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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.
Published in:
2021
By:
- Salsench, Eva Medico;
- Maroofian, Reza;
- Deng, Ruizhi;
- Lanko, Kristina;
- Nikoncuk, Anita;
- Pérez, Belén;
- Sánchez-Lijarcio, Obdulia;
- Ibáñez-Mico, Salvador;
- Wojcik, Antonina;
- Vargas, Marcelo;
- Al-Sannaa, Nouriya Abbas;
- Girgis, Marian Y;
- Silveira, Tainá Regina Damaceno;
- Bauer, Peter;
- Schroeder, Audrey;
- Fong, Chin-To;
- Begtrup, Amber;
- Babaei, Meisam;
- Toosi, Mehran Beiraghi;
- Ashrafzadeh, Farah
Publication type:
journal article
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Published in:
2021
By:
- Sanderson, Leslie E;
- Lanko, Kristina;
- Alsagob, Maysoon;
- Almass, Rawan;
- Al-Ahmadi, Nada;
- Najafi, Maryam;
- Al-Muhaizea, Mohammad A;
- Alzaidan, Hamad;
- AlDhalaan, Hesham;
- Perenthaler, Elena;
- Linde, Herma C van der;
- Nikoncuk, Anita;
- Kühn, Nikolas A;
- Antony, Dinu;
- Owaidah, Tarek Mustafa;
- Raskin, Salmo;
- Vieira, Luana Gabriela Dalla Rosa;
- Mombach, Romulo;
- Ahangari, Najmeh;
- Silveira, Tainá Regina Damaceno
Publication type:
journal article
Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.
Published in:
Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00980-1
By:
- Yousefi, Soheil;
- Deng, Ruizhi;
- Lanko, Kristina;
- Salsench, Eva Medico;
- Nikoncuk, Anita;
- van der Linde, Herma C.;
- Perenthaler, Elena;
- van Ham, Tjakko J.;
- Mulugeta, Eskeatnaf;
- Barakat, Tahsin Stefan
Publication type:
Article
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Published in:
Acta Neuropathologica, 2023, v. 146, n. 2, p. 353, doi. 10.1007/s00401-023-02579-9
By:
- Deng, Ruizhi;
- Medico-Salsench, Eva;
- Nikoncuk, Anita;
- Ramakrishnan, Reshmi;
- Lanko, Kristina;
- Kühn, Nikolas A.;
- van der Linde, Herma C.;
- Lor-Zade, Sarah;
- Albuainain, Fatimah;
- Shi, Yuwei;
- Yousefi, Soheil;
- Capo, Ivan;
- van den Herik, Evita Medici;
- van Slegtenhorst, Marjon;
- van Minkelen, Rick;
- Geeven, Geert;
- Mulder, Monique T.;
- Ruijter, George J. G.;
- Lütjohann, Dieter;
- Jacobs, Edwin H.
Publication type:
Article
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Published in:
Acta Neuropathologica, 2020, v. 139, n. 3, p. 415, doi. 10.1007/s00401-019-02109-6
By:
- Perenthaler, Elena;
- Nikoncuk, Anita;
- Yousefi, Soheil;
- Berdowski, Woutje M.;
- Alsagob, Maysoon;
- Capo, Ivan;
- van der Linde, Herma C.;
- van den Berg, Paul;
- Jacobs, Edwin H.;
- Putar, Darija;
- Ghazvini, Mehrnaz;
- Aronica, Eleonora;
- van IJcken, Wilfred F. J.;
- de Valk, Walter G.;
- Medici-van den Herik, Evita;
- van Slegtenhorst, Marjon;
- Brick, Lauren;
- Kozenko, Mariya;
- Kohler, Jennefer N.;
- Bernstein, Jonathan A.
Publication type:
Article

Found: 5

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.