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- [1] Loss-of-function mutations in the SIGMAR1 gene cause distal hereditary motor neuropathy by impairing ER-mitochondria tethering and Ca2+ signallingHUMAN MOLECULAR GENETICS, 2016, 25 (17) : 3741 - 3753Gregianin, ElisaPallafacchina, GiorgiaZanin, SofiaCrippa, ValeriaRusmini, PaolaPoletti, AngeloFang, MingyanLi, ZhouxuanDiano, LauraPetrucci, AntonioLispi, LudovicoCavallaro, TizianaFabrizi, Gian M.Muglia, MariaBoaretto, FrancescaVettori, AndreaRizzuto, RosarioMostacciuolo, Maria L.Vazza, Giovanni
- [2] Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variantsNEUROMUSCULAR DISORDERS, 2020, 30 (07) : 572 - 575Ma, Maxwell T.Chen, Dong-HuiRaskind, Wendy H.Bird, Thomas D.
- [3] SIGMAR1 gene novel mutation causes distal hereditary motor neuropathy phenotypeEUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 : 635 - 635Vieira, L.Ribeiro, J.Matos, A.Geraldo, A.Laranjeira, F.Fernandez-Marmiesse, A.Negrao, L.
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- [5] In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family (vol 16C, 100445, 2019)GENE REPORTS, 2021, 24Mehmood, SarmadHarlalka, Gaurav V.Dad, RubinaChioza, Barry A.Ullah, Muhammad I.Ahmad, ArsalanCrosby, Andrew H.Baple, Emma L.Hassan, Muhammad J.
- [6] NOVEL LOSS-OF-FUNCTION MUTATION OF THE HINT1 GENE IN A PATIENT WITH DISTAL MOTOR AXONAL NEUROPATHY WITHOUT NEUROMYOTONIAMUSCLE & NERVE, 2015, 52 (04) : 688 - 689Boaretto, FrancescaCacciavillani, MarioMostacciuolo, Maria LuisaSpalletta, AmbraPiscosquito, GiuseppePareyson, DavideVazza, GiovanniBriani, Chiara
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- [8] Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 SignalingAMERICAN JOURNAL OF HUMAN GENETICS, 2016, 99 (02) : 299 - 317Cetinkaya, ArdaXiong, Jingwei RachelVargel, IbrahimKosemehmetoglu, KemalCanter, Halil IbrahimGerdan, Omer FarukLongo, NicolaAlzahrani, AhmadCamps, Mireia PerezTaskiran, Ekim ZihniLaupheimer, SimoneBotto, Lorenzo D.Paramalingam, EeswariGormez, ZelihaUz, ElifYuksel, BayramRuacan, SevketSagiroglu, Mahmut SamilTakahashi, TokiharuReversade, BrunoAkarsu, Nurten Ayse
- [9] Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)BRAIN, 2017, 140 (02) : 287 - 305Estrada-Cuzcano, AlejandroMartin, ShaunChamova, TeodoraSynofzik, MatthisTimmann, DagmarHolemans, TineAndreeva, AlbenaReichbauer, JenniferDe Rycke, RietChang, Dae-Invan Veen, SarahSamuel, JeanSchoels, LudgerPoeppel, ThorstenSorensen, Danny MollerupAsselbergh, BobKlein, ChristineZuchner, StephanJordanova, AlbenaVangheluwe, PeterTournev, IvailoSchuele, Rebecca
- [10] Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)BRAIN, 2017, 140 : 287 - 305Estrada-Cuzcano, AlejandroMartin, ShaunChamova, TeodoraSynofzik, MatthisTimmann, DagmarHolemans, TineAndreeva, AlbenaReichbauer, JenniferDe Rycke, RietChang, Dae-Invan Veen, SarahSamuel, JeanSchoels, LudgerPoppel, ThorstenSorensen, Danny MollerupAsselbergh, BobKlein, ChristineZuchner, StephanJordanova, AlbenaVangheluwe, PeterTournev, IvailoSchule, Rebecca