Neurotransmitter abnormalities and response to supplementation in SPG11

Molecular Genetics and Metabolism

Volumn 107, Issue 1-2, 2012, Pages 229-233

  Vanderver, Adeline ^a   Tonduti, Davide ^b   Auerbach, Sarah ^a   Schmidt, Johanna L ^a   Parikh, Sumit ^c   Gowans, Gordon C ^d   Jackson, Kelly E ^d   Brock, Pamela L ^d   Patterson, Marc ^e   Nehrebecky, Michelle ^f   Godfrey, Rena ^f   Zein, Wadih M ^g   Gahl, William ^f,h   Toro, Camilo ^f  

^a CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF PAVIA   (Italy)

^c LERNER RESEARCH INSTITUTE   (United States)

^d UNIVERSITY OF LOUISVILLE SCHOOL OF MEDICINE   (United States)

^e MAYO CLINIC   (United States)

^f NATIONAL INSTITUTES OF HEALTH   (United States)

^g NATIONAL EYE INSTITUTE   (United States)

^h NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Dopa responsive dystonia; Neurotransmitter disorder; Spastic paraparesis; SPG11

Indexed keywords

CARBIDOPA; LEVODOPA; MYELIN; NEUROTRANSMITTER; SAPROPTERIN;

ADULT; ARTICLE; CEREBROSPINAL FLUID; CEREBROSPINAL FLUID ANALYSIS; CLINICAL ARTICLE; DYSARTHRIA; EXTRAPYRAMIDAL SYMPTOM; FEMALE; GAIT DISORDER; GENE SEQUENCE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INSOMNIA; INTELLIGENCE QUOTIENT; MALE; MUSCLE ATROPHY; NATIONAL HEALTH ORGANIZATION; NEUROIMAGING; PRIORITY JOURNAL; PROPRIOCEPTION; PROSPECTIVE STUDY; RETINA MACULOPATHY; SPG11 SYNDROME;

ADULT; BRAIN; FEMALE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROTRANSMITTER AGENTS; PROTEINS; RETINA; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84866167220     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.05.020     Document Type: Article

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