| 1 | HPDL, HPDLD |
| Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL. 2021 PMID: | |
| Morgan NV, Yngvadottir B, O'Driscoll M, Clark GR, Walsh D, Martin E, Tee L, Reid E, Titheradge HL, Maher ER. | |
| Brain Commun. Jan 28;3(1):fcab002. doi: 10.1093/braincomms/fcab002. 2021 | |
| 2 | HPDL, SPG83 |
| 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, Schüle R, Horvath R, Houlden H, Bartesaghi L, Lee HJ, Ampatzis K, Pierson TM, Senderek J. | |
| Brain. Jun 22;144(5):1422-1434. doi: 10.1093/brain/awab041. Erratum in: Brain. 2021 Sep 4;144(8):e70. 2021 | |
| 3 | HPDL, SPG83 |
| Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient. | |
| Yu H, Wei Q, Luo WJ, Wu ZY. | |
| Clin Genet. Dec;100(6):777-778. doi: 10.1111/cge.14056. Epub 2021 Sep 13 2021 | |
| 4 | HPDL, HPDLD |
| Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet. 2021 PMID: | |
| Numata-Uematsu Y, Uematsu M, Yamamoto T, Saitsu H, Katata Y, Oikawa Y, Saijyo N, Inui T, Murayama K, Ohtake A, Osaka H, Takanashi JI, Kure S, Inoue K | |
| Mol Genet Metab Rep. Sep 4;29:100800. doi: 10.1016/j.ymgmr.2021.100800. 2021 | |
| 5 | HPDL, SOX17 |
| Determination of Genetic and Epigenetic Modifications-Related Prognostic Biomarkers of Breast Cancer: Genome High-Throughput Data Analysis. | |
| Gao C, Li H, Liu C, Wu J, Zhou C, Liu L, Zhuang J, Sun C. | |
| J Oncol. Sep 13;2021:2143362. doi: 10.1155/2021/2143362. 2021 | |
| 6 | HPDL, HPDLD |
| Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia | |
| Husain RA, Grimmel M, Wagner M, Hennings JC, Marx C, Feichtinger RG, Saadi A, Rostásy K, Radelfahr F, Bevot A, Döbler-Neumann M, Hartmann H, Colleaux L, Cordts I, Kobeleva X, Darvish H, Bakhtiari S, Kruer MC, Besse A, Ng AC, Chiang D, Bolduc F, Tafakhori A, Mane S, Ghasemi Firouzabadi S, Huebner AK, Buchert R, Beck-Woedl S, Müller AJ, Laugwitz L, Nägele T, Wang ZQ, Strom TM, Sturm M, Meitinger T, Klockgether T, Riess O, Klopstock T, Brandl U, Hübner CA, Deschauer M, Mayr JA, Bonnen PE, Krägeloh-Mann I, Wortmann SB, Haack TB | |
| Am J Hum Genet. Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23 2020 | |
| 7 | HPDL, IRAK3 |
| Methylation of IRAK3 is a novel prognostic marker in hepatocellular carcinoma. | |
| Kuo CC, Shih YL, Su HY, Yan MD, Hsieh CB, Liu CY, Huang WT, Yu MH, Lin YW. | |
| World J Gastroenterol. Apr 7;21(13):3960-9. doi: 10.3748/wjg.v21.i13.3960 2015 | |