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SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Lenz D, McClean P, Kansu A, Bonnen PE, Ranucci G, Thiel C, Straub BK, Harting I, Alhaddad B, Dimitrov B, Kotzaeridou U, Wenning D, Iorio R, Himes RW, Kuloğlu Z, Blakely EL, Taylor RW, Meitinger T, Kölker S, Prokisch H, Hoffmann GF, Haack TB, Staufner C. Lenz D, et al. Among authors: bonnen pe. Genet Med. 2018 Oct;20(10):1255-1265. doi: 10.1038/gim.2017.260. Epub 2018 Feb 8. Genet Med. 2018. PMID: 29419818 Free PMC article.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB. Danhauser K, et al. Among authors: bonnen pe. Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401461 Free PMC article.
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.
Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Alston CL, et al. Among authors: bonnen pe. Am J Hum Genet. 2020 Jan 2;106(1):92-101. doi: 10.1016/j.ajhg.2019.12.001. Epub 2019 Dec 19. Am J Hum Genet. 2020. PMID: 31866046 Free PMC article.
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. Husain RA, et al. Among authors: bonnen pe. Am J Hum Genet. 2020 Aug 6;107(2):364-373. doi: 10.1016/j.ajhg.2020.06.015. Epub 2020 Jul 23. Am J Hum Genet. 2020. PMID: 32707086 Free PMC article.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Laugwitz L, Seibt A, Herebian D, Peralta S, Kienzle I, Buchert R, Falb R, Gauck D, Müller A, Grimmel M, Beck-Woedel S, Kern J, Daliri K, Katibeh P, Danhauser K, Leiz S, Alesi V, Baertling F, Vasco G, Steinfeld R, Wagner M, Caglayan AO, Gumus H, Burmeister M, Mayatepek E, Martinelli D, Tamhankar PM, Tamhankar V, Joset P, Steindl K, Rauch A, Bonnen PE, Froukh T, Groeschel S, Krägeloh-Mann I, Haack TB, Distelmaier F. Laugwitz L, et al. Among authors: bonnen pe. J Med Genet. 2022 Sep;59(9):878-887. doi: 10.1136/jmedgenet-2021-107729. Epub 2021 Oct 16. J Med Genet. 2022. PMID: 34656997 Free PMC article.
56 results