2019 Publications acknowledging ERN-RND

 

Albrecht F, Mueller K, Ballarini T, Lampe L, Diehl-Schmid J, Fassbender K, Fliessbach K, Jahn H, Jech R, Kassubek J, Kornhuber J, Landwehrmeyer B, Lauer M, Ludolph A C, Lyros E, Prudlo J, Schneider A, Synofzik M, Wiltfang J, Danek A, Otto M, FTLD-Consortium, Schroeter M L (2019) Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging. Cortex 117:33-40. doi: 10.1016/j.cortex.2019.02.015.

Bachoud-Lévi AC, Ferreira J, Massart R, Youssov K, Rosser A, Busse M, Craufurd D, Reilmann R, de Michele G, Rae D, Squitieri F, Seppi K, Perrine C, Scherer-Gagou C, Audrey O, Verny C, Burgunder JM (2019) International Guidelines for the Treatment of Huntington’s Disease. Front Neurol. 10:710. doi: 10.3389/fneur.2019.00710.

Ballarini T, Albrecht F, Mueller K, Jech R, Diehl-Schmid J, Fliessbach K, Kassubek J, Lauer M, Fassbender K, Schneider A, Synofzik M, Wiltfang J, FTLD Consortium Germany; 4RTNI, Otto M, Schroeter M L (2019) Disentangling brain functional network remodeling in corticobasal syndrome – A multimodal MRI study. Neuroimage Clin. 25:102112. doi: 10.1016/j.nicl.2019.102112

Compta Y, Dias S P, Giraldo D M, Pérez-Soriano A, Muñoz E, Saura J, Fernández M, Bravo P, Cámara A, Pulido-Salgado M, Painous C, Ríos J, Martí M J, CMSAR consortium (2019) Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study. Parkinsonism Relat Disord. 65:3-12. doi: 10.1016/j.parkreldis.2019.05.040.

De Luca C M G, Elia A E, Portaleone S M, Cazzaniga F A, Rossi M, Bistaffa E, de Cecco E, Narkiewicz J, Salzano G, Carletta O, Romito L, Devigili G, Soliveri P, Tiraboschi P, Legname G, Tagliavini F, Eleopra R, Giaccone G, Moda F (2019) Efficient RT-QuIC seeding activity for α-synuclein in olfactory mucosa samples of patients with Parkinson’s disease and multiple system atrophy. Transl Neurodegener. 8:24. doi: 10.1186/s40035-019-0164-x.

Dušek P, Ibarburu V L Y L, Bezdicek O, Dall’antonia I, Dostálová S, Kovalská P, Krupička R, Nepožitek J, Nikolai T, Novotný M, Peřinová P, Rusz J, Serranová T, Tykalová T, Ulmanová O, Mecková Z, Ptáčník V, Trnka J, Zogala D, Růžička E, Šonka K (2019) Relations of non-motor symptoms and dopamine transporter binding in REM sleep behavior disorder. Sci Rep. 9(1):15463. doi: 10.1038/s41598-019-51710-y.

Dusek P, Mekle R, Skowronska M, Acosta-Cabronero J, Huelnhagen T, Robinson S D, Schubert F, Deschauer M, Els A, Ittermann B, Schottmann G, Madai V I, Paul F, Klopstock T, Kmiec T, Niendorf T, Wuerfel J, Schneider S A (2019) Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration. Mov Disord. 35(1):142-150. doi: 10.1002/mds.27827.

Grimm MJ, Respondek G, Stamelou M, Arzberger T, Ferguson L, Gelpi E, Giese A, Grossman M, Irwin D J, Pantelyat A, Rajput A, Roeber S, van Swieten J C, Troakes C, Antonini A, Bhatia K P, Colosimo C, van Eimeren T, Kassubek J, Levin J, Meissner W G, Nilsson C, Oertel W H, Piot I, Poewe W, Wenning G K, Boxer A, Golbe L I, Josephs K A, Litvan I, Morris H R, Whitwell J L, Compta Y, Corvol JC, Lang A E, Rowe J B, Höglinger G U, Movement Disorder Society-endorsed PSP Study Group (2019) How to apply the movement disorder society criteria for diagnosis of progressive supranuclear palsy. Mov Disord. 34(8):1228-1232. doi: 10.1002/mds.27666.

Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk R M L, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap M J, Pouwels P J W, Wolf N I (2019) POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics. 21(2):121-133. doi: 10.1007/s10048-019-00602-4.

Khan K, Zech M, Morgan A T, Amor D J, Skorvanek M, Khan T N, Hildebrand M S, Jackson V E, Scerri T S, Coleman M, Rigbye K A, Scheffer I E, Bahlo M, Wagner M, Lam D D Berutti R, Havránková P, Fečíková A, Strom T M, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney M R, Baig S M, Jech R, Davis E E, Katsanis N, Winkelmann J (2019) Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet Med. 21(11):2532-2542. doi: 10.1038/s41436-019-0523-0.

Klopstock T, Escolar M L, Marshall R D, Perez-Dueñas B, S, Videnovic A, Greblikas F (2019) The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration. Clin Trials. 16(4):410-418. doi: 10.1177/1740774519845673.

Klopstock T, Tricta F, Neumayr L, Karin I, Zorzi G, Fradette C, Kmieć T, Büchner B, Steele H E, Horvath R, Chinnery P F, Basu A, Küpper C, Neuhofer C, Kálmán B, Dušek P, Yapici Z, Wilson I, Zhao F, Zibordi F, Nardocci N, Aguilar C, Hayflick S J, Spino M, Blamire A M,Hogarth P, Vichinsky E (2019) Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study. Lancet Neurol. 18(7):631-642. doi: 10.1016/S1474-4422(19)30142-5.

Mendes M I, Green L M C, Bertini E, Tonduti D, Aiello C, Smith D, Salsano E, Beerepoot S, Hertecant J, von Spiczak S, Livingston J H, Emrick L, Fraser J, Russell L, Bernard G, Magri S, Di Bella D, Taroni F, Koenig M K, Moroni I, Cappuccio G, Brunetti-Pierri N, Rhee J, Mendelsohn B A, Helbig I, Helbig K, Muhle H, Ismayl O, Vanderver A L, Salomons G S, van der Knaap M S, Wolf N I (2019) RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. Ann Clin Transl Neurol. 7(1):83-93. doi: 10.1002/acn3.50960.

Morén C, Juárez-Flores D L, Chau KY, Gegg M, Garrabou G, González-Casacuberta I, Guitart-Mampel M, Tolosa E, Martí M J, Cardellach F, Schapira A H V (2019) GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models. Aging. 11(22):10338-10355. doi: 10.18632/aging.102460.

Pérez-Soriano A, Cámara A, Compta Y. (2019) Setting in motion physiotherapy for MSAp. Parkinsonism Relat Disord. 67:72-73. doi: 10.1016/j.parkreldis.2019.10.025.

Reilmann R, McGarry A, Grachev I D, Savola JM, Borowsky B, Eyal E, Gross N, Langbehn D, Schubert R, Wickenberg A T, Papapetropoulos S, Hayden M, Squitieri F, Kieburtz K, Landwehrmeyer G B, European Huntington’s Disease Network; Huntington Study Group investigators (2019) Safety and efficacy of pridopidine in patients with Huntington’s disease (PRIDE-HD): a phase 2, randomised, placebo-controlled, multicentre, dose-ranging study. Lancet Neurol. 18(2):165-176. doi: 10.1016/S1474-4422(18)30391-0.

Rusz J, Fečíková A, Tykalová T, Jech R (2019) Effect of pallidal deep-brain stimulation on articulation rate in dystonia. Neurol Sci. 40(4):869-873. doi: 10.1007/s10072-019-3702-5.

Rusz J, Tykalová T, Salerno G, Bancone S, Scarpelli J, Pellecchia M T (2019) Distinctive speech signature in cerebellar and parkinsonian subtypes of multiple system atrophy. J Neurol. 266(6):1394-1404. doi: 10.1007/s00415-019-09271-7.