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

80 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.
Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V. Verhoeven K, et al. Among authors: ryniewicz b. Brain. 2006 Aug;129(Pt 8):2093-102. doi: 10.1093/brain/awl126. Epub 2006 May 19. Brain. 2006. PMID: 16714318
L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.
Kabzińska D, Strugalska-Cynowska H, Kostera-Pruszczyk A, Ryniewicz B, Posmyk R, Midro A, Seeman P, Báranková L, Zimoń M, Baets J, Timmerman V, Guergueltcheva V, Tournev I, Sarafov S, De Jonghe P, Jordanova A, Hausmanowa-Petrusewicz I, Kochański A. Kabzińska D, et al. Among authors: ryniewicz b. Neurogenetics. 2010 Jul;11(3):357-66. doi: 10.1007/s10048-010-0237-6. Epub 2010 Mar 16. Neurogenetics. 2010. PMID: 20232219
Mutation Screening of Charcot-Marie-Tooth Patients in Poland.
Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, VAN Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I. Kochański A, et al. Among authors: ryniewicz b. Ann N Y Acad Sci. 1999 Oct;883(1):493-496. doi: 10.1111/j.1749-6632.1999.tb08619.x. Ann N Y Acad Sci. 1999. PMID: 29086975 No abstract available.
A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Kochanski A, Lofgren A, Jedrzejowska H, Ryniewicz B, Czarny-Ratajczak M, Barciszewska A, Samocko J, Hausmanowa-Petrusewicz I, De Jonghe P, Timmerman V, Latos-Bielenska A. Kochanski A, et al. Among authors: ryniewicz b. Hum Mutat. 2001 Feb;17(2):157. doi: 10.1002/1098-1004(200102)17:2<157::AID-HUMU22>3.0.CO;2-E. Hum Mutat. 2001. PMID: 11180613 No abstract available.
Mutation screening of Charcot-Marie-Tooth patients in Poland.
Kochański A, Timmerman V, Jedrzejowska H, Ryniewicz B, Löfgren A, De Vriendt E, Van Broeckhoven C, Latos-Bieleńska A, Hausmanowa-Petrusewicz I. Kochański A, et al. Among authors: ryniewicz b. Ann N Y Acad Sci. 1999 Sep 14;883:493-6. Ann N Y Acad Sci. 1999. PMID: 10586282 No abstract available.
80 results