2020 Publications acknowledging ERN-RND

Balicza P, Bencsik R, Lengyel A, Gal A, Grosz Z, Csaban D, Rudas G, Danics K, Kovacs G G, Molnar M J (2020) Novel dominant MPAN family with a complex genetic architecture as a basis for phenotypic variability. Neurol Genet. 6(5):e515. doi: 10.1212/NXG.0000000000000515.

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, S A (2020) 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.

van der Ende E L, Xiao M, Xu D, Poos J M, Panman J L, Jiskoot L C, Meeter L H, Gp Dopper E, Papma J M, Heller C, Convery R, Moore K, Bocchetta M, Neason M, Peakman G, Cash D M, Teunissen C E, Graff C, Synofzik M, Moreno F, Finger E, Sánchez-Valle R, Vandenberghe R, Laforce Jr R, Masellis M, Tartaglia M C, Rowe J B, Butler C R, Ducharme S, Gerhard A, Danek A, Levin J, Al Pijnenburg Y, Otto M, Borroni B, Tagliavini F, de Mendonca A, Santana I, Galimberti D, Seelaar H, Rohrer J D, Worley P F, van Swieten J C, Genetic Frontotemporal Dementia Initiative (GENFI) (2020) Neuronal pentraxin 2: a synapse-derived CSF biomarker in genetic frontotemporal dementia. J Neurol Neurosurg Psychiatry 91(6):612-621. doi: 10.1136/jnnp-2019-322493.

Fallatah W, Schouten M, Yergeau C, di Pietro E, Engelen M, Waterham H R, Poll-The B T, Braverman N (2020) Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 44(4):1021-1038. doi: 10.1002/jimd.12349.

Grosz Z, Várdi K V, Molnár J M (2020) [Pompe disease treated with enzyme replacement therapy in pregnancy]. Ideggyogy Sz. 73(9-10):339-344. doi: 10.18071/isz.73.0339.

Gur-Hartman T, Berkowitz O, Yosovich K, Roubertie A, Zanni G, Macaya A, Heimer G, Pérez Dueñas B, Sival D A, Pode-Shakked B, López-Laso E, Humbertclaude V, Riant F, Bosco L, Bachar Cayron L, Nissenkorn A, Nicita F, Bertini E, Hassin S, Zeev B B, Zerem A, Libzon S, Lev D, Linder I, Lerman-Sagie T, Blumkin L (2020) Clinical phenotypes of infantile onset CACNA1A-related disorder. Eur J Paediatr Neurol. 30:144-154. doi: 10.1016/j.ejpn.2020.10.004.

Husain R A, Grimmel M, Wagner M, Hennings M C, Marx C, Feichtinger R G, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer M C, Besse A, Cheuk-Him Ng A, Chiang D, Bolduc F, Tafakhori A, Mane S, Firouzabadi S G, Huebner A K, Buchert R, Beck-Woedl S, Müller A J, Laugwitz L, Nägele T, Wang ZQ, Strom T M, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner C A, Deschauer M, Mayr J A, Bonnen P E, Krägeloh-Mann I, Wortmann S B, Haack T B (2020) Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet.107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015.

Iankova V, Respondek G, Saranza G, Painous C, Cámara A, Compta Y, Aiba I, Balint B, Giagkou N, Josephs K A, Otsuki M, Golbe L I, Bhatia K P, Stamelou M, Lang A E, G U, Movement Disorder Society-endorsed PSP Study Group (2020) Video-tutorial for the Movement Disorder Society criteria for progressive supranuclear palsy. Parkinsonism Relat Disord. 78:200-203. doi: 10.1016/j.parkreldis.2020.06.030.

Klopstock T, Videnovic A, Bischoff A T, Bonnet C, Cif L, Comella C, Correa-Vela M, Escolar M L, Fraser J L, Gonzalez V, Hermanowicz N, Jech R, Jinnah H A, Kmiec T, Lang A, Martí M J, Mercimek-Andrews S, Monduy M, Nimmo G A M, Perez-Dueñas B, Pfeiffer H C V, Planellas L, Roze E, Thakur N, Tochen L, Vanegas-Arroyave N, Zorzi G, Burns C, Greblikas F (2020) Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord. 36(6):1342-1352. doi: 10.1002/mds.28392.

Kovacs G G, Lukic M J, Irwin D J, Arzberger T, Gesine Respondek G, Lee E B, Coughlin D, Giese A, Grossman M, Kurz C, McMillan C T, Gelpi E, Compta Y, van Swieten J C, Donker Laat L, Troakes C, Al-Sarraj S, Robinson J L, Roeber S, Xie S X, M-Y Lee V, Trojanowski J Q, Höglinger G U (2020) Distribution patterns of tau pathology in progressive supranuclear palsy. Acta Neuropathol.140(2):99-119. doi: 10.1007/s00401-020-02158-2.

Lesinskienė S, Rojaka D, Praninskienė R, Morkūnienė A, Matulevičienė A, Utkus A (2020) Juvenile Huntington’s disease: two case reports and a review of the literature. J Med Case Rep; 14(1):173. doi: 10.1186/s13256-020-02494-7.

Marshall R D, Collins A, Escolar M L, Jinnah H A, Klopstock T, Kruer M C, Videnovic A, Robichaux-Viehoever A, Swett L, Revicki D A, Bender R H, Lenderking W R (2020) A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration. Mov Disord Clin Pract. 6(2):139-149. doi: 10.1002/mdc3.12716.

Meyer M, Lamare F, Asselineau J, Foubert-Samier A, Mazère J, Zanotti-Fregonara P, Rizzo G, Delamarre A, Spampinato U, Rascol O, Pavy-Le Traon A, Tison F, Fernandez P, Sibon I, Meissner W G (2020) Brain 5-HT1A Receptor Binding in Multiple System Atrophy: An [ 18 F]-MPPF PET Study. Mov Disord. 36(1):246-251. doi: 10.1002/mds.28295.

Neuhofer C M, Catarino C B, Schmidt H, Seelos K, Alhaddad B, Haack T B, Klopstock T. (2020) LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum. Neurol Genet. 6(5):e500. doi: 10.1212/NXG.0000000000000500

Ortigoza-Escobar J D (2020) A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders. Front Neurol. 11:582160. doi: 10.3389/fneur.2020.582160.

Painous C, van Os N J H, Delamarre A, Michailoviene I, Marti M J, van de Warrenburg B P, Meissner W G, Utkus A, Reinhard C, Graessner H, M A (2020) Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases. Eur J Neurol. 27(8):1493-1500. doi: 10.1111/ene.14302.

Pérez-Soriano A, Bravo P, Soto M, Infante J, Fernández M, Valldeoriola F, Muñoz E, Compta Y, Tolosa E, Garrido A, Ezquerra M, Fernández-Santiago R, Martí MJ, Catalan MSA registry (CMSAR) (2020) MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways. Mov Disord. 35(10):1873-1879. doi: 10.1002/mds.28143.

Rossi M, van der Veen S, Merello M, Tijssen M A J, van de Warrenburg B (2020) Myoclonus-Ataxia Syndromes: A Diagnostic Approach. Mov Disord Clin Pract. 8(1):9-24. doi: 10.1002/mdc3.13106.

Russell L L, Greaves C V, Bocchetta M, Nicholas J, Convery R S, Moore K, Cash D M, van Swieten J, Jiskoot L, Moreno F, Sanchez-Valle R, Borroni B, Laforce Jr R, Masellis M, Tartaglia M C, Graff C, Rotondo E, Galimberti D, Rowe J B, Finger E, Synofzik M, Vandenberghe R, de Mendonça A, Tagliavini F, Santana I, Ducharme S, Butler C, Gerhard A, Levin J, Danek A, Otto M, Warren J D, Rohrer J D, Genetic FTD Initiative (GENFI) (2020) Social cognition impairment in genetic frontotemporal dementia within the GENFI cohort. Cortex. 133:384-398. doi: 10.1016/j.cortex.2020.08.023.

Sferra A, Nicita F, Bertini E (2020) Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases. Int J Mol Sci 21(19):7354. doi: 10.3390/ijms21197354.

Summa S, Tartarisco G, Favetta M, Buzachis A, Romano A, Bernava G M, Sancesario A, Vasco G, Pioggia G, Petrarca M, Castelli E, Bertini E, Schirinzi T (2020) Validation of low-cost system for gait assessment in children with ataxia. Comput Methods Programs Biomed. doi: 10.1016/j.cmpb.2020.105705.

Summa S, Tartarisco G, Favetta M, Buzachis A, Romano A, Bernava G M, Vasco G, Pioggia G, Petrarca M, Castelli E, Bertini E, Schirinzi T (2020) Spatio-temporal parameters of ataxia gait dataset obtained with the Kinect. Data in Brief 11;32:106307. doi: 10.1016/j.dib.2020.106307.

Traschütz A, Schirinzi T, Laugwitz L, Murray N H, Bingman C A, Reich S, Kern J, Heinzmann A, Vasco G, Bertini E, Zanni G, Durr A, Magri S, Taroni F, Malandrini A, Baets J, de Jonghe P, de Ridder W, Bereau M, Demuth S, Ganos C, Nazli Basak A, Hanagasi H, Hiz Kurul S, Bender B, Schöls L, Grasshoff U, Klopstock T, Horvath R, van de Warrenburg B, Burglen L, Rougeot C, Ewenczyk C, Koenig M, Santorelli F M, Anheim M, Munhoz R P, Haack T, Distelmaier F, Pagliarini D J, Puccio H, Synofzik M (2020) Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients. Ann Neurol. 88(2):251-263. doi: 10.1002/ana.25751.

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, Yu Ma K, Dufke C, Williams J T, Neve K A, Tijssen M A J, Verbeek D S (2020) A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype. Mov Disord. 36(3):729-739. doi: 10.1002/mds.28385.

Werning M, Müllner E W, Mlynek G, Dobretzberger V, Djinovic-Carugo K, Baron D M, Prokisch H, Büchner B, Klopstock T, Salzer U (2020) PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes. Ann Clin Transl Neurol. 7(8):1340-1351. doi: 10.1002/acn3.51127.