Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

American Journal of Human Genetics

Volumn 99, Issue 3, 2016, Pages 735-743

  Haack, Tobias B ^a,b   Iuso, Arcangela ^a,b   Kremer, Laura S ^a,b   Hartig, Monika ^a   Strom, Tim M ^a,b   Meitinger, Thomas ^a,b,n   Prokisch, Holger ^a,b   Gorza, Matteo ^b   Graf, Elisabeth ^b   Berutti, Riccardo ^b   Ignatius, Erika ^c,d   Isohanni, Pirjo ^c,d   Suomalainen, Anu ^c   Carroll, Christopher J ^c   Lönnqvist, Tuula ^d   Calvo Garrido, Javier ^e   Stranneheim, Henrik ^e,f   Wedell, Anna ^e,f   Maffezzini, Camilla ^e   Freyer, Christoph ^e,f   Wredenberg, Anna ^e,f   Paucar, Martin ^e   Svenningsson, Per ^e   Brandberg, Göran ^g   Kurian, Manju A ^h,i   Hayflick, Susan A ^j,k   Venco, Paola ^l   Tiranti, Valeria ^l   Dichgans, Martin ^m,n,o   Klopstock, Thomas ^m,n,o   Horvath, Rita ^p,q   Holinski Feder, Elke ^p   Senderek, Jan ^m   more..

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^e KAROLINSKA INSTITUTE   (Sweden)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g Department of Pediatrics ^*  (Sweden)

^h UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^k OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^l DEPARTMENT OF NEUROSURGERY   (Italy)

^m LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

ⁿ Technische Universität München Munich Cluster for Systems Neurology   (Germany)

^o GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^p MGZ Center of Medical Genetics   (Germany)

^q NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYTOCHROME C OXIDASE; GENOMIC DNA; IRON; MITOCHONDRIAL ENZYME; PARKIN; PROTEIN KINASE C; SCAFFOLD PROTEIN; SEQUESTOSOME 1; MESSENGER RNA; SQSTM1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ALLELE; APRAXIA; ARTICLE; ATAXIA; AUTOPHAGOSOME; AUTOPHAGY; CEREBELLUM ATROPHY; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL EXAMINATION; COGNITIVE DEFECT; DEPOLARIZATION; DYSARTHRIA; DYSTONIA; FEMALE; FIBROBLAST; GAZE PARALYSIS; GENE FREQUENCY; GENERALIZED DYSTONIA; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HISTOCHEMISTRY; HUMAN; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MITOCHONDRION; MOTOR DYSFUNCTION; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PRIORITY JOURNAL; PYRAMIDAL SIGN; SANGER SEQUENCING; SCHOOL CHILD; SELECTIVE AUTOPHAGY; TREMOR; WHOLE EXOME SEQUENCING; COMPLICATION; DEFICIENCY; DEGENERATIVE DISEASE; GAIT; GENETICS; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PROGRESSIVE SUPRANUCLEAR PALSY; YOUNG ADULT;

ADOLESCENT; ADULT; AGE OF ONSET; ATAXIA; AUTOPHAGOSOMES; AUTOPHAGY; CHILD; COGNITION DISORDERS; DYSARTHRIA; DYSTONIA; FEMALE; FIBROBLASTS; GAIT; HUMANS; MALE; MITOCHONDRIA; MOVEMENT DISORDERS; NEURODEGENERATIVE DISEASES; PEDIGREE; PHENOTYPE; RNA, MESSENGER; SEQUESTOSOME-1 PROTEIN; SUPRANUCLEAR PALSY, PROGRESSIVE; YOUNG ADULT;

EID: 84996806746     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.026     Document Type: Article

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