Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Human Mutation

Volumn 34, Issue 5, 2013, Pages 706-713

  Sun, Yu ^a   Almomani, Rowida ^a   Breedveld, Guido J ^b   Santen, Gijs W E ^a   Aten, Emmelien ^a   Lefeber, Dirk J ^c   Hoff, Jorrit I ^d   Brusse, Esther ^b   Verheijen, Frans W ^b   Verdijk, Rob M ^b   Kriek, Marjolein ^a   Oostra, Ben ^b   Breuning, Martijn H ^a   Losekoot, Monique ^a   Den Dunnen, Johan T ^a   Van de Warrenburg, Bart P ^c   Maat Kievit, Anneke J A ^b  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ST ANTONIUS HOSPITAL   (Netherlands)

Author keywords

Neurodegenerative disorders; SCAR7; Spinocerebellar ataxia; TPP1

Indexed keywords

CHITOTRIOSIDASE; DIPEPTIDYL PEPTIDASE; TRIPEPTIDYL PEPTIDASE I; UNCLASSIFIED DRUG;

ADULT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE SPINOCEREBELLAR ATAXIA 7; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CLONUS; CONTROLLED STUDY; DIPLOPIA; DISEASE COURSE; DYSPHAGIA; ENZYME ACTIVITY; EPILEPSY; EXOME; FALLING; FEMALE; GAIT DISORDER; GENE; GENETIC VARIABILITY; HUMAN; HYPERREFLEXIA; LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS 2 DISEASE; MEDULLA OBLONGATA; MISSENSE MUTATION; MORTALITY; NEURONAL CEROID LIPOFUSCINOSIS; PEDIGREE ANALYSIS; PHENOTYPE; PONS; PRIORITY JOURNAL; RNA ANALYSIS; SACCADIC EYE MOVEMENT; SEQUENCE ANALYSIS; SPEECH DISORDER; SPINOCEREBELLAR DEGENERATION; TPP1 GENE; URINARY URGENCY; VISUAL DISORDER;

AMINO ACID SEQUENCE; AMINOPEPTIDASES; ANIMALS; DIPEPTIDYL-PEPTIDASES AND TRIPEPTIDYL-PEPTIDASES; EXOME; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MOLECULAR SEQUENCE DATA; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; RNA; SEQUENCE HOMOLOGY, AMINO ACID; SERINE PROTEASES; SPINOCEREBELLAR ATAXIAS;

EID: 84876317516     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22292     Document Type: Article

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