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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
Published in:
2017
By:
- Niturad, Cristina Elena;
- Lev, Dorit;
- Kalscheuer, Vera M.;
- Charzewska, Agnieszka;
- Schubert, Julian;
- Lerman-Sagie, Tally;
- Kroes, Hester Y.;
- Oegema, Renske;
- Traverso, Monica;
- Specchio, Nicola;
- Lassota, Maria;
- Chelly, Jamel;
- Bennett-Back, Odeya;
- Carmi, Nirit;
- Koffler-Brill, Tal;
- Iacomino, Michele;
- Trivisano, Marina;
- Capovilla, Giuseppe;
- Striano, Pasquale;
- Nawara, Magdalena
Publication type:
journal article
Expanding the phenotype associated with missense mutations of the ARX gene.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1813, doi. 10.1002/ajmg.a.36003
By:
- Charzewska, Agnieszka;
- Nawara, Magdalena;
- Jakubiuk‐Tomaszuk, Anna;
- Obersztyn, Ewa;
- Hoffman‐Zacharska, Dorota;
- Elert, Ewelina;
- Jurek, Marta;
- Bartnik, Magdalena;
- Poznański, Jarosław;
- Bal, Jerzy
Publication type:
Article
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 6, p. 645, doi. 10.1038/ejhg.2011.261
By:
- Klebe, Stephan;
- Lossos, Alexander;
- Azzedine, Hamid;
- Mundwiller, Emeline;
- Sheffer, Ruth;
- Gaussen, Marion;
- Marelli, Cecilia;
- Nawara, Magdalena;
- Carpentier, Wassila;
- Meyer, Vincent;
- Rastetter, Agnès;
- Martin, Elodie;
- Bouteiller, Delphine;
- Orlando, Laurent;
- Gyapay, Gabor;
- El-Hachimi, Khalid H;
- Zimmerman, Batel;
- Gamliel, Moriya;
- Misk, Adel;
- Lerer, Israela
Publication type:
Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
By:
- Carvalho, Claudia M.B.;
- Zhang, Feng;
- Liu, Pengfei;
- Patel, Ankita;
- Sahoo, Trilochan;
- Bacino, Carlos A.;
- Shaw, Chad;
- Peacock, Sandra;
- Pursley, Amber;
- Tavyev, Y. Jane;
- Ramocki, Melissa B.;
- Nawara, Magdalena;
- Obersztyn, Ewa;
- Vianna-Morgante, Angela M.;
- Stankiewicz, Pawel;
- Zoghbi, Huda Y.;
- Cheung, Sau Wai;
- Lupski, James R.
Publication type:
Article
Aerobic and anaerobic NAD<sup>+</sup> metabolism in Saccharomyces cerevisiae
Published in:
FEBS Letters, 2002, v. 517, n. 1-3, p. 97, doi. 10.1016/S0014-5793(02)02585-1
By:
- Panozzo, Cristina;
- Nawara, Magdalena;
- Suski, Catherine;
- Kucharczyka, Roza;
- Skoneczny, Marek;
- Bécam, Anne-Marie;
- Rytka, Joanna;
- Herbert, Christopher J.
Publication type:
Article

Found: 5

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.

Expanding the phenotype associated with missense mutations of the ARX gene.

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.

Aerobic and anaerobic NAD<sup>+</sup> metabolism in Saccharomyces cerevisiae