2021 Publications acknowledging ERN-RND

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

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

Faber J, Schaprian T, Berkan K, Reetz K, França Jr MC, 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 J-S, 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, 36(10):2273-2281. doi:10.1002/mds.28610

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

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

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

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

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

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

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

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