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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover assunto: Axons - Metabolism remover
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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
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De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

Mendoza-Ferreira, Natalia ; Karakaya, Mert ; Cengiz, Nur ; Beijer, Danique ; Brigatti, Karlla W. ; Gonzaga-Jauregui, Claudia ; Fuhrmann, Nico ; Hölker, Irmgard ; Thelen, Maximilian P. ; Zetzsche, Sebastian ; Rombo, Roman ; Puffenberger, Erik G. ; De Jonghe, Peter ; Deconinck, Tine ; Zuchner, Stephan ; Strauss, Kevin A. ; Carson, Vincent ; Schrank, Bertold ; Wunderlich, Gilbert ; Baets, Jonathan ; Wirth, Brunhilde

American journal of human genetics, 2020-10, Vol.107 (4), p.763-777 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
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Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity

Kurolap, Alina ; Kreuder, Florian ; Gonzaga-Jauregui, Claudia ; Duvdevani, Morasha Plesser ; Harel, Tamar ; Tammer, Luna ; Xin, Baozhong ; Bakhtiari, Somayeh ; Rice, James ; van Eyk, Clare L. ; Gecz, Jozef ; Mah, Jean K. ; Atkinson, Derek ; Cope, Heidi ; Sullivan, Jennifer A. ; Douek, Alon M. ; Colquhoun, Daniel ; Henry, Jason ; Wlodkowic, Donald ; Parman, Yesim ; Candayan, Ayşe ; Kocasoy-Orhan, Elif ; Ilivitzki, Anat ; Soudry, Shiri ; Leibu, Rina ; Glaser, Fabian ; Sency, Valerie ; Ast, Gil ; Shashi, Vandana ; Fahey, Michael C. ; Battaloğlu, Esra ; Jordanova, Albena ; Meiner, Vardiella ; Innes, A. Micheil ; Wang, Heng ; Elpeleg, Orly ; Kruer, Michael C. ; Kaslin, Jan ; Baris Feldman, Hagit

American journal of human genetics, 2022-03, Vol.109 (3), p.518-532 [Periódico revisado por pares]

United States: Elsevier Inc

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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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