] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague, Czech Republic
[10] Gen Univ Hosp Prague, Prague, Slovakia
来源：
MOVEMENT DISORDERS | 2022年 / 37卷 / 11期
关键词：
D O I：
10.1002/mds.29245
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：2323 / 2324
页数：2
相关论文
共 5 条
  • [1] Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea
    Carre, G.
    Marelli, C.
    Anheim, M.
    Geny, C.
    Renaud, M.
    Rezvani, H. R.
    Koenig, M.
    Guissart, C.
    Tranchant, C.
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2017, 376 : 198 - 201
  • [2] Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin
    Cordts, Isabell
    Oender, Demet
    Traschuetz, Andreas
    Kobeleva, Xenia
    Karin, Ivan
    Minnerop, Martina
    Koertvelyessy, Peter
    Biskup, Saskia
    Forchhammer, Stephan
    Binder, Johannes
    Tzschach, Andreas
    Meiss, Frank
    Schmidt, Axel
    Kreiss, Martina
    Cremer, Kirsten
    Mensah, Martin A.
    Park, Joohyun
    Rautenberg, Maren
    Deininger, Natalie
    Sturm, Marc
    Lingor, Paul
    Klopstock, Thomas
    Weiler, Markus
    Marxreiter, Franz
    Synofzik, Matthis
    Posch, Christian
    Sirokay, Judith
    Klockgether, Thomas
    Haack, Tobias B.
    Deschauer, Marcus
    [J]. MOVEMENT DISORDERS, 2022, 37 (08) : 1707 - 1718
  • [3] Skin Conditions and Movement Disorders: Hiding in Plain Sight
    Kulcsarova, Kristina
    Baloghova, Janette
    Necpal, Jan
    Skorvanek, Matej
    [J]. MOVEMENT DISORDERS CLINICAL PRACTICE, 2022, 9 (05): : 566 - 583
  • [4] Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F
    Shanbhag, Niraj M.
    Geschwind, Michael D.
    DiGiovanna, John J.
    Groden, Catherine
    Godfrey, Rena
    Yousefzadeh, Matthew J.
    Wade, Erin A.
    Niedernhofer, Laura J.
    Malicdan, May Christine V.
    Kraemer, Kenneth H.
    Gahl, William A.
    Toro, Camilo
    [J]. NEUROLOGY-GENETICS, 2018, 4 (03)
  • [5] Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
    Zech, Michael
    Jech, Robert
    Boesch, Sylvia
    Skorvanek, Matej
    Necpal, Jan
    Svantnerova, Jana
    Wagner, Matias
    Sadr-Nabavi, Ariane
    Distelmaier, Felix
    Krenn, Martin
    Serranova, Tereza
    Rektorova, Irena
    Havrankova, Petra
    Mosejova, Alexandra
    Prihodova, Iva
    Sarlakova, Jana
    Kulcsarova, Kristina
    Ulmanova, Olga
    Bechyne, Karel
    Ostrozovicova, Miriam
    Han, Vladimir
    Ventosa, Joaquim Ribeiro
    Brunet, Theresa
    Berutti, Riccardo
    Shariati, Mohammad
    Shoeibi, Ali
    Schneider, Susanne A.
    Kuster, Alice
    Baumann, Matthias
    Weise, David
    Wilbert, Friederike
    Janzarik, Wibke G.
    Eckenweiler, Matthias
    Mall, Volker
    Haslinger, Bernhard
    Berweck, Steffen
    Winkelmann, Juliane
    Oexle, Konrad
    [J]. MOVEMENT DISORDERS, 2021, 36 (08) : 1959 - 1964
1