174 related articles for article (PubMed ID: 35872528)
1. Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.
Dzinovic I; Boesch S; Škorvánek M; Necpál J; Švantnerová J; Pavelekova P; Havránková P; Tsoma E; Indelicato E; Runkel E; Held V; Weise D; Janzarik W; Eckenweiler M; Berweck S; Mall V; Haslinger B; Jech R; Winkelmann J; Zech M
Parkinsonism Relat Disord; 2022 Sep; 102():1-6. PubMed ID: 35872528
[TBL] [Abstract][Full Text] [Related]
2. Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
[TBL] [Abstract][Full Text] [Related]
3. Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M; Jech R; Wagner M; Mantel T; Boesch S; Nocker M; Jochim A; Berutti R; Havránková P; Fečíková A; Kemlink D; Roth J; Strom TM; Poewe W; Růžička E; Haslinger B; Winkelmann J
Neurogenetics; 2017 Dec; 18(4):195-205. PubMed ID: 28849312
[TBL] [Abstract][Full Text] [Related]
4. Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth T; Tranchant C; Drouot N; Keren B; Mignot C; Cif L; Lefaucheur R; Lion-François L; Méneret A; Gras D; Roze E; Laroche C; Burbaud P; Bannier S; Lagha-Boukbiza O; Spitz MA; Laugel V; Bereau M; Ollivier E; Nitschke P; Doummar D; Rudolf G; Anheim M; Chelly J
Parkinsonism Relat Disord; 2020 May; 74():50-56. PubMed ID: 32334381
[TBL] [Abstract][Full Text] [Related]
5. Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M; Brunet T; Škorvánek M; Blaschek A; Vill K; Hanker B; Hüning I; Haň V; Došekova P; Gdovinová Z; Alhaddad B; Berutti R; Strom TM; Růžička E; Kamsteeg EJ; van der Smagt JJ; Wagner M; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2020 Aug; 77():70-75. PubMed ID: 32629324
[TBL] [Abstract][Full Text] [Related]
6. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Powis Z; Towne MC; Hagman KDF; Blanco K; Palmaer E; Castro A; Sajan SA; Radtke K; Feyma TJ; Juliette K; Tang S; Sidiropoulos C
Clin Genet; 2020 Feb; 97(2):305-311. PubMed ID: 31628766
[TBL] [Abstract][Full Text] [Related]
7. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force.
van der Veen S; Zutt R; Klein C; Marras C; Berkovic SF; Caviness JN; Shibasaki H; de Koning TJ; Tijssen MAJ
Mov Disord; 2019 Nov; 34(11):1602-1613. PubMed ID: 31584223
[TBL] [Abstract][Full Text] [Related]
8. Genetics of dystonia.
Fuchs T; Ozelius LJ
Semin Neurol; 2011 Nov; 31(5):441-8. PubMed ID: 22266882
[TBL] [Abstract][Full Text] [Related]
9. Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.
Higuchi Y; Ando M; Kojima F; Yuan J; Hashiguchi A; Yoshimura A; Hiramatsu Y; Nozuma S; Fukumura S; Yahikozawa H; Abe E; Toyoshima I; Sugawara M; Okamoto Y; Matsuura E; Takashima H
J Neurol; 2024 Jan; 271(1):419-430. PubMed ID: 37750949
[TBL] [Abstract][Full Text] [Related]
10. Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders.
Montaut S; Tranchant C; Drouot N; Rudolf G; Guissart C; Tarabeux J; Stemmelen T; Velt A; Fourrage C; Nitschké P; Gerard B; Mandel JL; Koenig M; Chelly J; Anheim M;
JAMA Neurol; 2018 Oct; 75(10):1234-1245. PubMed ID: 29913018
[TBL] [Abstract][Full Text] [Related]
11. Genetic intersection between dystonia and neurodevelopmental disorders: Insights from genomic sequencing.
Dzinovic I; Winkelmann J; Zech M
Parkinsonism Relat Disord; 2022 Sep; 102():131-140. PubMed ID: 36088199
[TBL] [Abstract][Full Text] [Related]
12. PRKRA Mutation Causing Early-Onset Generalized Dystonia-Parkinsonism (DYT16) in an Italian Family.
Quadri M; Olgiati S; Sensi M; Gualandi F; Groppo E; Rispoli V; Graafland J; Breedveld GJ; Fabbrini G; Berardelli A; Bonifati V
Mov Disord; 2016 May; 31(5):765-7. PubMed ID: 26990861
[No Abstract] [Full Text] [Related]
13. Whole exome sequencing and clinical investigation of young onset dystonia: What can we learn?
Ahn JH; Kim AR; Park WY; Cho JW; Park J; Youn J
Parkinsonism Relat Disord; 2023 Oct; 115():105814. PubMed ID: 37607452
[TBL] [Abstract][Full Text] [Related]
14. Rare causes of dystonia parkinsonism.
Schneider SA; Bhatia KP
Curr Neurol Neurosci Rep; 2010 Nov; 10(6):431-9. PubMed ID: 20694531
[TBL] [Abstract][Full Text] [Related]
15. A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan.
Wu MC; Chang YY; Lan MY; Chen YF; Tai CH; Lin YF; Tsai SF; Chen PL; Lin CH
J Mol Diagn; 2022 Mar; 24(3):262-273. PubMed ID: 35041927
[TBL] [Abstract][Full Text] [Related]
16. Parkinsonism and dystonia: Clinical spectrum and diagnostic clues.
Morales-Briceno H; Fung VSC; Bhatia KP; Balint B
J Neurol Sci; 2022 Feb; 433():120016. PubMed ID: 34642024
[TBL] [Abstract][Full Text] [Related]
17. Clinically relevant copy-number variants in exome sequencing data of patients with dystonia.
Zech M; Boesch S; Škorvánek M; Necpál J; Švantnerová J; Wagner M; Dincer Y; Sadr-Nabavi A; Serranová T; Rektorová I; Havránková P; Ganai S; Mosejová A; Příhodová I; Šarláková J; Kulcsarová K; Ulmanová O; Bechyně K; Ostrozovičová M; Haň V; Ventosa JR; Shariati M; Shoeibi A; Weber S; Mollenhauer B; Trenkwalder C; Berutti R; Strom TM; Ceballos-Baumann A; Mall V; Haslinger B; Jech R; Winkelmann J
Parkinsonism Relat Disord; 2021 Mar; 84():129-134. PubMed ID: 33611074
[TBL] [Abstract][Full Text] [Related]
18. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.
Garavaglia B; Vallian S; Romito LM; Straccia G; Capecci M; Invernizzi F; Andrenelli E; Kazemi A; Boesch S; Kopajtich R; Olfati N; Shariati M; Shoeibi A; Sadr-Nabavi A; Prokisch H; Winkelmann J; Zech M
Parkinsonism Relat Disord; 2022 Apr; 97():52-56. PubMed ID: 35306330
[TBL] [Abstract][Full Text] [Related]
19. [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
Tian XJ; Ding CH; Zhang YH; Dai LF; Chen CH; Li JW; Wang X; Han TL; Wang XH; Deng J
Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):123-128. PubMed ID: 32102149
[No Abstract] [Full Text] [Related]
20. Combined dystonias: clinical and genetic updates.
Weissbach A; Saranza G; Domingo A
J Neural Transm (Vienna); 2021 Apr; 128(4):417-429. PubMed ID: 33099685
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
