Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase

Molecular Genetics and Metabolism

Volumn 108, Issue 1, 2013, Pages 65-69

  Pierson, Tyler Mark ^a,b,c   Torres, Paola A ^d   Zeng, Bei Jin ^d   Glanzman, Allan M ^a   Adams, David ^e   Finkel, Richard S ^a   Mahuran, Don J ^f   Pastores, Gregory M ^d   Tennekoon, Gihan I ^a   Kolodny, Edwin H ^d  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

Author keywords

Hexosaminidase; GM2 gangliosidosis; Lysosomal storage; Motor neuron disease; Neurodegeneration; Sandhoff disease

Indexed keywords

ALANINE; BETA N ACETYLHEXOSAMINIDASE; CYSTEINE; MIGLUSTAT;

ARTICLE; ATAXIA; BLOOD CHEMISTRY; CASE REPORT; CHILD; COGNITION; COLON RESECTION; DISEASE ASSOCIATION; DISEASE DURATION; DRUG EFFICACY; ENZYME ACTIVITY; FAMILY HISTORY; FASCICULATION; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; LABORATORY TEST; MOTOR NEURON DISEASE; MUSCLE ATROPHY; MUSCLE WEAKNESS; NERVE CONDUCTION; NEUROIMAGING; NEUROLOGIC EXAMINATION; ONSET AGE; PRIORITY JOURNAL; PROTEIN ANALYSIS; RECTUM BIOPSY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKIN BIOPSY; SPLENECTOMY; TAY SACHS DISEASE; TRANSMISSION ELECTRON MICROSCOPY; TREMOR; WESTERN BLOTTING;

AGE OF ONSET; BETA-N-ACETYLHEXOSAMINIDASES; CHILD; FEMALE; HUMANS; MOTOR NEURON DISEASE; MUTATION;

EID: 84871719763     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.10.023     Document Type: Article

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