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

457 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Di Gregorio E, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS. Giorgio E, et al. Among authors: dahl n. Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23649844 Free PMC article.
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update.
Boria I, Garelli E, Gazda HT, Aspesi A, Quarello P, Pavesi E, Ferrante D, Meerpohl JJ, Kartal M, Da Costa L, Proust A, Leblanc T, Simansour M, Dahl N, Fröjmark AS, Pospisilova D, Cmejla R, Beggs AH, Sheen MR, Landowski M, Buros CM, Clinton CM, Dobson LJ, Vlachos A, Atsidaftos E, Lipton JM, Ellis SR, Ramenghi U, Dianzani I. Boria I, et al. Among authors: dahl n. Hum Mutat. 2010 Dec;31(12):1269-79. doi: 10.1002/humu.21383. Hum Mutat. 2010. PMID: 20960466 Free PMC article.
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO. Melberg A, et al. Among authors: dahl n. J Neurol Sci. 1995 Dec;134(1-2):119-29. doi: 10.1016/0022-510x(95)00228-0. J Neurol Sci. 1995. PMID: 8747854
Charcot-marie-tooth disease with cerebellar atrophy.
Melberg A, Raininko R, Dahl N, Olsson Y, Stålberg E. Melberg A, et al. Among authors: dahl n. J Clin Neuromuscul Dis. 2000 Sep;2(1):24-6. doi: 10.1097/00131402-200009000-00007. J Clin Neuromuscul Dis. 2000. PMID: 19078599
457 results