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TÍTULO: Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia  Full Text
AUTORES: Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.; ...Mais
PUBLICAÇÃO: 2022, FONTE: ANNALS OF NEUROLOGY
INDEXADO EM: Scopus WOS
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TÍTULO: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTORES: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...Mais
PUBLICAÇÃO: 2008, FONTE: BRAIN, VOLUME: 131, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 180
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TÍTULO: Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum  Full Text
AUTORES: Giovanni Stevanin; Filippo M Santorelli; Hamid Azzedine; Paula Coutinho ; Jacques Chomilier; Paola S Denora; Elodie Martin; Anne Marie Ouvrard Hernandez; Alessandra Tessa; Naima Bouslam; Alexander Lossos; Perrine Charles; Jose L Loureiro ; Nizar Elleuch; Christian Confavreux; Vitor T Cruz ; Merle Ruberg; Eric Leguern; Djamel Grid; Meriem Tazir; Bertrand Fontaine; Alessandro Filla; Enrico Bertini; Alexandra Durr; Alexis Brice; ...Mais
PUBLICAÇÃO: 2007, FONTE: NATURE GENETICS, VOLUME: 39, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef: 260