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

183 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C, Zhu PP, Leonardis L, Papić L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M. Guelly C, et al. Among authors: janecke ar. Am J Hum Genet. 2011 Jan 7;88(1):99-105. doi: 10.1016/j.ajhg.2010.12.003. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194679 Free PMC article.
Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.
Rohkamm B, Reilly MM, Lochmüller H, Schlotter-Weigel B, Barisic N, Schöls L, Nicholson G, Pareyson D, Laurà M, Janecke AR, Miltenberger-Miltenyi G, John E, Fischer C, Grill F, Wakeling W, Davis M, Pieber TR, Auer-Grumbach M. Rohkamm B, et al. Among authors: janecke ar. J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30. J Neurol Sci. 2007. PMID: 17663003 Free PMC article.
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR. Auer-Grumbach M, et al. Among authors: janecke ar. Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085. Neuropediatrics. 2008. PMID: 18504680 Free PMC article.
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR. Heinz-Erian P, et al. Among authors: janecke ar. Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29. Am J Hum Genet. 2009. PMID: 19185281 Free PMC article.
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: janecke ar. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.
SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.
Papić L, Fischer D, Trajanoski S, Höftberger R, Fischer C, Ströbel T, Schmidt WM, Bittner RE, Schabhüttl M, Gruber K, Pieber TR, Janecke AR, Auer-Grumbach M. Papić L, et al. Among authors: janecke ar. Eur J Med Genet. 2011 May-Jun;54(3):214-9. doi: 10.1016/j.ejmg.2010.12.003. Epub 2010 Dec 21. Eur J Med Genet. 2011. PMID: 21172462 Free PMC article.
183 results