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1.

The T-locus - inspiration and distraction?

Erickson, Robert P.

Bioessays; : e2400021, 2024 Mar 25.

Artículo en Inglés | MEDLINE | ID: mdl-38528317

2.

The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.

Fiorenza, Maria Teresa; La Rosa, Piergiorgio; Canterini, Sonia; Erickson, Robert P.

Cerebellum; 22(1): 102-119, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-35040097

3.

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation.

Fiorenza, Maria Teresa; Moro, Enrico; Erickson, Robert P.

Hum Mol Genet; 27(R2): R119-R129, 2018 08 01.

Artículo en Inglés | MEDLINE | ID: mdl-29718288

4.

A new kind of embryonic field?

Erickson, Robert P.

Dev Biol; 499: 22-23, 2023 07.

Artículo en Inglés | MEDLINE | ID: mdl-37149123

5.

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Canterini, Sonia; Dragotto, Jessica; Dardis, Andrea; Zampieri, Stefania; De Stefano, Maria Egle; Mangia, Franco; Erickson, Robert P; Fiorenza, Maria Teresa.

Hum Mol Genet; 26(12): 2277-2289, 2017 06 15.

Artículo en Inglés | MEDLINE | ID: mdl-28379564

6.

Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.

Erickson, Robert P; Lai, Li-Wen; Mustacich, Debbie J; Bernas, Michael J; Kuo, Phillip H; Witte, Marlys H.

Clin Genet; 96(5): 478-482, 2019 11.

Artículo en Inglés | MEDLINE | ID: mdl-31403174

7.

Pediatric Cytochrome P450 Activity Alterations in Nonalcoholic Steatohepatitis.

Li, Hui; Canet, Mark J; Clarke, John D; Billheimer, Dean; Xanthakos, Stavra A; Lavine, Joel E; Erickson, Robert P; Cherrington, Nathan J.

Drug Metab Dispos; 45(12): 1317-1325, 2017 12.

Artículo en Inglés | MEDLINE | ID: mdl-28986475

8.

A Mentor's perspective: It's not all about academic research-other careers for Ph. D.s in developmental biology and biological sciences.

Erickson, Robert P.

Dev Biol; 459(1): 2-4, 2020 03 01.

Artículo en Inglés | MEDLINE | ID: mdl-31639335

9.

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Veeramah, Krishna R; O'Brien, Janelle E; Meisler, Miriam H; Cheng, Xiaoyang; Dib-Hajj, Sulayman D; Waxman, Stephen G; Talwar, Dinesh; Girirajan, Santhosh; Eichler, Evan E; Restifo, Linda L; Erickson, Robert P; Hammer, Michael F.

Am J Hum Genet; 90(3): 502-10, 2012 Mar 09.

Artículo en Inglés | MEDLINE | ID: mdl-22365152

10.

Altered regulation of hepatic efflux transporters disrupts acetaminophen disposition in pediatric nonalcoholic steatohepatitis.

Canet, Mark J; Merrell, Matthew D; Hardwick, Rhiannon N; Bataille, Amy M; Campion, Sarah N; Ferreira, Daniel W; Xanthakos, Stavra A; Manautou, Jose E; A-Kader, H Hesham; Erickson, Robert P; Cherrington, Nathan J.

Drug Metab Dispos; 43(6): 829-35, 2015 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-25788542

11.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Maue, Robert A; Burgess, Robert W; Wang, Bing; Wooley, Christine M; Seburn, Kevin L; Vanier, Marie T; Rogers, Maximillian A; Chang, Catherine C; Chang, Ta-Yuan; Harris, Brent T; Graber, David J; Penatti, Carlos A A; Porter, Donna M; Szwergold, Benjamin S; Henderson, Leslie P; Totenhagen, John W; Trouard, Theodore P; Borbon, Ivan A; Erickson, Robert P.

Hum Mol Genet; 21(4): 730-50, 2012 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-22048958

12.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Saadi, Irfan; Alkuraya, Fowzan S; Gisselbrecht, Stephen S; Goessling, Wolfram; Cavallesco, Resy; Turbe-Doan, Annick; Petrin, Aline L; Harris, James; Siddiqui, Ursela; Grix, Arthur W; Hove, Hanne D; Leboulch, Philippe; Glover, Thomas W; Morton, Cynthia C; Richieri-Costa, Antonio; Murray, Jeffrey C; Erickson, Robert P; Maas, Richard L.

Am J Hum Genet; 89(1): 44-55, 2011 Jul 15.

Artículo en Inglés | MEDLINE | ID: mdl-21703590

13.

Dysregulation of testicular cholesterol metabolism following spontaneous mutation of the niemann-pick c1 gene in mice.

Akpovi, Casimir D; Murphy, Bruce D; Erickson, Robert P; Pelletier, R-Marc.

Biol Reprod; 91(2): 42, 2014 Aug.

Artículo en Inglés | MEDLINE | ID: mdl-25009206

14.

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Sargent, Carole; Bauer, Julien; Khalil, Muhamed; Filmore, Parker; Bernas, Michael; Witte, Marlys; Pearson, M Peggy; Erickson, Robert P.

Am J Med Genet A; 164A(11): 2802-7, 2014 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-25252123

15.

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

Tischfield, Max A; Bosley, Thomas M; Salih, Mustafa A M; Alorainy, Ibrahim A; Sener, Emin C; Nester, Michael J; Oystreck, Darren T; Chan, Wai-Man; Andrews, Caroline; Erickson, Robert P; Engle, Elizabeth C.

Nat Genet; 37(10): 1035-7, 2005 Oct.

Artículo en Inglés | MEDLINE | ID: mdl-16155570

16.

A hopeful therapy for Niemann-Pick C diseases.

Erickson, Robert P; Fiorenza, Maria Teresa.

Lancet; 390(10104): 1720-1721, 2017 10 14.

Artículo en Inglés | MEDLINE | ID: mdl-28803711

17.

(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.

Totenhagen, John W; Yoshimaru, Eriko S; Erickson, Robert P; Trouard, Theodore P.

J Magn Reson Imaging; 37(5): 1195-201, 2013 May.

Artículo en Inglés | MEDLINE | ID: mdl-23165972

18.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Veeramah, Krishna R; Johnstone, Laurel; Karafet, Tatiana M; Wolf, Daniel; Sprissler, Ryan; Salogiannis, John; Barth-Maron, Asa; Greenberg, Michael E; Stuhlmann, Till; Weinert, Stefanie; Jentsch, Thomas J; Pazzi, Marjorie; Restifo, Linda L; Talwar, Dinesh; Erickson, Robert P; Hammer, Michael F.

Epilepsia; 54(7): 1270-81, 2013 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-23647072

19.

Acute cholangitis following mRNA COVID-19 vaccine booster in a patient receiving an anti-amyloid antibody for Alzheimer's disease: A case report.

Restifo, Linda L; Erickson, Robert P.

SAGE Open Med Case Rep; 11: 2050313X231194507, 2023.

Artículo en Inglés | MEDLINE | ID: mdl-37654545

20.

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).

Kylat, Ranjit I; Stanley, Kelly; Simon, Sarah; Erickson, Robert P.

J Appl Genet; 64(1): 141-144, 2023 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-36175752

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The T-locus - inspiration and distraction?

The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.

The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation.

A new kind of embryonic field?

Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease.

Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.

Pediatric Cytochrome P450 Activity Alterations in Nonalcoholic Steatohepatitis.

A Mentor's perspective: It's not all about academic research-other careers for Ph. D.s in developmental biology and biological sciences.

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Altered regulation of hepatic efflux transporters disrupts acetaminophen disposition in pediatric nonalcoholic steatohepatitis.

A novel mouse model of Niemann-Pick type C disease carrying a D1005G-Npc1 mutation comparable to commonly observed human mutations.

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.

Dysregulation of testicular cholesterol metabolism following spontaneous mutation of the niemann-pick c1 gene in mice.

A five generation family with a novel mutation in FOXC2 and lymphedema worsening to hydrops in the youngest generation.

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

A hopeful therapy for Niemann-Pick C diseases.

(1) H magnetic resonance spectroscopy of neurodegeneration in a mouse model of niemann-pick type C1 disease.

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

Acute cholangitis following mRNA COVID-19 vaccine booster in a patient receiving an anti-amyloid antibody for Alzheimer's disease: A case report.

Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).