Congenital disorders of autophagy: An emerging novel class of inborn errors of neuro-metabolism

Brain

Volumn 139, Issue 2, 2016, Pages 317-337

  Ebrahimi Fakhari, Darius ^a,b   Saffari, Afshin ^b   Wahlster, Lara ^b,c   Lu, Jenny ^a   Byrne, Susan ^d   Hoffmann, Georg F ^b   Jungbluth, Heinz ^d,e,f   Sahin, Mustafa ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

^b UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

autophagy; inborn errors of metabolism; mammalian target of rapamycin (mTOR); neurodegeneration; neurodevelopment

Indexed keywords

MAMMALIAN TARGET OF RAPAMYCIN;

ARTICLE; AUTOPHAGY; AUTOSOMAL RECESSIVE DISORDER; BETA PROPELLER PROTEIN ASSOCIATED NEURODEGENERATION; CENTRAL NERVOUS SYSTEM; CEREBELLAR ATAXIA; CONGENITAL DISORDER; EPG5 GENE; GENE; GENE MAPPING; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INBORN ERROR OF METABOLISM; INTELLECTUAL IMPAIRMENT; LYSOSOME STORAGE DISEASE; MACROAUTOPHAGY; NERVE DEGENERATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; SORTING NEXIN 14 GENE; SPG11 GENE; TECPR2 GENE; VICI SYNDROME; WDR45 GENE; ZFYVE26 GENE; AGENESIS OF CORPUS CALLOSUM; BRAIN DISEASES, METABOLIC, INBORN; CATARACT; GENETICS; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; LYSOSOME; METABOLISM; PHYSIOLOGY; SPASTIC PARAPLEGIA, HEREDITARY;

AGENESIS OF CORPUS CALLOSUM; AUTOPHAGY; BRAIN DISEASES, METABOLIC, INBORN; CATARACT; HUMANS; LYSOSOMAL STORAGE DISEASES, NERVOUS SYSTEM; LYSOSOMES; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84959891597     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv371     Document Type: Article

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