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

495 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia.
Delle Vedove A, Natarajan J, Zanni G, Eckenweiler M, Muiños-Bühl A, Storbeck M, Guillén Boixet J, Barresi S, Pizzi S, Hölker I, Körber F, Franzmann TM, Bertini ES, Kirschner J, Alberti S, Tartaglia M, Wirth B. Delle Vedove A, et al. Among authors: kirschner j. Cell Mol Life Sci. 2022 Sep 22;79(10):526. doi: 10.1007/s00018-022-04544-3. Cell Mol Life Sci. 2022. PMID: 36136249 Free PMC article.
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T; SMA Care Group. Mercuri E, et al. Among authors: kirschner j. Neuromuscul Disord. 2018 Feb;28(2):103-115. doi: 10.1016/j.nmd.2017.11.005. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29290580 Free article. Review.
Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics.
Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T; SMA Care group. Finkel RS, et al. Among authors: kirschner j. Neuromuscul Disord. 2018 Mar;28(3):197-207. doi: 10.1016/j.nmd.2017.11.004. Epub 2017 Nov 23. Neuromuscul Disord. 2018. PMID: 29305137 Free article.
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Karakaya M, et al. Among authors: kirschner j. Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25. Hum Mutat. 2018. PMID: 29858556
Discrepancy in redetermination of SMN2 copy numbers in children with SMA.
Schorling DC, Becker J, Pechmann A, Langer T, Wirth B, Kirschner J. Schorling DC, et al. Among authors: kirschner j. Neurology. 2019 Aug 6;93(6):267-269. doi: 10.1212/WNL.0000000000007836. Epub 2019 Jun 24. Neurology. 2019. PMID: 31235659 No abstract available.
495 results