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The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins
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The ALS-linked E102Q mutation in Sigma receptor-1 leads to ER stress-mediated defects in protein homeostasis and dysregulation of RNA-binding proteins

Dreser, Alice ; Vollrath, Jan Tilmann ; Sechi, Antonio ; Johann, Sonja ; Roos, Andreas ; Yamoah, Alfred ; Katona, Istvan ; Bohlega, Saeed ; Wiemuth, Dominik ; Tian, Yuemin ; Schmidt, Axel ; Vervoorts, Jörg ; Dohmen, Marc ; Beyer, Cordian ; Anink, Jasper ; Aronica, Eleonora ; Troost, Dirk ; Weis, Joachim ; Goswami, Anand

Cell death and differentiation, 2017-10, Vol.24 (10), p.1655-1671 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease
Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease
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Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease

Yemni, Eman Al ; Monies, Dorota ; Alkhairallah, Thamer ; Bohlega, Saeed ; Abouelhoda, Mohamed ; Magrashi, Amna ; Mustafa, Abeer ; AlAbdulaziz, Basma ; Alhamed, Mohamed ; Baz, Batoul ; Goljan, Ewa ; Albar, Renad ; Jabaan, Amjad ; Faquih, Tariq ; Subhani, Shazia ; Ali, Wafa ; Shinwari, Jameela ; Al-Mubarak, Bashayer ; Al-Tassan, Nada

Scientific reports, 2019-03, Vol.9 (1), p.3344-3344, Article 3344 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues
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Mutation of fibulin-1 causes a novel syndrome involving the central nervous system and connective tissues

Bohlega, Saeed ; Al-Ajlan, Huda ; Al-Saif, Amr

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.640-643 [Periódico revisado por pares]

England: Nature Publishing Group

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4
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families
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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

AlAbdi, Lama ; Maddirevula, Sateesh ; Shamseldin, Hanan E. ; Khouj, Ebtissal ; Helaby, Rana ; Hamid, Halima ; Almulhim, Aisha ; Hashem, Mais O. ; Abdulwahab, Firdous ; Abouyousef, Omar ; Alqahtani, Mashael ; Altuwaijri, Norah ; Jaafar, Amal ; Alshidi, Tarfa ; Alzahrani, Fatema ; Al-Sagheir, Afaf I. ; Mansour, Ahmad M. ; Alawaji, Ali ; Aldhilan, Amal ; Alhashem, Amal ; Alhemidan, Amal ; Nabil, Amira ; Khan, Arif O. ; Aljohar, Aziza ; Alsaleem, Badr ; Tabarki, Brahim ; Lourenco, Charles Marques ; Faqeih, Eissa ; AlShail, Essam ; Almesaifri, Fatima ; Mutairi, Fuad Al ; Alzaidan, Hamad ; Morsy, Heba ; Alshihry, Hind ; Alkuraya, Hisham ; Girisha, Katta Mohan ; Al-Fayez, Khawla ; Al-Rubeaan, Khalid ; kraoua, Lilia ; Alnemer, Maha ; Tulbah, Maha ; Zaki, Maha S. ; Alfadhel, Majid ; Abouelhoda, Mohammed ; Nezarati, Marjan M. ; Al-Qattan, Mohammad ; Shboul, Mohammad ; Abanemai, Mohammed ; Al-Muhaizea, Mohammad A. ; Al-owain, Mohammed ; Bafaqeeh, Mohammed Sameer ; Alshammari, Muneera ; Abukhalid, Musaad ; Alsahan, Nada ; Derar, Nada ; Meriki, Neama ; Bohlega, Saeed A. ; Tala, Saeed Al ; Alhassan, Saad ; Wali, Sami ; Mohamed, Sarar ; Coskun, Serdar ; Saadeh, Sermin ; Tkemaladze, Tinatin ; Kurdi, Wesam ; Alhumaidi, Zainab Ahmed ; Rahbeeni, Zuhair ; Alkuraya, Fowzan S.

Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269 [Periódico revisado por pares]

London: Nature Publishing Group

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5
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis
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Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis

Dobson-Stone, C ; Danek, A ; Rampoldi, L ; Hardie, R J ; Chalmers, R M ; Wood, N W ; Bohlega, S ; Dotti, M T ; Federico, A ; Shizuka, M ; Tanaka, M ; Watanabe, M ; Ikeda, Y ; Brin, M ; Goldfarb, L G ; Karp, B I ; Mohiddin, S ; Fananapazir, L ; Storch, A ; Fryer, A E ; Maddison, P ; Sibon, I ; Trevisol-Bittencourt, P C ; Singer, C ; Caballero, I R ; Aasly, J O ; Schmierer, K ; Dengler, R ; Hiersemenzel, L-P ; Zeviani, M ; Meiner, V ; Lossos, A ; Johnson, S ; Mercado, F C ; Sorrentino, G ; Dupré, N ; Rouleau, G A ; Volkmann, J ; Arpa, J ; Lees, A ; Geraud, G ; Chouinard, S ; Németh, A ; Monaco, A P

European journal of human genetics : EJHG, 2002-11, Vol.10 (11), p.773-781 [Periódico revisado por pares]

England: Nature Publishing Group

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