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For: 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. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol 2020;19:908-18. [PMID: 33098801 DOI: 10.1016/S1474-4422(20)30312-4] [Cited by in Crossref: 28] [Cited by in F6Publishing: 12] [Article Influence: 14.0] [Reference Citation Analysis]
Number Citing Articles
1 Burrell AL, Kollman JM. IMPDH dysregulation in disease: a mini review. Biochem Soc Trans 2022:BST20210446. [PMID: 35191957 DOI: 10.1042/BST20210446] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 3.0] [Reference Citation Analysis]
2 Diez-Fairen M, Alvarez Jerez P, Berghausen J, Bandres-Ciga S. The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes. Int J Mol Sci 2021;22:8100. [PMID: 34360863 DOI: 10.3390/ijms22158100] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Dzinovic I, Serranová T, Prouteau C, Colin E, Ziegler A, Winkelmann J, Jech R, Zech M. Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant. Neurogenetics 2021;22:137-41. [PMID: 33677721 DOI: 10.1007/s10048-021-00637-6] [Reference Citation Analysis]
4 Gigli GL, Bax F, Marini A, Pellitteri G, Scalise A, Surcinelli A, Valente M. Guillain-Barré syndrome in the COVID-19 era: just an occasional cluster? J Neurol 2021;268:1195-7. [PMID: 32430572 DOI: 10.1007/s00415-020-09911-3] [Cited by in Crossref: 20] [Cited by in F6Publishing: 19] [Article Influence: 10.0] [Reference Citation Analysis]
5 Chang CC, Peng M, Zhong J, Zhang Z, Keppeke GD, Sung LY, Liu JL. Molecular crowding facilitates bundling of IMPDH polymers and cytoophidium formation. Cell Mol Life Sci 2022;79:420. [PMID: 35833994 DOI: 10.1007/s00018-022-04448-2] [Reference Citation Analysis]
6 Junker J, Berman BD, Hall J, Wahba DW, Brandt V, Perlmutter JS, Jankovic J, Malaty IA, Wagle Shukla A, Reich SG, Espay AJ, Duque KR, Patel N, Roze E, Vidailhet M, Jinnah HA, Brüggemann N. Quality of life in isolated dystonia: non-motor manifestations matter. J Neurol Neurosurg Psychiatry 2021:jnnp-2020-325193. [PMID: 33563813 DOI: 10.1136/jnnp-2020-325193] [Cited by in Crossref: 8] [Cited by in F6Publishing: 7] [Article Influence: 8.0] [Reference Citation Analysis]
7 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. AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism. Parkinsonism Relat Disord 2022;97:52-6. [PMID: 35306330 DOI: 10.1016/j.parkreldis.2022.03.007] [Reference Citation Analysis]
8 Chopra M, Gable DL, Love‐nichols J, Tsao A, Rockowitz S, Sliz P, Barkoudah E, Bastianelli L, Coulter D, Davidson E, Degusmao C, Fogelman D, Huth K, Marshall P, Nimec D, Sanders JS, Shore BJ, Snyder B, Stone SSD, Ubeda A, Watkins C, Berde C, Bolton J, Brownstein C, Costigan M, Ebrahimi‐fakhari D, Lai A, O'donnell‐luria A, Paciorkowski AR, Pinto A, Pugh J, Rodan L, Roe E, Swanson L, Zhang B, Kruer MC, Sahin M, Poduri A, Srivastava S. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. [DOI: 10.1002/acn3.51506] [Reference Citation Analysis]
9 Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation. Genes (Basel) 2021;12:1360. [PMID: 34573342 DOI: 10.3390/genes12091360] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 6.0] [Reference Citation Analysis]
10 Svorenova T, Romito LM, Colangelo I, Han V, Jech R, Prokisch H, Winkelmann J, Skorvanek M, Garavaglia B, Zech M. Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype. Parkinsonism & Related Disorders 2022. [DOI: 10.1016/j.parkreldis.2022.07.026] [Reference Citation Analysis]
11 Doleckova K, Roth J, Stellmachova J, Gescheidt T, Sigut V, Houska P, Jech R, Zech M, Vyhnalek M, Vyhnalkova E, Seeman P, Meszarosova AU. SPG11: clinical and genetic features of seven Czech patients and literature review. Neurological Research. [DOI: 10.1080/01616412.2021.1975224] [Reference Citation Analysis]
12 Li LX, Huang JH, Pan LZ, Zhang XL, Pan YG, Jin LJ. Whole-Exome Sequencing Identified Rare Variants in PCDHGB1 in Patients with Adult-Onset Dystonia. Mov Disord 2022. [PMID: 35229923 DOI: 10.1002/mds.28965] [Reference Citation Analysis]
13 Tan EK. Movement disorders in 2020: clinical trials, genetic discoveries, and COVID-19. Lancet Neurol 2021;20:10-2. [PMID: 33340472 DOI: 10.1016/S1474-4422(20)30448-8] [Reference Citation Analysis]
14 Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J, Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN; Undiagnosed Diseases Network., Genomics England Research Consortium. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome. Nat Genet 2021;53:1006-21. [PMID: 34211179 DOI: 10.1038/s41588-021-00886-z] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
15 Friedman JM, van Essen P, van Karnebeek CDM. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies. Mol Genet Metab 2021:S1096-7192(21)00819-2. [PMID: 34872807 DOI: 10.1016/j.ymgme.2021.11.001] [Reference Citation Analysis]
16 Zech M, Bardakjian TM, Stoklosa M, Ploski R, Jech R, Gonzalez-Alegre P, Winkelmann J. A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants. Mov Disord 2021;36:520-1. [PMID: 33211350 DOI: 10.1002/mds.28398] [Reference Citation Analysis]
17 Smit M, Albanese A, Benson M, Edwards MJ, Graessner H, Hutchinson M, Jech R, Krauss JK, Morgante F, Pérez Dueñas B, Reilly RB, Tinazzi M, Contarino MF, Tijssen MAJ; Collaborative Working Group. Dystonia Management: What to Expect From the Future? The Perspectives of Patients and Clinicians Within DystoniaNet Europe. Front Neurol 2021;12:646841. [PMID: 34149592 DOI: 10.3389/fneur.2021.646841] [Reference Citation Analysis]
18 Skorvanek M, Rektorova I, Mandemakers W, Wagner M, Steinfeld R, Orec L, Han V, Pavelekova P, Lackova A, Kulcsarova K, Ostrozovicova M, Gdovinova Z, Plecko B, Brunet T, Berutti R, Kuipers DJS, Boumeester V, Havrankova P, Tijssen MAJ, Kaiyrzhanov R, Rizig M, Houlden H, Winkelmann J, Bonifati V, Zech M, Jech R. WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. Parkinsonism Relat Disord 2021;94:54-61. [PMID: 34890876 DOI: 10.1016/j.parkreldis.2021.11.030] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
19 Kilic-Berkmen G, Wright LJ, Perlmutter JS, Comella C, Hallett M, Teller J, Pirio Richardson S, Peterson DA, Cruchaga C, Lungu C, Jinnah HA. The Dystonia Coalition: A Multicenter Network for Clinical and Translational Studies. Front Neurol 2021;12:660909. [PMID: 33897610 DOI: 10.3389/fneur.2021.660909] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
20 Kilic-Berkmen G, Defazio G, Hallett M, Berardelli A, Ferrazzano G, Belvisi D, Klein C, Bäumer T, Weissbach A, Perlmutter JS, Feuerstein J, Jinnah HA; Dystonia Coalition Investigators. Diagnosis and classification of blepharospasm: Recommendations based on empirical evidence. J Neurol Sci 2022;439:120319. [PMID: 35716653 DOI: 10.1016/j.jns.2022.120319] [Reference Citation Analysis]
21 Costamagna G, Abati E, Bresolin N, Comi GP, Corti S. Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic. J Neurol 2021;268:1580-91. [PMID: 32804279 DOI: 10.1007/s00415-020-10149-2] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
22 Indelicato E, Zech M, Amprosi M, Boesch S. Untangling neurodevelopmental disorders in the adulthood: a movement disorder is the clue. Orphanet J Rare Dis 2022;17:55. [PMID: 35172867 DOI: 10.1186/s13023-022-02218-8] [Reference Citation Analysis]
23 di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Di Lazzaro V. Classification of Dystonia. Life 2022;12:206. [DOI: 10.3390/life12020206] [Reference Citation Analysis]
24 di Biase L, Di Santo A, Caminiti ML, Pecoraro PM, Carbone SP, Di Lazzaro V. Dystonia Diagnosis: Clinical Neurophysiology and Genetics. JCM 2022;11:4184. [DOI: 10.3390/jcm11144184] [Reference Citation Analysis]
25 Park J, Reilaender A, Petry-Schmelzer JN, Stöbe P, Cordts I, Harmuth F, Rautenberg M, Woerz SE, Demidov G, Sturm M, Ossowski S, Schwaibold EMC, Wunderlich G, Paus S, Saft C, Haack TB. Transcript-Specific Loss-of-Function Variants in VPS16 Are Enriched in Patients With Dystonia. Neurol Genet 2022;8:e644. [PMID: 34901436 DOI: 10.1212/NXG.0000000000000644] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
26 Doummar D, Treven M, Qebibo L, Devos D, Ghoumid J, Ravelli C, Kranz G, Krenn M, Demailly D, Cif L, Davion JB, Zimprich F, Burglen L, Zech M. Childhood-onset progressive dystonia associated with pathogenic truncating variants in CHD8. Ann Clin Transl Neurol 2021;8:1986-90. [PMID: 34415117 DOI: 10.1002/acn3.51444] [Reference Citation Analysis]
27 Zech M, Kumar KR, Reining S, Reunert J, Tchan M, Riley LG, Drew AP, Adam RJ, Berutti R, Biskup S, Derive N, Bakhtiari S, Jin SC, Kruer MC, Bardakjian T, Gonzalez-Alegre P, Keller Sarmiento IJ, Mencacci NE, Lubbe SJ, Kurian MA, Clot F, Méneret A, de Sainte Agathe JM, Fung VSC, Vidailhet M, Baumann M, Marquardt T, Winkelmann J, Boesch S. Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement. Mov Disord 2021. [PMID: 34596301 DOI: 10.1002/mds.28804] [Reference Citation Analysis]
28 Yellajoshyula D, Rogers AE, Kim AJ, Kim S, Pappas SS, Dauer WT. A pathogenic DYT-THAP1 dystonia mutation causes hypomyelination and loss of YY1 binding. Hum Mol Genet 2021:ddab310. [PMID: 34686877 DOI: 10.1093/hmg/ddab310] [Reference Citation Analysis]
29 Balamanikandan P, Bharathi SJ. . MBE 2022;19:10060-77. [DOI: 10.3934/mbe.2022470] [Reference Citation Analysis]
30 Wadon ME, Fenner E, Kendall KM, Bailey GA, Sandor C, Rees E, Peall KJ. Clinical and genotypic analysis in determining dystonia non-motor phenotypic heterogeneity: a UK Biobank study. J Neurol 2022. [PMID: 35925398 DOI: 10.1007/s00415-022-11307-4] [Reference Citation Analysis]
31 Dzinovic I, Škorvánek M, Pavelekova P, Zhao C, Keren B, Whalen S, Bakhtiari S, Chih Jin S, Kruer MC, Jech R, Winkelmann J, Zech M. Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome. Ann Clin Transl Neurol 2021;8:951-5. [PMID: 33675180 DOI: 10.1002/acn3.51335] [Reference Citation Analysis]
32 Švantnerová J, Minár M, Radová S, Kolníková M, Vlkovič P, Zech M. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy. Neuropediatrics 2022. [PMID: 35863334 DOI: 10.1055/s-0042-1750721] [Reference Citation Analysis]
33 Reid KM, Spaull R, Salian S, Barwick K, Meyer E, Zhen J, Hirata H, Sheipouri D, Benkerroum H, Gorman KM, Papandreou A, Simpson MA, Hirano Y, Farabella I, Topf M, Grozeva D, Carss K, Smith M, Pall H, Lunt P, De Gressi S, Kamsteeg EJ, Haack TB, Carr L, Guerreiro R, Bras J, Maher ER, Scott RH, Vandenberg RJ, Raymond FL, Chong WK, Sudhakar S, Mankad K, Reith ME, Campeau PM, Harvey RJ, Kurian MA. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Mov Disord 2022. [PMID: 35876425 DOI: 10.1002/mds.29147] [Reference Citation Analysis]
34 Buey RM, Fernández‐justel D, Jiménez A, Revuelta JL. The gateway to guanine nucleotides: Allosteric regulation of IMP dehydrogenases. Protein Science 2022;31. [DOI: 10.1002/pro.4399] [Reference Citation Analysis]
35 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. Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes. Parkinsonism Relat Disord 2022;102:1-6. [PMID: 35872528 DOI: 10.1016/j.parkreldis.2022.07.003] [Reference Citation Analysis]
36 Straka I, Švantnerová J, Minár M, Stanková S, Zech M. Neurodevelopmental Gene-Related Dystonia-Parkinsonism with Onset in Adults: A Case with NAA15 Variant. Mov Disord 2022. [PMID: 35730864 DOI: 10.1002/mds.29125] [Reference Citation Analysis]
37 Fernández-Justel D, Marcos-Alcalde Í, Abascal F, Vidaña N, Gómez-Puertas P, Jiménez A, Revuelta JL, Buey RM. Diversity of mechanisms to control bacterial GTP homeostasis by the mutually exclusive binding of adenine and guanine nucleotides to IMP dehydrogenase. Protein Sci 2022;31:e4314. [PMID: 35481629 DOI: 10.1002/pro.4314] [Reference Citation Analysis]
38 van Egmond ME, Lagrand TJ, Lizaitiene G, Smit M, Tijssen MAJ. A novel diagnostic approach for patients with adult-onset dystonia. J Neurol Neurosurg Psychiatry 2022:jnnp-2021-328120. [PMID: 35688632 DOI: 10.1136/jnnp-2021-328120] [Reference Citation Analysis]
39 Wu MC, Chang YY, Lan MY, Chen YF, Tai CH, Lin YF, Tsai SF, Chen PL, Lin CH. A Clinical and Integrated Genetic Study of Isolated and Combined Dystonia in Taiwan. J Mol Diagn 2022;24:262-73. [PMID: 35041927 DOI: 10.1016/j.jmoldx.2021.12.003] [Reference Citation Analysis]
40 Yellajoshyula D, Pappas SS, Dauer WT. Oligodendrocyte and Extracellular Matrix Contributions to Central Nervous System Motor Function: Implications for Dystonia. Mov Disord 2022. [PMID: 34989453 DOI: 10.1002/mds.28892] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
41 Nan H, Shiraku H, Mizuno T, Takiyama Y. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature. BMC Neurol 2021;21:439. [PMID: 34753439 DOI: 10.1186/s12883-021-02478-0] [Reference Citation Analysis]
42 Garduño-Soto M, Choreño-Parra JA, Cazarin-Barrientos J. Dermatological aspects of SARS-CoV-2 infection: mechanisms and manifestations. Arch Dermatol Res 2021;313:611-22. [PMID: 33159236 DOI: 10.1007/s00403-020-02156-0] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 2.5] [Reference Citation Analysis]
43 Fevga C, Ferraro F, Breedveld GJ, Savant Sankhla C, Bonifati V. AOPEP Homozygous Loss-of-Function Variant in an Indian Patient With Early-Onset Generalized Dystonia. Mov Disord 2022. [PMID: 35072283 DOI: 10.1002/mds.28928] [Reference Citation Analysis]
44 Škorvánek M, Jech R, Winkelmann J, Zech M. Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation. Ann Clin Transl Neurol 2022. [PMID: 35267244 DOI: 10.1002/acn3.51538] [Reference Citation Analysis]
45 Menden B, Gutschalk A, Wunderlich G, Haack TB. Expanded Genetic Spectrum and Variable Disease Onset in AOPEP-Associated Dystonia. Mov Disord 2022;37:1113-5. [PMID: 35587627 DOI: 10.1002/mds.29021] [Reference Citation Analysis]
46 Møller LB. Crosstalk between BH4, pain, and dystonia. Eur J Hum Genet 2021;29:1727-8. [PMID: 34545211 DOI: 10.1038/s41431-021-00953-3] [Reference Citation Analysis]