Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Efthymiou, Stephanie; Salpietro, Vincenzo; Malintan, Nancy; Poncelet, Mallory; Kriouile, Yamna; Fortuna, Sara; De Zorzi, Rita; Payne, Katelyn; Henderson, Lindsay B.; Cortese, Andrea; Maddirevula, Sateesh; Alhashmi, Nadia; Wiethoff, Sarah; Ryten, Mina; Botia, Juan A.; Provitera, Vincenzo; Schuelke, Markus; Vandrovcova, Jana; Groppa, Stanislav; Karashova, Blagovesta Marinova; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Perez-Duenas, Belen; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; van den Maagdenberg, Arn M. J. M.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; Garcia-Silva, Mayte; Ruiz, Alfons Macaya; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Sanchez, Benigno Monteagudo; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Rothman, James; Kullmann, Dimitri; Papanicolaou, Eleni Zamba; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Lim, Shen-Yang; Shaikh, Farooq; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Borgione, Eugenia; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Minetti, Carlo; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa; Pipis, Menelaos; Bettencourt, Conceicao; Rinaldi, Simon; Walsh, Laurence; Torti, Erin; Iodice, Valeria; Najafi, Maryam; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Siquier-Pernet, Karine; Boddaert, Nathalie; De Lonlay, Pascale; Cantagrel, Vincent; Aguennouz, Mhammed; El Khorassani, Mohamed; Schmidts, Miriam; Alkuraya, Fowzan S.; Edvardson, Simon; Nolano, Maria; Devaux, Jerome; Houlden, Henry

dc.contributor.author	Wiethoff, Sarah
dc.date.accessioned	2020-08-12T14:08:51Z
dc.date.available	2020-08-12T14:08:51Z
dc.date.issued	2019
dc.identifier.issn	1460-2156
dc.identifier.uri	http://hdl.handle.net/10900/104817
dc.language.iso	en	de_DE
dc.publisher	Oxford Univ Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1093/brain/awz248	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination	de_DE
dc.type	Article	de_DE
utue.quellen.id	20200409032300_01016
utue.publikation.seiten	2948-2964	de_DE
utue.personen.roh	Efthymiou, Stephanie
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	Malintan, Nancy
utue.personen.roh	Poncelet, Mallory
utue.personen.roh	Kriouile, Yamna
utue.personen.roh	Fortuna, Sara
utue.personen.roh	De Zorzi, Rita
utue.personen.roh	Payne, Katelyn
utue.personen.roh	Henderson, Lindsay B.
utue.personen.roh	Cortese, Andrea
utue.personen.roh	Maddirevula, Sateesh
utue.personen.roh	Alhashmi, Nadia
utue.personen.roh	Wiethoff, Sarah
utue.personen.roh	Ryten, Mina
utue.personen.roh	Botia, Juan A.
utue.personen.roh	Provitera, Vincenzo
utue.personen.roh	Schuelke, Markus
utue.personen.roh	Vandrovcova, Jana
utue.personen.roh	Groppa, Stanislav
utue.personen.roh	Karashova, Blagovesta Marinova
utue.personen.roh	Nachbauer, Wolfgang
utue.personen.roh	Boesch, Sylvia
utue.personen.roh	Arning, Larissa
utue.personen.roh	Timmann, Dagmar
utue.personen.roh	Cormand, Bru
utue.personen.roh	Perez-Duenas, Belen
utue.personen.roh	Goraya, Jatinder S.
utue.personen.roh	Sultan, Tipu
utue.personen.roh	Mine, Jun
utue.personen.roh	Avdjieva, Daniela
utue.personen.roh	Kathom, Hadil
utue.personen.roh	Tincheva, Radka
utue.personen.roh	Banu, Selina
utue.personen.roh	Pineda-Marfa, Mercedes
utue.personen.roh	Veggiotti, Pierangelo
utue.personen.roh	Ferrari, Michel D.
utue.personen.roh	van den Maagdenberg, Arn M. J. M.
utue.personen.roh	Verrotti, Alberto
utue.personen.roh	Marseglia, Giangluigi
utue.personen.roh	Savasta, Salvatore
utue.personen.roh	Garcia-Silva, Mayte
utue.personen.roh	Ruiz, Alfons Macaya
utue.personen.roh	Garavaglia, Barbara
utue.personen.roh	Borgione, Eugenia
utue.personen.roh	Portaro, Simona
utue.personen.roh	Sanchez, Benigno Monteagudo
utue.personen.roh	Boles, Richard
utue.personen.roh	Papacostas, Savvas
utue.personen.roh	Vikelis, Michail
utue.personen.roh	Rothman, James
utue.personen.roh	Kullmann, Dimitri
utue.personen.roh	Papanicolaou, Eleni Zamba
utue.personen.roh	Dardiotis, Efthymios
utue.personen.roh	Maqbool, Shazia
utue.personen.roh	Ibrahim, Shahnaz
utue.personen.roh	Kirmani, Salman
utue.personen.roh	Rana, Nuzhat Noureen
utue.personen.roh	Atawneh, Osama
utue.personen.roh	Lim, Shen-Yang
utue.personen.roh	Shaikh, Farooq
utue.personen.roh	Koutsis, George
utue.personen.roh	Breza, Marianthi
utue.personen.roh	Mangano, Salvatore
utue.personen.roh	Scuderi, Carmela
utue.personen.roh	Borgione, Eugenia
utue.personen.roh	Morello, Giovanna
utue.personen.roh	Stojkovic, Tanya
utue.personen.roh	Zollo, Massimo
utue.personen.roh	Heimer, Gali
utue.personen.roh	Dauvilliers, Yves A.
utue.personen.roh	Minetti, Carlo
utue.personen.roh	Al-Khawaja, Issam
utue.personen.roh	Al-Mutairi, Fuad
utue.personen.roh	Hamed, Sherifa
utue.personen.roh	Pipis, Menelaos
utue.personen.roh	Bettencourt, Conceicao
utue.personen.roh	Rinaldi, Simon
utue.personen.roh	Walsh, Laurence
utue.personen.roh	Torti, Erin
utue.personen.roh	Iodice, Valeria
utue.personen.roh	Najafi, Maryam
utue.personen.roh	Karimiani, Ehsan Ghayoor
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Siquier-Pernet, Karine
utue.personen.roh	Boddaert, Nathalie
utue.personen.roh	De Lonlay, Pascale
utue.personen.roh	Cantagrel, Vincent
utue.personen.roh	Aguennouz, Mhammed
utue.personen.roh	El Khorassani, Mohamed
utue.personen.roh	Schmidts, Miriam
utue.personen.roh	Alkuraya, Fowzan S.
utue.personen.roh	Edvardson, Simon
utue.personen.roh	Nolano, Maria
utue.personen.roh	Devaux, Jerome
utue.personen.roh	Houlden, Henry
dcterms.isPartOf.ZSTitelID	Brain	de_DE
dcterms.isPartOf.ZS-Volume	142	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE