Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy
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Published:2022-10
Issue:10
Volume:24
Page:2079-2090
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Park JoohyunORCID, Tucci Arianna, Cipriani Valentina, Demidov German, Rocca Clarissa, Senderek Jan, Butryn Michaela, Velic Ana, Lam Tanya, Galanaki Evangelia, Cali Elisa, Vestito Letizia, Maroofian Reza, Deininger Natalie, Rautenberg Maren, Admard Jakob, Hahn Gesa-Astrid, Bartels Claudius, van Os Nienke J.H., Horvath Rita, Chinnery Patrick F., Tiet May Yung, Hewamadduma Channa, Hadjivassiliou Marios, Tofaris George K., Wood Nicholas W., Hayer Stefanie N., Bender Friedemann, Menden Benita, Cordts Isabell, Klein Katrin, Nguyen Huu Phuc, Krauss Joachim K., Blahak Christian, Strom Tim M., Sturm Marc, van de Warrenburg Bart, Lerche Holger, Maček Boris, Synofzik Matthis, Ossowski Stephan, Timmann Dagmar, Wolf Marc E., Smedley Damian, Riess Olaf, Schöls Ludger, Houlden Henry, Haack Tobias B., Hengel Holger, Ambrose J.C., Arumugam P., Baple E.L., Bleda M., Boardman-Pretty F., Boissiere J.M., Boustred C.R., Brittain H., Caulfield M.J., Chan G.C., Craig C.E.H., Daugherty L.C., de Burca A., Devereau A., Elgar G., Foulger R.E., Fowler T., Furió-Tarí P., Hackett J.M., Halai D., Hamblin A., Henderson S., Holman J.E., Hubbard T.J.P., Ibáñez K., Jackson R., Jones L.J., Kasperaviciute D., Kayikci M., Lahnstein L., Lawson K., Leigh S.E.A., Leong I.U.S., Lopez F.J., Maleady-Crowe F., Mason J., McDonagh E.M., Moutsianas L., Mueller M., Murugaesu N., Need A.C., Odhams C.A., Patch C., Perez-Gil D., Polychronopoulos D., Pullinger J., Rahim T., Rendon A., Riesgo-Ferreiro P., Rogers T., Ryten M., Savage K., Sawant K., Scott R.H., Siddiq A., Sieghart A., Smedley D., Smith K.R., Sosinsky A., Spooner W., Stevens H.E., Stuckey A., Sultana R., Thomas E.R.A., Thompson S.R., Tregidgo C., Tucci A., Walsh E., Watters S.A., Welland M.J., Williams E., Witkowska K., Wood S.M., Zarowiecki M.
Subject
Genetics (clinical)
Cited by
4 articles.
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