Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan

dc.contributor.author	Beijer, Danique
dc.contributor.author	Winter, Natalie
dc.date.accessioned	2026-07-14T09:04:06Z
dc.date.available	2026-07-14T09:04:06Z
dc.date.issued	2025
dc.identifier.issn	0006-8950
dc.identifier.uri	http://hdl.handle.net/10900/181481
dc.language.iso	en	de_DE
dc.publisher	Oxford : Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awaf021	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD	de_DE
dc.type	Article	de_DE
utue.quellen.id	20251118000000_00977
utue.publikation.seiten	3737-3747	de_DE
utue.personen.roh	Cortese, Andrea
utue.personen.roh	Dohrn, Maike F.
utue.personen.roh	Curro, Riccardo
utue.personen.roh	Negri, Sara
utue.personen.roh	Lassuthova, Petra
utue.personen.roh	Pisciotta, Chiara
utue.personen.roh	Tozza, Stefano
utue.personen.roh	Al-Ajmi, Abdullah
utue.personen.roh	Feng, Changyong
utue.personen.roh	Tomaselli, Pedro J.
utue.personen.roh	Fernandez-Eulate, Gorka
utue.personen.roh	Haddad, Saif
utue.personen.roh	Laura, Matilde
utue.personen.roh	Rossor, Alexander M.
utue.personen.roh	Vegezzi, Elisa
utue.personen.roh	Facchini, Stefano
utue.personen.roh	Sleigh, James N.
utue.personen.roh	Rebelo, Adriana
utue.personen.roh	Beijer, Danique
utue.personen.roh	Raposo, Jacquelyn
utue.personen.roh	Saporta, Mario
utue.personen.roh	Lauerova, Barbora
utue.personen.roh	Pernice, Helena F.
utue.personen.roh	Achenbach, Pascal
utue.personen.roh	Schone, Ulrike
utue.personen.roh	Alon, Tayir
utue.personen.roh	Deschauer, Marcus
utue.personen.roh	Cordts, Isabell
utue.personen.roh	Obermaier, Carolin D.
utue.personen.roh	Winter, Natalie
utue.personen.roh	Creigh, Peter D.
utue.personen.roh	Sowden, Janet E.
utue.personen.roh	Rehbein, Tyler
utue.personen.roh	Magri, Stefania
utue.personen.roh	Bertini, Alessandro
utue.personen.roh	Saveri, Paola
utue.personen.roh	Ripellino, Paolo
utue.personen.roh	Huang, Jingyu
utue.personen.roh	Nadaj-Pakleza, Aleksandra
utue.personen.roh	Ross, Alison
utue.personen.roh	Holt, James K. L.
utue.personen.roh	Brennan, Kathryn M.
utue.personen.roh	Sukenik-Halevy, Rivka
utue.personen.roh	Bizaoui, Varoona
utue.personen.roh	Parman, Yesim
utue.personen.roh	Battaloglu, Esra
utue.personen.roh	Cakar, Arman
utue.personen.roh	Alrohaif, Hadil
utue.personen.roh	Hammans, Simon
utue.personen.roh	Kumar, Kishore R.
utue.personen.roh	Kennerson, Marina L.
utue.personen.roh	Kayserili, Hulya
utue.personen.roh	Amado, Defne A.
utue.personen.roh	Hahn, Katrin
utue.personen.roh	Valentino, Paola
utue.personen.roh	Cavalcanti, Francesca
utue.personen.roh	Gaetano, Carlo
utue.personen.roh	Taroni, Franco
utue.personen.roh	Braathen, Geir J.
utue.personen.roh	Houlden, Henry
utue.personen.roh	Stojkovic, Tanya
utue.personen.roh	Peric, Stojan
utue.personen.roh	Bolino, Alessandra
utue.personen.roh	Previtali, Stefano C.
utue.personen.roh	Lee, Yi-Chung
utue.personen.roh	Basak, Ayse N.
utue.personen.roh	Hamed, Sherifa A.
utue.personen.roh	Rojas-Garcia, Ricardo
utue.personen.roh	Claeys, Kristl G.
utue.personen.roh	Marques, Wilson
utue.personen.roh	Sevilla, Teresa
utue.personen.roh	Schlotter-Weigel, Beate
utue.personen.roh	Manganelli, Fiore
utue.personen.roh	Zhang, Ruxu
utue.personen.roh	Herrmann, David N.
utue.personen.roh	Scherer, Steven S.
utue.personen.roh	Seeman, Pavel
utue.personen.roh	Pareyson, Davide
utue.personen.roh	Reilly, Mary M.
utue.personen.roh	Shy, Michael E.
utue.personen.roh	Zuchner, Stephan
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Issue	10	de_DE
dcterms.isPartOf.ZS-Volume	148	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE