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Page 1
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Wiessner M, Maroofian R, Ni MY, Pedroni A, Müller JS, Stucka R, Beetz C, Efthymiou S, Santorelli FM, Alfares AA, Zhu C, Uhrova Meszarosova A, Alehabib E, Bakhtiari S, Janecke AR, Otero MG, Chen JYH, Peterson JT, Strom TM, De Jonghe P, Deconinck T, De Ridder W, De Winter J, Pasquariello R, Ricca I, Alfadhel M, van de Warrenburg BP, Portier R, Bergmann C, Ghasemi Firouzabadi S, Jin SC, Bilguvar K, Hamed S, Abdelhameed M, Haridy NA, Maqbool S, Rahman F, Anwar N, Carmichael J, Pagnamenta AT, Wood NW, Tran Mau-Them F, Haack T; Genomics England Research Consortium, PREPARE network; Di Rocco M, Ceccherini I, Iacomino M, Zara F, Salpietro V, Scala M, Rusmini M, Xu Y, Wang Y, Suzuki Y, Koh K, Nan H, Ishiura H, Tsuji S, Lambert L, Schmitt E, Lacaze E, Küpper H, Dredge D, Skraban C, Goldstein A, Willis MJH, Grand K, Graham JM, Lewis RA, Millan F, Duman Ö, Olgac Dundar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Català-Bordes A, Seeman P, Kuchar M, Darvish H, Rebelo A, Bouçanova F, Medard JJ, Chrast R, Auer-Grumbach M, Alkuraya FS, Shamseldin H, Al Tala S, Rezazadeh Varaghchi J, Najafi M, Deschner S, Gläser D, Hüttel W, Kruer MC, Kamsteeg EJ, Takiyama Y, Züchner S, Baets J, Synofzik M, Sch… See abstract for full author list ➔ Wiessner M, et al. Among authors: senderek j. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
Auer-Grumbach M, Weger M, Fink-Puches R, Papić L, Fröhlich E, Auer-Grumbach P, El Shabrawi-Caelen L, Schabhüttl M, Windpassinger C, Senderek J, Budka H, Trajanoski S, Janecke AR, Haas A, Metze D, Pieber TR, Guelly C. Auer-Grumbach M, et al. Among authors: senderek j. Brain. 2011 Jun;134(Pt 6):1839-52. doi: 10.1093/brain/awr076. Epub 2011 May 15. Brain. 2011. PMID: 21576112 Free PMC article.
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
Schabhüttl M, Wieland T, Senderek J, Baets J, Timmerman V, De Jonghe P, Reilly MM, Stieglbauer K, Laich E, Windhager R, Erwa W, Trajanoski S, Strom TM, Auer-Grumbach M. Schabhüttl M, et al. Among authors: senderek j. J Neurol. 2014 May;261(5):970-82. doi: 10.1007/s00415-014-7289-8. Epub 2014 Mar 15. J Neurol. 2014. PMID: 24627108
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Baets J, et al. Among authors: senderek j. Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11. Brain. 2015. PMID: 25678562 Free PMC article.
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J. Safka Brozkova D, et al. Among authors: senderek j. Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13. Brain. 2015. PMID: 26072516 Free PMC article.
Hereditary Neuropathies: Update 2017.
Rudnik-Schöneborn S, Auer-Grumbach M, Senderek J. Rudnik-Schöneborn S, et al. Among authors: senderek j. Neuropediatrics. 2017 Aug;48(4):282-293. doi: 10.1055/s-0037-1603518. Epub 2017 Jun 8. Neuropediatrics. 2017. PMID: 28597455 Review. No abstract available.
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
Vill K, Müller-Felber W, Gläser D, Kuhn M, Teusch V, Schreiber H, Weis J, Klepper J, Schirmacher A, Blaschek A, Wiessner M, Strom TM, Dräger B, Hofmeister-Kiltz K, Tacke M, Gerstl L, Young P, Horvath R, Senderek J. Vill K, et al. Among authors: senderek j. Hum Genet. 2018 Dec;137(11-12):911-919. doi: 10.1007/s00439-018-1952-6. Epub 2018 Nov 21. Hum Genet. 2018. PMID: 30460542
133 results