Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.

dc.contributor.author	Grossmann, Benita
dc.contributor.author	Grimmel, Mona
dc.contributor.author	Grasshoff, Ute
dc.contributor.author	LRad, Aboulfaz
dc.contributor.author	Vona, Barbara
dc.contributor.author	Haack, Tobias
dc.date.accessioned	2022-02-17T10:30:30Z
dc.date.available	2022-02-17T10:30:30Z
dc.date.issued	2021-10-07
dc.identifier.issn	1537-6605
dc.identifier.uri	http://hdl.handle.net/10900/124657
dc.language.iso	en	de_DE
dc.publisher	Cell Press	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.ajhg.2021.08.003	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss	de_DE
dc.type	Article	de_DE
utue.kommentar.intern	mehr als 100 Autoren	de_DE
utue.quellen.id	20211125174918_00301
utue.publikation.seiten	2006-2016	de_DE
utue.personen.roh	Richard, Elodie M.
utue.personen.roh	Bakhtiari, Somayeh
utue.personen.roh	Marsh, Ashley P. L.
utue.personen.roh	Kaiyrzhanov, Rauan
utue.personen.roh	Wagner, Matias
utue.personen.roh	Shetty, Sheetal
utue.personen.roh	Pagnozzi, Alex
utue.personen.roh	Nordlie, Sandra M.
utue.personen.roh	Guida, Brandon S.
utue.personen.roh	Cornejo, Patricia
utue.personen.roh	Magee, Helen
utue.personen.roh	Liu, James
utue.personen.roh	Norton, Bethany Y.
utue.personen.roh	Webster, Richard, I
utue.personen.roh	Worgan, Lisa
utue.personen.roh	Hakonarson, Hakon
utue.personen.roh	Li, Jiankang
utue.personen.roh	Guo, Yiran
utue.personen.roh	Jain, Mahim
utue.personen.roh	Blesson, Alyssa
utue.personen.roh	Rodan, Lance H.
utue.personen.roh	Abbott, Mary-Alice
utue.personen.roh	Comi, Anne
utue.personen.roh	Cohen, Julie S.
utue.personen.roh	Alhaddad, Bader
utue.personen.roh	Meitinger, Thomas
utue.personen.roh	Lenz, Dominic
utue.personen.roh	Ziegler, Andreas
utue.personen.roh	Kotzaeridou, Urania
utue.personen.roh	Brunet, Theresa
utue.personen.roh	Chassevent, Anna
utue.personen.roh	Smith-Hicks, Constance
utue.personen.roh	Ekstein, Joseph
utue.personen.roh	Weiden, Tzvi
utue.personen.roh	Hahn, Andreas
utue.personen.roh	Zharkinbekova, Nazira
utue.personen.roh	Turnpenny, Peter
utue.personen.roh	Tucci, Arianna
utue.personen.roh	Yelton, Melissa
utue.personen.roh	Horvath, Rita
utue.personen.roh	Gungor, Serdal
utue.personen.roh	Hiz, Semra
utue.personen.roh	Oktay, Yavuz
utue.personen.roh	Lochmuller, Hanns
utue.personen.roh	Zollino, Marcella
utue.personen.roh	ManuelaMorleo
utue.personen.roh	Marangi, Giuseppe
utue.personen.roh	Nigro, Vincenzo
utue.personen.roh	Torella, Annalaura
utue.personen.roh	Pinelli, Michele
utue.personen.roh	Amenta, Simona
utue.personen.roh	Husain, Ralf A.
utue.personen.roh	Grossmann, Benita
utue.personen.roh	Rapp, Marion
utue.personen.roh	Steen, Claudia
utue.personen.roh	Marquardt, Iris
utue.personen.roh	Grimmel, Mona
utue.personen.roh	Grasshoff, Ute
utue.personen.roh	Korenke, G. Christoph
utue.personen.roh	Owczarek-Lipska, Marta
utue.personen.roh	Neidhardt, John
utue.personen.roh	Radio, Francesca Clementinac
utue.personen.roh	Mancini, Cecilia
utue.personen.roh	Sepulveda, Dianela Judith Claps
utue.personen.roh	Mc Walter, Kirsty
utue.personen.roh	Begtrup, Amber
utue.personen.roh	Crunk, Amy
utue.personen.roh	Sacoto, Maria J. Guillen
utue.personen.roh	Person, Richard
utue.personen.roh	Schnur, Rhonda E.
utue.personen.roh	Mancardi, Maria Margherita
utue.personen.roh	Kreuder, Florian
utue.personen.roh	Striano, Pasquale
utue.personen.roh	Zara, Federico
utue.personen.roh	Chung, Wendy K.
utue.personen.roh	Marks, Warren A.
utue.personen.roh	van Eyk, Clare L.
utue.personen.roh	Webber, Dani L.
utue.personen.roh	Corbett, Mark A.
utue.personen.roh	Harper, Kelly
utue.personen.roh	Berry, Jesia G.
utue.personen.roh	Mac Lennan, Alastair H.
utue.personen.roh	Gecz, Jozef
utue.personen.roh	Tartaglia, Marco
utue.personen.roh	Salpietro, Vincenzo
utue.personen.roh	Christodoulou, John
utue.personen.roh	Kaslin, Jan
utue.personen.roh	Padilla-Lopez, Sergio
utue.personen.roh	Bilguvar, Kaya
utue.personen.roh	Munchau, Alexander
utue.personen.roh	Ahmed, Zubair M.
utue.personen.roh	Hufnagel, Robert B.
utue.personen.roh	Fahey, Michael C.
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Houlden, Henry
utue.personen.roh	Sticht, Heinrich
utue.personen.roh	Mane, Shrikant M.
utue.personen.roh	LRad, Aboulfaz
utue.personen.roh	Vona, Barbara
utue.personen.roh	Jin, Sheng Chih
utue.personen.roh	Haack, Tobias B.
dcterms.isPartOf.ZSTitelID	American Journal of Human Genetics	de_DE
dcterms.isPartOf.ZS-Issue	10	de_DE
dcterms.isPartOf.ZS-Volume	108	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE