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Page 1
Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel CF, Lerner-Ellis J, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann APA, van der Schoot V, Brunet T, Bußmann C, Mignot C, Zampino G, Wortmann SB, Mayr JA, Feichtinger RG, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: macmurdo c. Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077. Online ahead of print. Ann Neurol. 2024. PMID: 39301775
The Perfect Storm: A Case of Rapid-Onset Obesity With Hypoventilation, Hypothalamic, Autonomic Dysregulation, Neuroendocrine Tumor (ROHHADNET) With Heart Failure, Narcolepsy, and a Rare Location of a Pelvic Neuroendocrine Tumor.
Roby P, Smith Beltran G, Finch C, Malhotra S, Reiling K, Dayyat E, Birkemeier K, Raju M, Macmurdo C, Hernandez E, Sagar M. Roby P, et al. Among authors: macmurdo c. Cureus. 2023 Dec 11;15(12):e50341. doi: 10.7759/cureus.50341. eCollection 2023 Dec. Cureus. 2023. PMID: 38205461 Free PMC article.
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder.
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T. Blackburn PR, et al. Among authors: macmurdo c. medRxiv [Preprint]. 2023 Jun 16:2023.06.13.23290941. doi: 10.1101/2023.06.13.23290941. medRxiv. 2023. Update in: Ann Neurol. 2024 Sep 20. doi: 10.1002/ana.27077 PMID: 37398376 Free PMC article. Updated. Preprint.
Expanding the clinical and genetic spectrum of PCYT2-related disorders.
Vélez-Santamaría V, Verdura E, Macmurdo C, Planas-Serra L, Schlüter A, Casas J, Martínez JJ, Casasnovas C, Si Y, Thompson SS, Maroofian R, Pujol A. Vélez-Santamaría V, et al. Among authors: macmurdo c. Brain. 2020 Sep 1;143(9):e76. doi: 10.1093/brain/awaa229. Brain. 2020. PMID: 32889549 No abstract available.
15 results