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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

115 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Galanin pathogenic mutations in temporal lobe epilepsy.
Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel Ü, Antonarakis SE. Guipponi M, et al. Hum Mol Genet. 2015 Jun 1;24(11):3082-91. doi: 10.1093/hmg/ddv060. Epub 2015 Feb 17. Hum Mol Genet. 2015. PMID: 25691535
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A. Salzmann A, et al. Among authors: guipponi m. Hum Mutat. 2012 Jan;33(1):124-35. doi: 10.1002/humu.21613. Epub 2011 Oct 31. Hum Mutat. 2012. PMID: 21922598
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A. Giorgio E, et al. Among authors: guipponi m. Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20. Hum Mol Genet. 2015. PMID: 25701871 Free PMC article.
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.
Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. Among authors: guipponi m. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186
Next generation diagnostics on cardiomyopathy.
Blouin JL, Bevillard J, Makrythanasis P, Guipponi M, Santoni F, Antonarakis SE, Fokstuen S. Blouin JL, et al. Among authors: guipponi m. Mol Cytogenet. 2014 Jan 21;7(Suppl 1 Proceedings of the International Conference on Human):I4. doi: 10.1186/1755-8166-7-S1-I4. eCollection 2014. Mol Cytogenet. 2014. PMID: 24949098 Free PMC article. No abstract available.
115 results