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A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats J van der Zee, I Gijselinck, L Dillen, T Van Langenhove, J Theuns, ... Human mutation 34 (2), 363-373, 2013 | 316 | 2013 |
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First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy D Adams, OB Suhr, E Hund, L Obici, I Tournev, JM Campistol, MS Slama, ... Current opinion in neurology 29, S14-S26, 2016 | 257 | 2016 |
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3 J Senderek, SM Garvey, M Krieger, V Guergueltcheva, A Urtizberea, ... The American Journal of Human Genetics 84 (4), 511-518, 2009 | 206 | 2009 |
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Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome R Varon, R Gooding, C Steglich, L Marns, H Tang, D Angelicheva, ... Nature genetics 35 (2), 185-189, 2003 | 191 | 2003 |
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) A Estrada-Cuzcano, S Martin, T Chamova, M Synofzik, D Timmann, ... Brain 140 (2), 287-305, 2017 | 167 | 2017 |
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ... Nature genetics 44 (10), 1080-1083, 2012 | 148 | 2012 |
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial D Adams, IL Tournev, MS Taylor, T Coelho, V Planté-Bordeneuve, ... Amyloid 30 (1), 18-26, 2023 | 141 | 2023 |
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance K Peeters, I Litvinenko, B Asselbergh, L Almeida-Souza, T Chamova, ... The American Journal of Human Genetics 92 (6), 955-964, 2013 | 130 | 2013 |
Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations I Conceição, T Damy, M Romero, L Galán, S Attarian, M Luigetti, M Sadeh, ... Amyloid 26 (1), 3-9, 2019 | 127 | 2019 |
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration J Van Der Zee, T Van Langenhove, GG Kovacs, L Dillen, W Deschamps, ... Acta neuropathologica 128, 397-410, 2014 | 118 | 2014 |