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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 3
2006 3
2007 2
2008 1
2009 3
2010 3
2011 2
2012 7
2013 9
2014 4
2015 11
2016 3
2017 1
2018 4
2019 5
2020 3
2021 6
2022 6
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

68 results

Results by year

Filters applied: . Clear all
Page 1
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
Calame DG, Herman I, Maroofian R, Marshall AE, Donis KC, Fatih JM, Mitani T, Du H, Grochowski CM, Sousa SB, Gijavanekar C, Bakhtiari S, Ito YA, Rocca C, Hunter JV, Sutton VR, Emrick LT, Boycott KM, Lossos A, Fellig Y, Prus E, Kalish Y, Meiner V, Suerink M, Ruivenkamp C, Muirhead K, Saadi NW, Zaki MS, Bouman A, Barakat TS, Skidmore DL, Osmond M, Silva TO, Murphy D, Karimiani EG, Jamshidi Y, Jaddoa AG, Tajsharghi H, Jin SC, Abbaszadegan MR, Ebrahimzadeh-Vesal R, Hosseini S, Alavi S, Bahreini A, Zarean E, Salehi MM, Al-Sannaa NA, Zifarelli G, Bauer P, Robson SC, Coban-Akdemir Z, Travaglini L, Nicita F, Jhangiani SN, Gibbs RA, Posey JE, Kruer MC, Kernohan KD, Morales Saute JA, Houlden H, Vanderver A, Elsea SH, Pehlivan D, Marafi D, Lupski JR. Calame DG, et al. Among authors: fellig y. Ann Neurol. 2022 Aug;92(2):304-321. doi: 10.1002/ana.26381. Epub 2022 May 28. Ann Neurol. 2022. PMID: 35471564 Free PMC article.
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, Staples J, Magal N, Shuldiner AR, Mitchell BD, Nevo Y, Pollin TI, Gonzaga-Jauregui C, Basel-Salmon L. Salzer-Sheelo L, et al. Among authors: fellig y. Eur J Neurol. 2022 Apr;29(4):1174-1180. doi: 10.1111/ene.15218. Epub 2022 Jan 7. Eur J Neurol. 2022. PMID: 34935254
Abundance of P-glycoprotein and Breast Cancer Resistance Protein Measured by Targeted Proteomics in Human Epileptogenic Brain Tissue.
Brukner AM, Billington S, Benifla M, Nguyen TB, Han H, Bennett O, Gilboa T, Blatch D, Fellig Y, Volkov O, Unadkat JD, Ekstein D, Eyal S. Brukner AM, et al. Among authors: fellig y. Mol Pharm. 2021 Jun 7;18(6):2263-2273. doi: 10.1021/acs.molpharmaceut.1c00083. Epub 2021 May 19. Mol Pharm. 2021. PMID: 34008992 Free PMC article.
Multi-system neurological disorder associated with a CRYAB variant.
Sadeh M, Rahat D, Meiner V, Fellig Y, Arad M, Schueler-Furman O, Hu Y, Li Y, Bönnemann CG, Lossos A. Sadeh M, et al. Among authors: fellig y. Neurogenetics. 2021 May;22(2):117-125. doi: 10.1007/s10048-021-00640-x. Epub 2021 Apr 3. Neurogenetics. 2021. PMID: 33811585
68 results