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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: wolf p. 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.
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database.
Betsalel OT, Rosenberg EH, Almeida LS, Kleefstra T, Schwartz CE, Valayannopoulos V, Abdul-Rahman O, Poplawski N, Vilarinho L, Wolf P, den Dunnen JT, Jakobs C, Salomons GS. Betsalel OT, et al. Among authors: wolf p. Eur J Hum Genet. 2011 Jan;19(1):56-63. doi: 10.1038/ejhg.2010.134. Epub 2010 Aug 18. Eur J Hum Genet. 2011. PMID: 20717164 Free PMC article.
Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.
Lotte J, Bast T, Borusiak P, Coppola A, Cross JH, Dimova P, Fogarasi A, Graneß I, Guerrini R, Hjalgrim H, Keimer R, Korff CM, Kurlemann G, Leiz S, Linder-Lucht M, Loddenkemper T, Makowski C, Mühe C, Nicolai J, Nikanorova M, Pellacani S, Philip S, Ruf S, Sánchez Fernández I, Schlachter K, Striano P, Sukhudyan B, Valcheva D, Vermeulen RJ, Weisbrod T, Wilken B, Wolf P, Kluger G. Lotte J, et al. Among authors: wolf p. Seizure. 2016 Feb;35:106-10. doi: 10.1016/j.seizure.2016.01.006. Epub 2016 Jan 6. Seizure. 2016. PMID: 26820223 Free article.
Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: wolf p. J Exp Med. 2024 Jul 1;221(7):e2022112205142024c. doi: 10.1084/jem.2022112205142024c. Epub 2024 May 21. J Exp Med. 2024. PMID: 38771261 Free PMC article. No abstract available.
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: wolf p. J Exp Med. 2024 Jul 1;221(7):e20221122. doi: 10.1084/jem.20221122. Epub 2024 May 9. J Exp Med. 2024. PMID: 38722309 Free PMC article.
The epileptic heart: Cardiac comorbidities and complications of epilepsy. Atrial and ventricular structure and function by echocardiography in individuals with epilepsy - From clinical implications to individualized assessment.
Loureiro Fialho G, Miotto R, Tatsch Cavagnollo M, Murilo Melo H, Wolf P, Walz R, Lin K. Loureiro Fialho G, et al. Among authors: wolf p. Epilepsy Behav Rep. 2024 Apr 18;26:100668. doi: 10.1016/j.ebr.2024.100668. eCollection 2024. Epilepsy Behav Rep. 2024. PMID: 38699061 Free PMC article. Review.
Motion Analysis of the Wrist and Finger Joints in Sport Climbing.
Fischer G, Schneeberger M, Petter SA, Scheibler AG, Wolf P, Calcagni M, Schweizer A, Reissner L. Fischer G, et al. Among authors: wolf p. Bioengineering (Basel). 2024 Apr 12;11(4):370. doi: 10.3390/bioengineering11040370. Bioengineering (Basel). 2024. PMID: 38671791 Free PMC article.
2,404 results