Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

71 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: dallman j. Nat Genet. 2020 Jun;52(6):640. doi: 10.1038/s41588-020-0649-7. Nat Genet. 2020. PMID: 32457452
Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa.
Züchner S, Dallman J, Wen R, Beecham G, Naj A, Farooq A, Kohli MA, Whitehead PL, Hulme W, Konidari I, Edwards YJ, Cai G, Peter I, Seo D, Buxbaum JD, Haines JL, Blanton S, Young J, Alfonso E, Vance JM, Lam BL, Peričak-Vance MA. Züchner S, et al. Among authors: dallman j. Am J Hum Genet. 2011 Feb 11;88(2):201-6. doi: 10.1016/j.ajhg.2011.01.001. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295283 Free PMC article.
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE. Abrams AJ, et al. Among authors: dallman je. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13. Nat Genet. 2015. PMID: 26168012 Free PMC article.
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S. Rebelo AP, et al. Among authors: dallman je. Am J Hum Genet. 2016 Apr 7;98(4):597-614. doi: 10.1016/j.ajhg.2016.02.022. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040688 Free PMC article.
Zebrafish: A Pharmacogenetic Model for Anesthesia.
Bedell V, Buglo E, Marcato D, Pylatiuk C, Mikut R, Stegmaier J, Scudder W, Wray M, Züchner S, Strähle U, Peravali R, Dallman JE. Bedell V, et al. Among authors: dallman je. Methods Enzymol. 2018;602:189-209. doi: 10.1016/bs.mie.2018.02.004. Epub 2018 Mar 15. Methods Enzymol. 2018. PMID: 29588029 Free PMC article.
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Cortese A, Zhu Y, Rebelo AP, Negri S, Courel S, Abreu L, Bacon CJ, Bai Y, Bis-Brewer DM, Bugiardini E, Buglo E, Danzi MC, Feely SME, Athanasiou-Fragkouli A, Haridy NA; Inherited Neuropathy Consortium; Isasi R, Khan A, Laurà M, Magri S, Pipis M, Pisciotta C, Powell E, Rossor AM, Saveri P, Sowden JE, Tozza S, Vandrovcova J, Dallman J, Grignani E, Marchioni E, Scherer SS, Tang B, Lin Z, Al-Ajmi A, Schüle R, Synofzik M, Maisonobe T, Stojkovic T, Auer-Grumbach M, Abdelhamed MA, Hamed SA, Zhang R, Manganelli F, Santoro L, Taroni F, Pareyson D, Houlden H, Herrmann DN, Reilly MM, Shy ME, Zhai RG, Zuchner S. Cortese A, et al. Among authors: dallman j. Nat Genet. 2020 May;52(5):473-481. doi: 10.1038/s41588-020-0615-4. Epub 2020 May 4. Nat Genet. 2020. PMID: 32367058 Free PMC article.
Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia.
Venincasa MJ, Randlett O, Sumathipala SH, Bindernagel R, Stark MJ, Yan Q, Sloan SA, Buglo E, Meng QC, Engert F, Züchner S, Kelz MB, Syed S, Dallman JE. Venincasa MJ, et al. Among authors: dallman je. Sci Rep. 2021 Feb 4;11(1):3148. doi: 10.1038/s41598-021-82342-w. Sci Rep. 2021. PMID: 33542258 Free PMC article.
71 results