Al-Saady ML, Kaiser CS, Wakasuqui F, Korenke GC, Waisfisz Q, Polstra A, Pouwels PJW, Bugiani M, van der Knaap MS, Lunsing RJ, Liebau E, Wolf NI (2021). Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy. Neuropediatrics. Dec;52(6):489-494. doi: 10.1055/s-0041-1724130. Epub 2021 Apr 14. PMID: 33853163.
Afonso Ribeiro J, Simeoni S, De Min L, UchiyamaT, Tung Lo Y, Solanky N, Garcia-Moreno H, Giunti P & Panicker JN (2021) Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.Ann Clin Transl Neurol 8(2):321-331. doi: 10.1002/acn3.51266
Benussi A, Premi E, Gazzina S, Brattini C, Bonomi E, Alberici A, Jiskoot L, van Swieten JC, Sanchez-Valle R, Moreno F, Laforce R, Graff C, Synofzik M, Galimberti D, Masellis M, Tartaglia C, Rowe JB, Finger E, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler CR, Gerhard A, Levin J, Danek A, Otto M, Frisoni G, Ghidoni R, Sorbi S, Le Ber I, Pasquier F, Peakman G, Todd E, Bocchetta M, Rohrer JD, Borroni B; Genetic FTD Initiative (GENFI) (2021). Progression of Behavioral Disturbances and Neuropsychiatric Symptoms in Patients With Genetic Frontotemporal Dementia. JAMA Netw Open. Jan;4(1):e2030194. doi: 10.1001/jamanetworkopen.2020.30194. Erratum in: JAMA Netw Open. 2021 Mar 1;4(3):e217664. PMID: 33404617; PMCID: PMC7788468.
Beerepoot S, Heijst H, Roos B, Wamelink MMC, Boelens JJ, Lindemans CA, van Hasselt PM, Jacobs EH, van der Knaap MS, Teunissen CE & Wolf NI (2021) Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy. Brain awab304. doi: 10.1093/brain/awab304
Bocchetta M, Todd EG, Peakman G, Cash DM, Convery RS, Russell LL, Thomas DL, Eugenio Iglesias J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Galimberti D, Sanchez-Valle R, Laforce R, Moreno F, Synofzik M, Graff C, Masellis M, Carmela Tartaglia M, Rowe JB, Vandenberghe R, Finger E, Tagliavini F, de Mendonça A, Santana I, Butler CR, Ducharme S, Gerhard A, Danek A, Levin J, Otto M, Sorbi S, Le Ber I, Pasquier F, Rohrer JD; Genetic Frontotemporal dementia Initiative (GENFI) (2021). Differential early subcortical involvement in genetic FTD within the GENFI cohort. Neuroimage Clin. 30:102646. doi: 10.1016/j.nicl.2021.102646. Epub 2021 Mar 29. PMID: 33895632; PMCID: PMC8099608.
Brandsma R, van Egmond ME, Tijssen MAJ; Groningen Movement Disorder Expertise Centre (2021). Diagnostic approach to paediatric movement disorders: a clinical practice guide. Dev Med Child Neurol. Mar;63(3):252-258. doi: 10.1111/dmcn.14721. Epub 2020 Nov 5. PMID: 33150968; PMCID: PMC7894329.
Cámara A, Compta Y, Pérez-Soriano A, Montagut N, Baixauli M, Maragall L, Ludeña E, Lopez de Los Reyes JC, Peri-Cusi L, Fernández N, Villote S, Ahuir M, Grau A, Caballol N, Buongiorno M, Pont-Sunyer C, Puente V, Giraldo DM, de Fabregues O, Garrido A, Navarro-Otano J, Painous C, Sánchez-Gómez A, Muñoz E, Zaro I, Obiang D, Valldeoriola F, Lombraña M, Martí MJ (2021). Effects of COVID -19 pandemic and lockdown on people with multiple system atrophy participating in a therapeutic education program. Parkinsonism Relat Disord. May;86:78-80. doi: 10.1016/j.parkreldis.2021.03.021. Epub 2021 Mar 29. PMID: 33873000; PMCID: PMC8007182.
Centen LM, Oterdoom DLM, Tijssen MAJ, Lesman-Leegte I, van Egmond ME, van Dijk JMC (2021). Bilateral Pallidotomy for Dystonia: A Systematic Review. Mov Disord. Mar;36(3):547-557. doi: 10.1002/mds.28384. Epub 2020 Nov 20. PMID: 33215750; PMCID: PMC8048649.
Cong Y, So V, Tijssen MAJ, Verbeek DS, Reggiori F, Mauthe M (2021). WDR45, one gene associated with multiple neurodevelopmental disorders. Autophagy. Dec;17(12):3908-3923. doi: 10.1080/15548627.2021.1899669. Epub 2021 Apr 12. PMID: 33843443; PMCID: PMC8726670.
Csaban D, Pentelenyi K, Toth-Bencsik R, Illes A, Grosz Z, Gezsi A, Molnar MJ (2021). The Role of the Rare Variants in the Genes Encoding the Alpha-Ketoglutarate Dehydrogenase in Alzheimer’s Disease. Life (Basel). Apr;11(4):321. doi: 10.3390/life11040321. PMID: 33917565; PMCID: PMC8067443.
Dankova M, Jerabek J, Jester DJ, Zumrova A, Paulasova Schwabova J, Cerny R, Kmetonyova S, Vyhnalek M (2021). Clinical dynamic visual acuity in patients with cerebellar ataxia and vestibulopathy. PLoS One. Jul;16(7):e0255299. doi: 10.1371/journal.pone.0255299. PMID: 34324564; PMCID: PMC8320895.
Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB (2021). Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain. Mar;144(2):574-583. doi: 10.1093/brain/awaa418. PMID: 33459760.
Djordjevic D, Pinard M, Gauthier MS, Smith-Hicks C, Hoffman TL, Wolf NI, Oegema R, van Binsbergen E, Baskin B, Bernard G, Fribourg S, Coulombe B, Yoon G (2021). De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy. Am J Hum Genet. Jan;108(1):186-193. doi: 10.1016/j.ajhg.2020.12.002. PMID: 33417887; PMCID: PMC7820722.
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T (2021). Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3. Mov Disord. Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5. PMID: 33951232.
Filla A, Houlden H, Anheim M, Infante J, Basak AN, Synofzik M; RFC1 Study Group (2021). Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease. Neurology. Mar;96(9):e1369-e1382. doi: 10.1212/WNL.0000000000011528. Epub 2021 Jan 25. PMID: 33495376; PMCID: PMC8055326.
Gal A, Grosz Z, Borsos B, Szatmari I, Sebők A, Jávor L, Harmath V, Szakszon K, Dezsi L, Balku E, Jobbagy Z, Herczegfalvi A, Almássy Z, Kerényi L, Molnar MJ (2021). Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease. Life (Basel). May;11(6):507. doi: 10.3390/life11060507. PMID: 34072668; PMCID: PMC8228169.
Gannamani R, van der Veen S, van Egmond M, de Koning TJ, Tijssen MAJ (2021). Challenges in Clinicogenetic Correlations: One Phenotype – Many Genes. Mov Disord Clin Pract. Mar;8(3):311-321. doi: 10.1002/mdc3.13163. PMID: 33816658; PMCID: PMC8015914.
Giacomini T, Nuovo S, Zanni G, Mancardi MM, Cusmai R, Pepi C, Bertini E, Valente EM, Battini R, Ferrari A, Romaniello R, Zucca C, Borgatti R, Uccella S, Severino M, Striano P, Pistorio A, Prato G, de Grandis E, Nobili L, Pisciotta L (2021). CASK related disorder: Epilepsy and developmental outcome. Eur J Paediatr Neurol. Mar;31:61-69. doi: 10.1016/j.ejpn.2021.02.006. Epub 2021 Feb 19. PMID: 33640666.
Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O’Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z (2021). DLG4-related synaptopathy: a new rare brain disorder. Genet Med. May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. PMID: 33597769.
Graessner H, Albanese A & Schöls L (2021) Editorial: Networks in Movement Disorders. To Move or Not to Move. Front. Neurol. 12:1816-1819. doi: 10.3389/fneur.2021.758246
Grobe-Einsler M, Taheri Amin A, Faber J, Schaprian T, Jacobi H, Schmitz-Hübsch T, Diallo A, Tezenas du Montcel S & Klockgether T (2021) Development of SARAhome, a New Video-Based Tool for the Assessment of Ataxia at Home. Mov Disord, 36(5):1242-1246. doi: 10.1002/mds.28478
Guasp M, Molina-Porcel L, Painous C, Caballol N, Camara A, Perez-Soriano A, Sánchez-Gómez A, Garrido A, Muñoz E, Marti MJ, Valldeoriola F, Grau O, Gelpí E, Respondek G, Höglinger GH, Compta Y (2021). Association of PSP phenotypes with survival: A brain-bank study. Parkinsonism Relat Disord. Mar;84:77-81. doi: 10.1016/j.parkreldis.2021.01.015. Epub 2021 Feb 2. PMID: 33581485.
Hengel H, Hannan SB, Dyack S, MacKay SB, Schatz U, Fleger M, Kurringer A, Balousha G, Ghanim Z, Alkuraya FS, Alzaidan H, Alsaif HS, Mitani T, Bozdogan S, Pehlivan D, Lupski JR, Gleeson JJ, Dehghani M, Mehrjardi MYV, Sherr EH, Parks KC, Argilli E, Begtrup A, Galehdari H, Balousha O, Shariati G, Mazaheri N, Malamiri RA, Pagnamenta AT, Kingston H, Banka S, Jackson A, Osmond M; Care4Rare Canada Consortium; Genomics England Research Consortium, Rieß A, Haack TB, Nägele T, Schuster S, Hauser S, Admard J, Casadei N, Velic A, Macek B, Ossowski S, Houlden H, Maroofian R, Schöls L (2021). Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. Am J Hum Genet. Jun;108(6):1069-1082. doi: 10.1016/j.ajhg.2021.04.024. Epub 2021 May 21. PMID: 34022130; PMCID: PMC8206390.
Herzog R, Hellenbroich Y, Brüggemann N, Lohmann K, Grimmel M, Haack TB, von Spiczak S, Münchau A (2021). Zonisamide-responsive myoclonus in SEMA6B-associated progressive myoclonic epilepsy. Ann Clin Transl Neurol. Jul;8(7):1524-1527. doi: 10.1002/acn3.51403. Epub 2021 Jun 6. PMID: 34092044; PMCID: PMC8283161.
Herzog R, Weissbach A, Bäumer T, Münchau A (2021). Complex dystonias: an update on diagnosis and care. J Neural Transm (Vienna). Apr;128(4):431-445. doi: 10.1007/s00702-020-02275-y. Epub 2020 Nov 13. PMID: 33185802; PMCID: PMC8099829.
Höflinger P, Hauser S, Yutuc E, Hengel H, Griffiths L, Radelfahr F, Howell OW, Wang Y, Connor SL, Duell PB, DeBarber AE, Martus P, Lütjohann D, Griffiths WJ, Schöls L (2021). Metabolic profiling in serum, cerebrospinal fluid, and brain of patients with cerebrotendinous xanthomatosis. J Lipid Res. 62:100078. doi: 10.1016/j.jlr.2021.100078. Epub 2021 Apr 20. PMID: 33891937; PMCID: PMC8135047.
Iankova V, Karin I, Klopstock T, Schneider SA (2021). Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders. Front Neurol. Apr;12:629414. doi: 10.3389/fneur.2021.629414. PMID: 33935938; PMCID: PMC8082061.
Karin I, Büchner B, Gauzy F, Klucken A, Klopstock T (2021). Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)-An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA). Front Neurol. Feb;12:642228. doi: 10.3389/fneur.2021.642228. PMID: 33692746; PMCID: PMC7937633.
Kehrer C, Elgün S, Raabe C, Böhringer J, Beck-Wödl S, Bevot A, Kaiser N, Schöls L, Krägeloh-Mann I, Groeschel S (2021). Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy. Neurology. Jan;96(2):e255-e266. doi: 10.1212/WNL.0000000000011047. Epub 2020 Oct 12. PMID: 33046606.
Kerstens HCJW, van Lith BJH, Nijkrake MJ, de Swart BJM, van den Bemd LAC, Smeets RJEM, Klemens F, van de Warrenburg BPC, van der Wees PJ, Geurts ACH (2021). Healthcare needs, expectations, utilization, and experienced treatment effects in patients with hereditary spastic paraplegia: a web-based survey in the Netherlands. Orphanet J Rare Dis. Jun;16(1):283. doi: 10.1186/s13023-021-01915-0. PMID: 34167574; PMCID: PMC8223283.
Kessler C, Serna-Higuita LM, Rattay TW, Maetzler W, Wurster I, Hayer S, Wilke C, Hengel H, Reichbauer J, Armbruster M, Schöls L, Martus P, Schüle R (2021). Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia. Ann Clin Transl Neurol. May;8(5):1122-1131. doi: 10.1002/acn3.51358. Epub 2021 Apr 5. PMID: 33819388; PMCID: PMC8108414.
Klopstock T, Videnovic A, Bischoff AT, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar ML, Fraser JL, Gonzalez V, Hermanowicz N, Jech R, Jinnah HA, Kmiec T, Lang A, Martí MJ, Mercimek-Andrews S, Monduy M, Nimmo GAM, Perez-Dueñas B, Pfeiffer HCV, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F (2021). Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. Jun;36(6):1342-1352. doi: 10.1002/mds.28392. Epub 2020 Nov 16. PMID: 33200489; PMCID: PMC8246547.
Koens LH, de Vries JJ, Vansenne F, de Koning TJ, Tijssen MAJ (2021). How to detect late-onset inborn errors of metabolism in patients with movement disorders – A modern diagnostic approach. Parkinsonism Relat Disord. Apr;85:124-132. doi: 10.1016/j.parkreldis.2021.02.029. Epub 2021 Mar 2. PMID: 33745796.
Loens S, Verrel J, Herrmann VM, Kienzle A, Tzvi E, Weissbach A, Junker J, Münchau A, Bäumer T (2021). Motor learning deficits in cervical dystonia point to defective basal ganglia circuitry. Sci Rep. Apr;11(1):7332. doi: 10.1038/s41598-021-86513-7. PMID: 33795752; PMCID: PMC8016965.
Matalonga L, Hernández-Ferrer C, Piscia D; Solve-RD SNV-indel working group, Schüle R, Synofzik M, Töpf A, Vissers LELM, de Voer R; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-euroNMD; Solve-RD DITF-RND, Tonda R, Laurie S, Fernandez-Callejo M, Picó D, Garcia-Linares C, Papakonstantinou A, Corvó A, Joshi R, Diez H, Gut I, Hoischen A, Graessner H, Beltran S; Solve-RD Consortia (2021). Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur J Hum Genet. Sep;29(9):1337-1347. doi: 10.1038/s41431-021-00852-7. Epub 2021 Jun 1. Erratum in: Eur J Hum Genet. 2021 Aug 16;: PMID: 34075210; PMCID: PMC8440686.
Méreaux JL, Firanescu C, Coarelli G, Kvarnung M, Rodrigues R, Pegoraro E, Tazir M, Taithe F, Valter R, Huin V, Lidström K, Banneau G, Morais S, Parodi L, Coutelier M, Papin M, Svenningsson P, Azulay JP, Alonso I, Nilsson D, Brice A, Le Guern E, Press R, Vazza G, Loureiro JL, Goizet C, Durr A, Paucar M, Stevanin G (2021). Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations. Neurogenetics. Mar;22(1):71-79. doi: 10.1007/s10048-020-00633-2. Epub 2021 Jan 23. PMID: 33486633; PMCID: PMC7997841.
Mühlbäck A, Frank W, Klempířová O, Bezdíček O, Schmitt L, Hofstetter N, Landwehrmeyer GB, Klempíř J (2021). Validation Study of a German Cognitive Battery for Huntington’s Disease: Relationship Between Cognitive Performance, Functional Decline, and Disease Burden. Arch Clin Neuropsychol. Jan;36(1):74-86. doi: 10.1093/arclin/acaa038. PMID: 32613239; PMCID: PMC7809684.
Nonnekes J, Geurts A (2021). Letter to the Editor: Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia-The SPASTOX Trial. Mov Disord. Jul;36(7):1733. doi: 10.1002/mds.28659. PMID: 34302383; PMCID: PMC8361968.
Nonnekes J, Keijsers N, Witteveen A, Geurts A (2021). Improved Gait Capacity after Bilateral Achilles Tendon Lengthening for Irreducible Pes Equinus Due to Hereditary Spastic Paraplegia: a Case Report. J Rehabil Med Clin Commun. May;4:1000059. doi: 10.2340/20030711-1000059. PMID: 34276903; PMCID: PMC8192886.
Nuovo S, Micalizzi A, Romaniello R, Arrigoni F, Ginevrino M, Casella A, Serpieri V, D’Arrigo S, Briguglio M, Salerno GG, Rossato S, Sartori S, Leuzzi V, Battini R, Ben-Zeev B, Graziano C, Mirabelli Badenier M, Brankovic V, Nardocci N, Spiegel R, Petković Ramadža D, Vento G, Marti I, Simonati A, Dipresa S, Freri E, Mazza T, Bassi MT, Bosco L, Travaglini L, Zanni G, Bertini ES, Vanacore N, Borgatti R, Valente EM (2021). Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. J Med Genet. Mar:jmedgenet-2020-107497. doi: 10.1136/jmedgenet-2020-107497. Epub ahead of print. PMID: 34085948.
Palma JA, Vernetti PM, Perez MA, Krismer F, Seppi K, Fanciulli A, Singer W, Low P, Biaggioni I, Norcliffe-Kaufmann L, Pellecchia MT, Martí MJ, Kim HJ, Merello M, Stankovic I, Poewe W, Betensky R, Wenning G, Kaufmann H (2021). Limitations of the Unified Multiple System Atrophy Rating Scale as outcome measure for clinical trials and a roadmap for improvement. Clin Auton Res. Apr;31(2):157-164. doi: 10.1007/s10286-021-00782-w. Epub 2021 Feb 7. PMID: 33554315; PMCID: PMC7868077.
Park J, Deininger N, Rautenberg M, Saft C, Harmuth F, Sturm M, Riess O, Schöls L, Synofzik M, Haack TB (2021). Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al. Genet Med. Jun;23(6):1171-1172. doi: 10.1038/s41436-021-01104-1. Epub 2021 Feb 9. PMID: 33564152; PMCID: PMC8187144.
Peakman G, Russell LL, Convery RS, Nicholas JM, van Swieten JC, Jiskoot LC, Moreno F, Sanchez-Valle R, Laforce R, Graff C, Masellis M, Tartaglia MC, Rowe JB, Borroni B, Finger E, Synofzik M, Galimberti D, Vandenberghe R, de Mendonça A, Butler CR, Gerhard A, Ducharme S, Le Ber I, Tagliavini F, Santana I, Pasquier F, Levin J, Danek A, Otto M, Sorbi S, Rohrer JD; Genetic FTD Initiative (GENFI) (2022). Comparison of clinical rating scales in genetic frontotemporal dementia within the GENFI cohort. J Neurol Neurosurg Psychiatry. Feb;93(2):158-168. doi: 10.1136/jnnp-2021-326868. Epub 2021 Aug 5. PMID: 34353857; PMCID: PMC8785074.
Pérez-Soriano A, Giraldo DM, Ríos J, Muñoz E, Compta Y, Martí MJ; Catalán MSA Registry (CMSAR) (2021). Progression of Motor and Non-Motor Symptoms in Multiple System Atrophy: A Prospective Study from the Catalan-MSA Registry. J Parkinsons Dis. 11(2):685-694. doi: 10.3233/JPD-202332. PMID: 33492245.
Pérez-Soriano A, Martí MJ (2021). Mini-Review: The MSA transcriptome. Neurosci Lett. Jan;743:135586. doi: 10.1016/j.neulet.2020.135586. Epub 2020 Dec 19. PMID: 33352281.
Pijuan J, Ortigoza-Escobar JD, Ortiz J, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F, Hoenicka J (2021). PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder. Autism Res. Jun;14(6):1088-1100. doi: 10.1002/aur.2502. Epub 2021 Mar 22. PMID: 33749153.
Post AEM, Klockgether T, Landwehrmeyer GB, Pandolfo M, Arnesen A, Reinhard C & Graessner H (2021) Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases. Orphanet J Rare Dis 16(1):135-144. doi: 10.1186/s13023-020-01641-z
Rascol O, Cochen de Cock V, Pavy-Le Traon A, Foubert-Samier A, Thalamas C, Sommet A, Rousseau V, Perez-Lloret S, Fabbri M, Azulay JP, Corvol JC, Couratier P, Damier P, Defebvre L, Durif F, Geny C, Houeto JL, Remy P, Tranchant C, Verin M, Tison F, Meissner WG; MSA-FLUO Study Group (2021). Fluoxetine for the Symptomatic Treatment of Multiple System Atrophy: The MSA-FLUO Trial. Mov Disord. Jul;36(7):1704-1711. doi: 10.1002/mds.28569. Epub 2021 Apr 1. PMID: 33792958.
Rebelo AP, Eidhof I, Cintra VP, Guillot-Noel L, Pereira CV, Timmann D, Traschütz A, Schöls L, Coarelli G, Durr A, Anheim M, Tranchant C, van de Warrenburg B, Guissart C, Koenig M, Howell J, Moraes CT, Schenck A, Stevanin G, Züchner S, Synofzik M; PREPARE network (2021). Biallelic loss-of-function variations in PRDX3 cause cerebellar ataxia. Brain. Jun;144(5):1467-1481. doi: 10.1093/brain/awab071. PMID: 33889951.
Reetz K, Dogan I, Hilgers RD, Giunti P, Parkinson MH, Mariotti C, Nanetti L, Durr A, Ewenczyk C, Boesch S, Nachbauer W, Klopstock T, Stendel C, Rodríguez de Rivera Garrido FJ, Rummey C, Schöls L, Hayer SN, Klockgether T, Giordano I, Didszun C, Rai M, Pandolfo M, Schulz JB; EFACTS study group (2021). Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study. Lancet Neurol. May;20(5):362-372. doi: 10.1016/S1474-4422(21)00027-2. Epub 2021 Mar 23. PMID: 33770527.
Reinhard C, Bachoud-Lévi A-C, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI & Graessner H (2021) The European Reference Network for Rare Neurological Diseases. Front. Neurol. 11:1753-1760. doi: 10.3389/fneur.2020.616569
Riso V, Rossi S, Nicoletti TF, Tessa A, Travaglini L, Zanni G, Aiello C, Perna A, Barghigiani M, Pomponi MG, Santorelli FM, Silvestri G (2021). Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience. Brain Sci. Feb;11(2):246. doi: 10.3390/brainsci11020246. PMID: 33669240; PMCID: PMC7919782.
Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Zorzi G, Keller Sarmiento IJ, Danti FR, Bustos BI, Invernizzi F, Panteghini C, Reale C, Garavaglia B, Chiapparini L, Lubbe SJ, Nardocci N, Mencacci NE (2021). YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation. Mov Disord. Jun;36(6):1461-1462. doi: 10.1002/mds.28547. Epub 2021 Feb 27. PMID: 33638881.
Russell LL, Greaves CV, Convery RS, Nicholas J, Warren JD, Kaski D & Rohrer JD (2021) Novel instructionless eye tracking tasks identify emotion recognition deficits in frontotemporal dementia. Alz Res Therapy 13(1):39-50. doi: 10.1186/s13195-021-00775-x
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogoli A, Zara F, Traverso M, Fasham J, Lees JA, Ferla M, Chioza BA, Wenger O, Scott E, Cross HE, Crawford J, Warshawsky I, Keisling M, Agamanolis D, Melver CW, Cox H, Elawad M, Marton T, Wakeling M, Holzinger D, Tippelt S, Munteanu M, Valcheva D, Deal C, Van Meerbeke S, Vockley CW, Butte MJ, Acar U, van der Knaap MS, Korenke GC, Kotzaeridou U, Balla T, Simons C, Uhlig HH, Crosby AH, De Camilli P, Wolf NI & Baple EL (2021) Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain 144(12):3597–3610 . doi: 10.1093/brain/awab313
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND, van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium (2021). Solving unsolved rare neurological diseases-a Solve-RD viewpoint. Eur J Hum Genet. Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Erratum in: Eur J Hum Genet. 2021 Aug 25;: PMID: 33972714; PMCID: PMC8440537.
Sferra A, Fortugno P, Motta M, Aiello C, Petrini S, Ciolfi A, Cipressa F, Moroni I, Leuzzi V, Pieroni L, Marini F, Boespflug Tanguy O, Eymard-Pierre E, Danti FR, Compagnucci C, Zambruno G, Brusco A, Santorelli FM, Chiapparini L, Francalanci P, Loizzo AL, Tartaglia M, Cestra G, Bertini E (2021). Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain. Nov;144(10):3020-3035. doi: 10.1093/brain/awab185. PMID: 33964137.
Stamelou M, Respondek G, Giagkou N, Whitwell JL, Kovacs GG & Höglinger GU (2021) Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies. Nat Rev Neurol 17(10):601-620. doi: 10.1038/s41582-021-00541-5
Stellingwerff MD, Figuccia S, Bellacchio E, Alvarez K, Castiglioni C, Topaloglu P, Stutterd CA, Erasmus CE, Sanchez-Valle A, Lebon S, Hughes S, Schmitt-Mechelke T, Vasco G, Chow G, Rahikkala E, Dallabona C, Okuma C, Aiello C, Goffrini P, Abbink TEM, Bertini ES, van der Knaap MS (2021). LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. Neurol Genet. Feb;7(2):e559. doi: 10.1212/NXG.0000000000000559. PMID: 33977142; PMCID: PMC8105885.
Synofzik M, van Roon-Mom WMC, Marckmann G, van Duyvenvoorde HA, Graessner H, Schüle R, Aartsma-Rus A & on behalf of the 1M1M consortium (2021) Preparing n-of-1 Antisense Oligonucleotide Treatments for Rare Neurological Diseases in Europe: Genetic, Regulatory, and Ethical Perspectives. Nucleic Acid Therapeutics. doi: 10.1089/nat.2021.0039
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, Bruno C, Carelli V, Diodato D, Doccini S, Donati MA, Dosi C, Filosto M, Fiorillo C, La Morgia C, Lamperti C, Marchet S, Martinelli D, Minetti C, Moggio M, Mongini TE, Montano V, Moroni I, Musumeci O, Pancheri E, Pegoraro E, Primiano G, Procopio E, Rubegni A, Scalise R, Sciacco M, Servidei S, Siciliano G, Simoncini C, Tolomeo D, Tonin P, Toscano A, Tubili F, Mancuso M, Battini R, Santorelli FM (2021). Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases. J Clin Med. May;10(10):2063. doi: 10.3390/jcm10102063. PMID: 34065803; PMCID: PMC8151313.
Toth-Bencsik R, Balicza P, Varga ET, Lengyel A, Rudas G, Gal A, Molnar MJ (2021). New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family. Front Genet. Jun;12:628904. doi: 10.3389/fgene.2021.628904. PMID: 34168672; PMCID: PMC8217829.
Traschütz A, Cortese A, Reich S, Dominik N, Faber J, Jacobi H, Hartmann AM, Rujescu D, Montaut S, Echaniz-Laguna A, Erer S, Schütz VC, Tarnutzer AA, Sturm M, Haack TB, Vaucamps-Diedhiou N, Puccio H, Schöls L, Klockgether T, van de Warrenburg BP, Paucar M, Timmann D, Hilgers RD, Gazulla J, Strupp M, Moris G, Reinhard C, Bachoud-Lévi AC, Bäumer T, Bertini E, Brunelle A, Buizer AI, Federico A, Gasser T, Groeschel S, Hermanns S, Klockgether T, Krägeloh-Mann I, Landwehrmeyer GB, Leber I, Macaya A, Mariotti C, Meissner WG, Molnar MJ, Nonnekes J, Ortigoza Escobar JD, Pérez Dueñas B, Renna Linton L, Schöls L, Schuele R, Tijssen MAJ, Vandenberghe R, Volkmer A, Wolf NI, Graessner H (2021). The European Reference Network for Rare Neurological Diseases. Front Neurol. Jan;11:616569. doi: 10.3389/fneur.2020.616569. PMID: 33519696; PMCID: PMC7840612.
Traschütz A, Reich S, Adarmes AD, Anheim M, Ashrafi MR, Baets J, Basak AN, Bertini E, Brais B, Gagnon C, Gburek-Augustat J, Hanagasi HA, Heinzmann A, Horvath R, de Jonghe P, Kamm C, Klivenyi P, Klopstock T, Minnerop M, Münchau A, Renaud M, Roxburgh RH, Santorelli FM, Schirinzi T, Sival DA, Timmann D, Vielhaber S, Wallner M, van de Warrenburg BP, Zanni G, Zuchner S, Klockgether T, Schüle R, Schöls L; PREPARE Consortium, Synofzik M (2021). The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. Front Neurol. Jun;12:677551. doi: 10.3389/fneur.2021.677551. PMID: 34248822; PMCID: PMC8267795.
Tumiene B, Graessner H, Mathijssen IMJ, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H & Hoogerbrugge N (2021) European Reference Networks: challenges and opportunities. J Community Genet 12(2):217-229. doi:10.1007/s12687-021-00521-8
van der Stouwe AMM, de Jong BM, Groneck L, van Meerten T & Tijssen MAJ (2021) Video Case Report: Action Myoclonus After CAR-T Cell Therapy. Practical Neurology Feb. 2021(Case Reports):47-48
van de Venis L, van de Warrenburg BPC, Weerdesteyn V, van Lith BJH, Geurts ACH, Nonnekes J (2021). Improving gait adaptability in patients with hereditary spastic paraplegia (Move-HSP): study protocol for a randomized controlled trial. Trials. Jan;22(1):32. doi: 10.1186/s13063-020-04932-9. PMID: 33413555; PMCID: PMC7788541.
van der Weijden, M. C. M., Rodriguez-Contreras, D., Delnooz, C. C. S., Robinson, B. G., Condon, A. F., Kielhold, M. L., Stormezand, G. N., Ma, K. Y., Dufke, C., Williams, J. T., Neve, K. A., Tijssen, M. A. J., & Verbeek, D. S. (2021). A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype. Movement Disorders, 36(3), 729-739. doi: 10.1002/mds.28385
van Lonkhuizen PJC, Vegt NJH, Meijer E, van Duijn E, de Bot ST, Klempíř J, Frank W, Landwehrmeyer GB, Mühlbäck A, Hoblyn J, Squitieri F, Foley P, Chavannes NH, Heemskerk AW (2021). Study Protocol for the Development of a European eHealth Platform to Improve Quality of Life in Individuals With Huntington’s Disease and Their Partners (HD-eHelp Study): A User-Centered Design Approach. Front Neurol. Sep;12:719460. doi: 10.3389/fneur.2021.719460. PMID: 34589047; PMCID: PMC8476232.
Várhegyi V, Molnár V, Gézsi A, Sárközy P, Antal P, Molnár MJ (2021). A Magyar Genomikai Egészségtárház az egészséges hosszú élet kutatásának szolgálatában [Hungarian Genomic Data Warehouse supporting the healthy ageing research]. Orv Hetil. Jul;162(27):1079-1088. Hungarian. doi: 10.1556/650.2021.32131. PMID: 34224396.
Vilaseca I, Hidalgo J, Cámara A, Compta Y, Martí MJ (2022). Non-motor symptoms in spasmodic dysphonia: A case control-study. Auris Nasus Larynx. Feb;49(1):100-105. doi: 10.1016/j.anl.2021.05.004. Epub 2021 Jun 4. PMID: 34092434
Weissbach A, Steinmeier A, Pauly MG, Al-Shorafat DM, Saranza G, Lang AE, Brüggemann N, Tadic V, Klein C, Lohmann K, Brown MJN, Beste C, Münchau A, Bäumer T (2021). Multimodal Longitudinal Neurophysiological Investigations in Dopa-Responsive Dystonia. Mov Disord. Aug;36(8):1986-1987. doi: 10.1002/mds.28679. Epub 2021 Jun 11. PMID: 34114668.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, de Jonghe P, Deconinck T, de Ridder W, de Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta A, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network, Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J (2021). Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. Brain. Jun;144(5):1422-1434. doi: 10.1093/brain/awab041. Erratum in: Brain. 2021 Sep 4;144(8):e70. PMID: 33970200; PMCID: PMC8219359.
Wolf NI, Ffrench-Constant C, van der Knaap MS (2021). Hypomyelinating leukodystrophies – unravelling myelin biology. Nat Rev Neurol. Feb;17(2):88-103. doi: 10.1038/s41582-020-00432-1. Epub 2020 Dec 15. PMID: 33324001.
Zanni G, D’Abrusco F, Nicita F, Cascioli S, Tosi M, Corrente F, Serpieri V, Ciccone R, Motta M, Vasco G, Carsetti R, Valente EM, Bertini E (2021). PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia. Cerebellum. Jun. doi: 10.1007/s12311-021-01288-x. Epub ahead of print. PMID: 34089469.
Zanni G, Hsiao CT, Fu SJ, Tang CY, Capuano A, Bosco L, Graziola F, Bellacchio E, Servidei S, Primiano G, Soong BW, Jeng CJ (2021). Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt KV4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties. Int J Mol Sci. May;22(9):4986. doi: 10.3390/ijms22094986. PMID: 34067185; PMCID: PMC8125845.
Zorzi G, Danti FR, Reale C, Panteghini C, Invernizzi F, Moroni I, Garavaglia B, Nardocci N, Chiapparini L (2021). THAP1 Dystonia with Globus Pallidus T2 Hypointensity: A Report of Two Cases. Mov Disord. Jun;36(6):1463-1464. doi: 10.1002/mds.28555. Epub 2021 Mar 5. PMID: 33665847.
Zurek B, Ellwanger K, Vissers LELM, Schüle R, Synofzik M, Töpf A, de Voer RM, Laurie S, Matalonga L, Gilissen C, Ossowski S, ‘t Hoen PAC, Vitobello A, Schulze-Hentrich JM, Riess O, Brunner HG, Brookes AJ, Rath A, Bonne G, Gumus G, Verloes A, Hoogerbrugge N, Evangelista T, Harmuth T, Swertz M, Spalding D, Hoischen A, Beltran S, Graessner H; Solve-RD consortium (2021). Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur J Hum Genet. Sep;29(9):1325-1331. doi: 10.1038/s41431-021-00859-0. Epub 2021 Jun 1. Erratum in: Eur J Hum Genet. 2021 Aug 13. PMID: 34075208; PMCID: PMC8440542.