Not logged inThe evolution of eukaryotic linear motifs governing the function of androgen receptor from fish to Homo sapiens
Falconieri, Antonella; Boarolo, Giulia; Boschelle, Chiara; Spagnolli, Giovanni; Marchioretti, Caterina; Zuccaro, Emanuela; Palazzolo, Isabella; Tosatto, Laura; Hegazy, Adham Kamaleldeen Omara; Rosati, Jessica; Fischbeck, Kenneth; Basso, Manuela; Liedtke, Hans Christoph; Gomez-Mestre, Ivan; Dalla Valle, Luisa; Biasini, Emiliano; Faccioli, Pietro; Grapputo, Alessandro; Pennuto, Maria .png)
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SaveShare Save Rare Variants Cause Charcot-Marie-Tooth Disease in Malian FamiliesYalcouye, Abdoulaye; Cisse, Lassana; Diarra, Salimata; Diallo, Seybou H.; Bamba, Salia; Yeetong, Patra; Maiga, Boubacar; Dembele, Kekouta; Coulibaly, Dramane; Diallo, Salimata; Tamega, Abdoulaye; Maiga, Alassane Baneye; Ba, Hamidou O.; Shotelersuk, Vorasuk; Fischbeck, Kenneth H.; Guinto, Cheick O.; Landoure, Guida Share Save AP2A2 mutation and defective endocytosis in a Malian family with hereditary spastic paraplegiaDiarra, Salimata; Ghosh, Saikat; Ciss, Lassana; Coulibaly, Thomas; Yalcouy, Abdoulaye; Harmison, George; Diallo, Salimata; Diallo, Seybou H.; Coulibaly, Oumar; Schindler, Alice; Ciss, Cheick A. K.; Maiga, Alassane B.; Bamba, Salia; Samassekou, Oumar; Khokha, Mustafa K.; Mis, Emily K.; Lakhani, Saquib A.; Donovan, Frank X.; Jacobson, Steve; Blackstone, Craig; Guinto, Cheick O.; Landour, Guida; Bonifacino, Juan S.; Fischbeck, Kenneth H.; Grunseich, Christopher Share Save Share Save Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8Yeetong, Patra; Dembele, Mohamed E.; Pongpanich, Monnat; Cisse, Lassana; Srichomthong, Chalurmpon; Maiga, Alassane B.; Dembele, Kekouta; Assawapitaksakul, Adjima; Bamba, Salia; Yalcouye, Abdoulaye; Diarra, Salimata; Mefoung, Samuel Ephrata; Rakwongkhachon, Supphakorn; Traore, Oumou; Tongkobpetch, Siraprapa; Fischbeck, Kenneth H.; Gahl, William A.; Guinto, Cheick O.; Shotelersuk, Vorasuk; Landoure, Guida Share Save Novel variant in CADM3 causes Charcot-Marie-Tooth diseaseYalcouye, Abdoulaye; Rebelo, Adriana P.; Cisse, Lassana; Rives, Lynette; Bamba, Salia; Cogan, Joy; Esoh, Kevin; Diarra, Salimata; Ezell, Kimberly M.; Tamega, Abdoulaye; Guinto, Cheick O.; Dohrn, Maike F.; Hamid, Rizwan; Fischbeck, Kenneth H.; Zuchner, Stephan; Landoure, Guida Share Save Share Save Share Save Share Save GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in MaliYalcouye, Abdoulaye; Diallo, Seybou H.; Cisse, Lassana; Karembe, Mamadou; Diallo, Salimata; Coulibaly, Thomas; Diarra, Salimata; Coulibaly, Dramane; Keita, Mohamed; Guinto, Cheick O.; Fischbeck, Kenneth H.; Wonkam, Ambroise; Landoure, Guida Share Save Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activityLim, Wooi F.; Forouhan, Mitra; Roberts, Thomas C.; Dabney, Jesse; Ellerington, Ruth; Speciale, Alfina A.; Manzano, Raquel; Lieto, Maria; Sangha, Gavinda; Banerjee, Subhashis; Conceicao, Mariana; Cravo, Lara; Biscans, Annabelle; Roux, Loic; Pourshafie, Naemeh; Grunseich, Christopher; Duguez, Stephanie; Khvorova, Anastasia; Pennuto, Maria; Cortes, Constanza J.; La Spada, Albert R.; Fischbeck, Kenneth H.; Wood, Matthew J. A.; Rinaldi, Carlo Share Save Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseasesGrunseich, Christopher; Sarkar, Nathan; Lu, Joyce; Owen, Mallory; Schindler, Alice; Calabresi, Peter A.; Sumner, Charlotte J.; Roda, Ricardo H.; Chaudhry, Vinay; Lloyd, Thomas E.; Crawford, Thomas O.; Subramony, S. H.; Oh, Shin J.; Richardson, Perry; Tanji, Kurenai; Kwan, Justin Y.; Fischbeck, Kenneth H.; Mankodi, Ami Share Save A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron proteinMcCormack, Nikki M.; Abera, Mahlet B.; Arnold, Eveline S.; Gibbs, Rebecca M.; Martin, Scott E.; Buehler, Eugen; Chen, Yu-Chi; Chen, Lu; Fischbeck, Kenneth H.; Burnett, Barrington G. Share Save Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophyWinkelsas, Audrey M.; Grunseich, Christopher; Harmison, George G.; Chwalenia, Katarzyna; Rinaldi, Carlo; Hammond, Suzan M.; Johnson, Kory; Bowerman, Melissa; Arya, Sukrat; Talbot, Kevin; Wood, Matthew J.; Fischbeck, Kenneth H. Share Save Share Save Share Save Share Save Linking epigenetic dysregulation, mitochondrial impairment, and metabolic dysfunction in SBMA motor neuronsPourshafie, Naemeh; Masati, Ester; Bunker, Eric; Nickolls, Alec R.; Thepmankorn, Parisorn; Johnson, Kory; Feng, Xia; Ekins, Tyler; Grunseich, Christopher; Fischbeck, Kenneth H. Share Save A novel variant in the spatacsin gene causing SPG11 in a Malian familyLandoure, Guida; Dembele, Kekouta; Diarra, Salimata; Cisse, Lassana; Samassekou, Oumar; Bocoum, Abdoulaye; Yalcouye, Abdoulaye; Traore, Moussa; Fischbeck, Kenneth H.; Guinto, Cheick O. Share Save 
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