换一批Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
第一作者：
Husain, Ralf A.
作者：
Husain, Ralf A. [1]
;
Grimmel, Mona [2]
;
Wagner, Matias [3]
;
Hennings, J. Christopher [4]
;
Marx, Christian [5]
;
Feichtinger, Rene G. [6]
;
Saadi, Abdelkrim [7]
;
Rostasy, Kevin [8]
;
Radelfahr, Florentine [9]
;
Bevot, Andrea [10]
;
Doebler-Neumann, Marion [11]
;
Hartmann, Hans [12]
;
Colleaux, Laurence [13]
;
Cordts, Isabell [14]
;
Kobeleva, Xenia [15]
;
Darvish, Hossein [16]
;
Bakhtiari, Somayeh [17]
;
Kruer, Michael C. [18]
;
Besse, Arnaud [19]
;
Ng, Andy Cheuk-Him [20]
;
Chiang, Diana [21]
;
Bolduc, Francois [22]
;
Tafakhori, Abbas ;
Mane, Shrikant ;
Firouzabadi, Saghar Ghasemi ;
Huebner, Antje K. ;
Buchert, Rebecca ;
Beck-Woedl, Stefanie ;
Mueller, Amelie J. ;
Laugwitz, Lucia ;
Naegele, Thomas ;
Wang, Zhao-Qi ;
Strom, Tim M. ;
Sturm, Marc ;
Meitinger, Thomas ;
Klockgether, Thomas ;
Riess, Olaf ;
Klopstock, Thomas ;
Brandl, Ulrich ;
Huebner, Christian A. ;
Deschauer, Marcus ;
Mayr, Johannes A. ;
Bonnen, Penelope E. ;
Kraegeloh-Mann, Ingeborg ;
Wortmann, Saskia B. ;
Haack, Tobias B.
作者单位：
Univ Alberta, Dept Pediat, Div Pediat Neurol, Edmonton, AB T6G 2R3, Canada
[1]
Hannover Med Sch, Clin Pediat Kidney Liver & Metab Dis, D-30625 Hannover, Germany
[2]
Jena Univ Hosp, Dept Neuropediat, D-07747 Jena, Germany
[3]
Univ Tubingen, Inst Med Genet & Appl Genom, D-72076 Tubingen, Germany
[4]
Tech Univ Munich TUM, Sch Med, Inst Human Genet, D-81675 Munich, Germany
[5]
Yale Univ, Yale Ctr Genome Anal, Sch Med, West Haven, CT 06516 USA
[6]
Semnan Univ Med Sci, Canc Res Ctr, Sch Med, Semnan, Iran
[7]
Benyoucef Benkhedda Univ, Ben Aknoun Hosp, Dept Neurol, Algiers 16028, Algeria
[8]
Univ Hosp Tuebingen, Dept Neuroradiol, D-72072 Tubingen, Germany
[9]
Witten Herdecke Univ, Childrens Hosp Datteln, Dept Pediat Neurol, D-45711 Datteln, Germany
[10]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[11]
Leibniz Inst Aging, Fritz Lipmann Inst FLI, D-07745 Jena, Germany
[12]
Salzburger Landeskliniken SALK, Univ Childrens Hosp, A-5020 Salzburg, Austria
[13]
Univ Bonn, Dept Neurol, D-53127 Bonn, Germany
[14]
Tech Univ Munich, Sch Med, Dept Neurol, D-81675 Munich, Germany
[15]
Paris Descartes Univ, Imagine Inst, Dev Brain Disorders Lab, INSERM,UMR1163, Paris, France
[16]
Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Dept Neurol, D-80336 Munich, Germany
[17]
Univ Childrens Hosp, Dept Pediat Neurol & Dev Med, D-72072 Tubingen, Germany
[18]
Phoenix Childrens Hosp, Barrow Neurol Inst, Phoenix, AZ 85004 USA
[19]
Univ Tehran Med Sci, Iranian Ctr Neurol Res, Neurosci Inst, Tehran, Iran
[20]
Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran
[21]
Jena Univ Hosp, Inst Human Genet, D-07747 Jena, Germany
[22]
发布时间
2021-04-24
- 浏览1
The American Journal of Human Genetics
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