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

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Autor(en):

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

Tübinger Autor(en):

Wiethoff, Sarah

Erschienen in:

Brain (2019), Bd. 142, S. 2948-2964

Verlagsangabe:

Oxford Univ Press

Sprache:

Englisch

Referenz zum Volltext:

http://dx.doi.org/10.1093/brain/awz248

ISSN:

1460-2156