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

275 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Novel variants in CSF1R associated with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Schmitz AS, Raju J, Köhler W, Klebe S, Cheheb K, Reschke F, Biskup S, Haack TB, Roeben B, Kellner M, Rahner N, Bloch T, Lemke J, Bender B, Schöls L, Hengel H, Hayer SN. Schmitz AS, et al. Among authors: kellner m. J Neurol. 2024 Sep;271(9):6025-6037. doi: 10.1007/s00415-024-12557-0. Epub 2024 Jul 20. J Neurol. 2024. PMID: 39031193 Free PMC article.
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Among authors: kellner m. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Among authors: kellner m. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238
i-PI 3.0: A flexible and efficient framework for advanced atomistic simulations.
Litman Y, Kapil V, Feldman YMY, Tisi D, Begušić T, Fidanyan K, Fraux G, Higer J, Kellner M, Li TE, Pós ES, Stocco E, Trenins G, Hirshberg B, Rossi M, Ceriotti M. Litman Y, et al. Among authors: kellner m. J Chem Phys. 2024 Aug 14;161(6):062504. doi: 10.1063/5.0215869. J Chem Phys. 2024. PMID: 39140447
Brain morphometry and estimation of aging brain in subjects with congenital untreated isolated GH deficiency.
Villar-Gouy KR, Salmon CEG, Salvatori R, Kellner M, Krauss MPO, Rocha TO, de Souza EA, Batista VO, Leal ÂC, Santos LB, Melo EV, Oliveira-Santos AA, Oliveira CRP, Campos VC, Santos EG, Santana NO, Pereira FA, Amorim RS, Donato-Junior J, Filho JASB, Santos AC, Aguiar-Oliveira MH. Villar-Gouy KR, et al. Among authors: kellner m. J Endocrinol Invest. 2024 Apr 16. doi: 10.1007/s40618-024-02372-9. Online ahead of print. J Endocrinol Invest. 2024. PMID: 38627331
Crimean-Congo haemorrhagic fever virus uses LDLR to bind and enter host cells.
Monteil VM, Wright SC, Dyczynski M, Kellner MJ, Appelberg S, Platzer SW, Ibrahim A, Kwon H, Pittarokoilis I, Mirandola M, Michlits G, Devignot S, Elder E, Abdurahman S, Bereczky S, Bagci B, Youhanna S, Aastrup T, Lauschke VM, Salata C, Elaldi N, Weber F, Monserrat N, Hawman DW, Feldmann H, Horn M, Penninger JM, Mirazimi A. Monteil VM, et al. Among authors: kellner mj. Nat Microbiol. 2024 Jun;9(6):1499-1512. doi: 10.1038/s41564-024-01672-3. Epub 2024 Mar 28. Nat Microbiol. 2024. PMID: 38548922 Free PMC article.
Cognitive performance during senescence in untreated congenital isolated GH deficiency.
Batista VO, Kellner M, Salvatori R, Lisboa W, Faro A, Santos LB, Melo EV, Oliveira-Santos AA, Oliveira CRP, Campos VC, Barros-Oliveira CS, Santos EG, Santana NO, Villar-Gouy KR, Leal ÂC, Amorim RS, Oliveira Simões DA, Aguiar-Oliveira MH. Batista VO, et al. Among authors: kellner m. Endocr Connect. 2023 Dec 21;13(1):e230401. doi: 10.1530/EC-23-0401. Print 2024 Jan 1. Endocr Connect. 2023. PMID: 38019109 Free PMC article.
275 results