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Page 1
Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.
Livingston JH, Mayer J, Jenkinson E, Kasher P, Stivaros S, Berger A, Cordelli DM, Ferreira P, Jefferson R, Kutschke G, Lundberg S, Ounap K, Prabhakar P, Soh C, Stewart H, Stone J, van der Knaap MS, van Esch H, van Mol C, Wakeling E, Whitney A, Rice GI, Crow YJ. Livingston JH, et al. Among authors: ferreira p. Neuropediatrics. 2014 Jun;45(3):175-82. doi: 10.1055/s-0033-1364180. Epub 2014 Jan 9. Neuropediatrics. 2014. PMID: 24407470
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: ferreira p. Nat Genet. 2016 Oct;48(10):1185-92. doi: 10.1038/ng.3661. Epub 2016 Aug 29. Nat Genet. 2016. PMID: 27571260 Free PMC article.
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ. Anderson BH, et al. Among authors: ferreira p. Nat Genet. 2012 Jan 22;44(3):338-42. doi: 10.1038/ng.1084. Nat Genet. 2012. PMID: 22267198 Free article.
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS. Kevelam SH, et al. Among authors: ferreira p. Neurology. 2013 Apr 23;80(17):1577-83. doi: 10.1212/WNL.0b013e31828f1914. Epub 2013 Apr 3. Neurology. 2013. PMID: 23553477 Free PMC article.
Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
Jenkinson EM, Rodero MP, Kasher PR, Uggenti C, Oojageer A, Goosey LC, Rose Y, Kershaw CJ, Urquhart JE, Williams SG, Bhaskar SS, O'Sullivan J, Baerlocher GM, Haubitz M, Aubert G, Barañano KW, Barnicoat AJ, Battini R, Berger A, Blair EM, Brunstrom-Hernandez JE, Buckard JA, Cassiman DM, Caumes R, Cordelli DM, De Waele LM, Fay AJ, Ferreira P, Fletcher NA, Fryer AE, Goel H, Hemingway CA, Henneke M, Hughes I, Jefferson RJ, Kumar R, Lagae L, Landrieu PG, Lourenço CM, Malpas TJ, Mehta SG, Metz I, Naidu S, Õunap K, Panzer A, Prabhakar P, Quaghebeur G, Schiffmann R, Sherr EH, Sinnathuray KR, Soh C, Stewart HS, Stone J, Van Esch H, Van Mol CE, Vanderver A, Wakeling EL, Whitney A, Pavitt GD, Griffiths-Jones S, Rice GI, Revy P, van der Knaap MS, Livingston JH, O'Keefe RT, Crow YJ. Jenkinson EM, et al. Among authors: ferreira p. Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b. Nat Genet. 2017. PMID: 28138155 No abstract available.
MRI as diagnostic tool in early-onset peroxisomal disorders.
van der Knaap MS, Wassmer E, Wolf NI, Ferreira P, Topçu M, Wanders RJ, Waterham HR, Ferdinandusse S. van der Knaap MS, et al. Among authors: ferreira p. Neurology. 2012 Apr 24;78(17):1304-8. doi: 10.1212/WNL.0b013e31825182dc. Epub 2012 Mar 28. Neurology. 2012. PMID: 22459681 Free article.
Land Use Change Consistently Reduces α- But Not β- and γ-Diversity of Bees.
Tsang TPN, De Santis AAA, Armas-Quiñonez G, Ascher JS, Ávila-Gómez ES, Báldi A, Ballare KM, Balzan MV, Banaszak-Cibicka W, Bänsch S, Basset Y, Bates AJ, Baumann JM, Beal-Neves M, Bennett A, Bezerra ADM, Blochtein B, Bommarco R, Brosi B, Burkle LA, Carvalheiro LG, Castellanos I, Cely-Santos M, Cohen H, Coulibaly D, Cunningham SA, Cusser S, Dajoz I, Delaney DA, Del-Val E, Egerer M, Eichhorn MP, Enríquez E, Entling MH, Escobedo-Kenefic N, Ferreira PMA, Fitch G, Forrest JRK, Fournier V, Fowler R, Freitas BM, Gaines-Day HR, Geslin B, Ghazoul J, Glaum P, Gonzalez-Andujar JL, González-Chaves A, Grab H, Gratton C, Guenat S, Gutiérrez-Chacón C, Hall MA, Hanley ME, Hass A, Hennig EI, Hermy M, Hipólito J, Holzschuh A, Hopfenmüller S, Hung KJ, Hylander K, Izquierdo J, Jamieson MA, Jauker B, Javorek S, Jha S, Klatt BK, Kleijn D, Klein AM, Kovács-Hostyánszki A, Krauss J, Kuhlmann M, Landaverde-González P, Latty T, Leong M, Lerman SB, Liu Y, Machado ACP, Main A, Mallinger R, Mandelik Y, Marques BF, Matteson K, McCune F, Meng LZ, Metzger JP, Montoya-Pfeiffer PM, Morales C, Morandin L, Morrison J, Mudri-Stojnić S, Nalinrachatakan P, Norfolk O, Otieno M, Park MG, Philpott SM, Pisanty G, Plas… See abstract for full author list ➔ Tsang TPN, et al. Among authors: ferreira pma. Glob Chang Biol. 2025 Jan;31(1):e70006. doi: 10.1111/gcb.70006. Glob Chang Biol. 2025. PMID: 39754379
Diabetes Remission After Bariatric Surgery: A 10-Year Follow-Up Study.
Meira I, Menino J, Ferreira P, Leite AR, Gonçalves J, Ferreira HU, Ribeiro S, Moreno T, Silva DF, Pedro J, Varela A, Souto S, Freitas P, da Costa EL, Queirós J, Group C. Meira I, et al. Among authors: ferreira p. Obes Surg. 2024 Dec 23. doi: 10.1007/s11695-024-07592-9. Online ahead of print. Obes Surg. 2024. PMID: 39715944
2,463 results