换一批Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
第一作者：
Sanderson, Leslie E.
作者：
Sanderson, Leslie E. [1]
;
Lanko, Kristina [2]
;
Alsagob, Maysoon [3]
;
Almass, Rawan [4]
;
Al-Ahmadi, Nada [5]
;
Najafi, Maryam [6]
;
Al-Muhaizea, Mohammad A. [7]
;
Alzaidan, Hamad [8]
;
AlDhalaan, Hesham [9]
;
Perenthaler, Elena [10]
;
van der Linde, Herma C. [11]
;
Nikoncuk, Anita [12]
;
Kuhn, Nikolas A. [13]
;
Antony, Dinu [14]
;
Owaidah, Tarek Mustafa [15]
;
Raskin, Salmo [16]
;
Dalla Rosa Vieira, Luana Gabriela [17]
;
Mombach, Romulo [18]
;
Ahangari, Najmeh [19]
;
Damaceno Silveira, Taina Regina [20]
;
Ameziane, Najim [21]
;
Rolfs, Arndt [22]
;
Alharbi, Aljohara [23]
;
Sabbagh, Raghda M. ;
AlAhmadi, Khalid ;
Alawam, Bashayer ;
Ghebeh, Hazem ;
AlHargan, Aljouhra ;
Albader, Anoud A. ;
Binhumaid, Faisal S. ;
Goljan, Ewa ;
Monies, Dorota ;
Mustafa, Osama M. ;
Aldosary, Mazhor ;
AlBakheet, Albandary ;
Alyounes, Banan ;
Almutairi, Faten ;
Al-Odaib, Ali ;
Aksoy, Durdane Bekar ;
Basak, A. Nazli ;
Palvadeau, Robin ;
Trabzuni, Daniah ;
Rosenfeld, Jill A. ;
Karimiani, Ehsan Ghayoor ;
Meyer, Brian F. ;
Karakas, Bedri ;
Al-Mohanna, Futwan ;
Arold, Stefan T. ;
Colak, Dilek ;
Maroofian, Reza ;
Houlden, Henry ;
Bertoli-Avella, Aida M. ;
Schmidts, Miriam ;
Barakat, Tahsin Stefan ;
van Ham, Tjakko J. ;
Kaya, Namik
作者单位：
KFSHRC, Dept Mol Oncol, Riyadh 11211, Saudi Arabia
[1]
Nucleo Assistencia Integral Ao Paciente Especial, BR-89202450 Joinvile, SC, Brazil
[2]
Radboud Univ Nijmegen Med Ctr, Human Genet Dept, Genome Res Div, Geert Grootepl Zuid 10, NL-6525 GA
[3]
KFSHRC, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia
[4]
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[5]
KFSHRC, Dept Neurosci, Riyadh 11211, Saudi Arabia
[6]
CENTOGENE GmbH, D-18055 Rostock, Germany
[7]
UCL, Dept Mol Neurosci, Inst Neurol, London WC1N 3BG, England
[8]
King Faisal Specialist Hosp & Res Ctr KFSHRC, Dept Genet, Riyadh 11211, Saudi Arabia
[9]
Koc Univ, Suna & Inan Kirac Fdn, Sch Med, NDAL KUTTAM, Davutpasa Cad 4, TR-34010 Istanbul, Turkey
[10]
KFSHRC, Stem Cell & Tissue Re Engn Program, Riyadh 11211, Saudi Arabia
[11]
King Abdullah Univ Sci & Technol KAUST, Computat Biosci Res Ctr CBRC, Div Biol & Environm Sci &
[12]
St Georges Univ London, Mol & Clin Sci Inst, Cranmer Terrace, London SW17 0RE, England
[13]
King Faisal Specialist Hosp & Res Ctr KFSHRC, Dept Med Genet, Riyadh 11211, Saudi Arabia
[14]
Univ Regiao Joinville, Posgrad Saude & Meio Ambiente, BR-89219710 Joinville, SC, Brazil
[15]
Erasmus MC Univ Med Ctr, Dept Clin Genet, POB 2040, NL-3000 CA Rotterdam, Netherlands
[16]
Positivo Univ Med Sch, BR-81280330 Curitiba, Parana, Brazil
[17]
KFSHRC, Dept Biostat Epidemiol & Sci Comp, Riyadh 11211, Saudi Arabia
[18]
Freiburg Univ, Univ Hosp Freiburg, Fac Med, Ctr Pediat & Adolescent Med, Mathildenstr 1, D-79106
[19]
KFSHRC, Dept Cell Biol, Riyadh 11211, Saudi Arabia
[20]
Gaziosmanpasa Univ, Sch Med, Neurol Dept Tokat, 8FJH CW Tokat, Merkez Tokat, Turkey
[21]
UCL Queen Sq Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England
[22]
Mashhad Univ Med Sci, Fac Med, Dept Med Genet & Mol Med, Mashhad 9177899191, Iran
[23]
发布时间
2021-08-05
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Brain
Brain
769-780页
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