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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 A, 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, Dündar N, Uyanik G, Schöls L, Nürnberg P, Nürnberg G, Catala 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: peterson jt. Brain. 2021 Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Brain. 2021. PMID: 33970200 Free PMC article.
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… See abstract for full author list ➔ Wiessner M, et al. Among authors: peterson jt. Brain. 2021 Sep 4;144(8):e70. doi: 10.1093/brain/awab193. Brain. 2021. PMID: 34480796 Free PMC article. No abstract available.
End Stage Mitochondrial Cardiomyopathy and Heart Transplantation Due to Biallelic Pathogenic C1QBP Variants.
Wilcox NS, Prenner SB, Cevasco M, Condit C, Goldstein A, Peterson JT, Tondi Resta I, Palmer M, Lal P, Owens AT, Pieretti J, Drivas TG, Reza N. Wilcox NS, et al. Among authors: peterson jt. Circ Genom Precis Med. 2022 Apr;15(2):e003559. doi: 10.1161/CIRCGEN.121.003559. Epub 2022 Feb 4. Circ Genom Precis Med. 2022. PMID: 35119291 Free PMC article. No abstract available.
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC. Alves CAPF, et al. Among authors: peterson jt. AJNR Am J Neuroradiol. 2023 May;44(5):602-610. doi: 10.3174/ajnr.A7837. Epub 2023 Apr 6. AJNR Am J Neuroradiol. 2023. PMID: 37024306 Free PMC article. Review.
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.
Wang J, Balciuniene J, Diaz-Miranda MA, McCormick EM, Aref-Eshghi E, Muir AM, Cao K, Troiani J, Moseley A, Fan Z, Zolkipli-Cunningham Z, Goldstein A, Ganetzky RD, Muraresku CC, Peterson JT, Spinner NB, Wallace DC, Dulik MC, Falk MJ. Wang J, et al. Among authors: peterson jt. Mol Genet Metab. 2022 Jan;135(1):93-101. doi: 10.1016/j.ymgme.2021.12.006. Epub 2021 Dec 18. Mol Genet Metab. 2022. PMID: 34969639 Free PMC article.
Development of a Mitochondrial Myopathy-Composite Assessment Tool.
Flickinger J, Fan J, Wellik A, Ganetzky R, Goldstein A, Muraresku CC, Glanzman AM, Ballance E, Leonhardt K, McCormick EM, Soreth B, Nguyen S, Gornish J, George-Sankoh I, Peterson J, MacMullen LE, Vishnubhatt S, McBride M, Haas R, Falk MJ, Xiao R, Zolkipli-Cunningham Z. Flickinger J, et al. JCSM Clin Rep. 2021 Oct;6(4):109-127. Epub 2021 Aug 30. JCSM Clin Rep. 2021. PMID: 35071983 Free PMC article.
Optimized Nutrition in Mitochondrial Disease Correlates to Improved Muscle Fatigue, Strength, and Quality of Life.
DiVito D, Wellik A, Burfield J, Peterson J, Flickinger J, Tindall A, Albanowski K, Vishnubhatt S, MacMullen L, Martin I, Muraresku C, McCormick E, George-Sankoh I, McCormack S, Goldstein A, Ganetzky R, Yudkoff M, Xiao R, Falk MJ, R Mascarenhas M, Zolkipli-Cunningham Z. DiVito D, et al. Neurotherapeutics. 2023 Oct;20(6):1723-1745. doi: 10.1007/s13311-023-01418-9. Epub 2023 Sep 18. Neurotherapeutics. 2023. PMID: 37723406 Free PMC article.
69 results