Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus

Neurology

Volumn 82, Issue 22, 2014, Pages 2003-2006

  Canafoglia, Laura ^a   Robbiano, Angela ^c   Pareyson, Davide ^b   Panzica, Ferruccio ^a   Nanetti, Lorenzo ^b   Giovagnoli, Anna Rita ^b   Venerando, Anna ^b   Gellera, Cinzia ^b   Franceschetti, Silvana ^a   Zara, Federico ^c  

^a Spedali Civili   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

SIALIC ACID; SIALIDASE;

ADULT; ARTICLE; CHERRY RED SPOT; CLINICAL ARTICLE; DISEASE COURSE; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; EXOME; FAMILY; GENE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MUCOLIPIDOSIS TYPE 1; MUTATIONAL ANALYSIS; MYOCLONUS; NEU1 GENE; NORMAL VALUE; ONSET AGE; PRIORITY JOURNAL; SEGREGATION ANALYSIS; SEIZURE; SIBLING; URINE LEVEL; YOUNG ADULT;

ADULT; AGE OF ONSET; DIAGNOSIS, DIFFERENTIAL; EXOME; FEMALE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MUCOLIPIDOSES; MUTATION; MYOCLONUS; NEURAMINIDASE; PEDIGREE;

EID: 84903977919     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000482     Document Type: Article

References (10)

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