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Volumn 16, Issue 1-2, 2015, Pages 124-126

A case of familial ALS due to multi-system proteinopathy 1 and Huntington disease

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANTERIOR HORN CELL; ARTICLE; BRAIN WEIGHT; BREATHING MUSCLE; CASE REPORT; CHOREA; COGNITIVE DEFECT; DEMENTIA; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DYSARTHRIA; FAMILY HISTORY; FASCICULATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; HUNTINGTON CHOREA; MALE; MICROSCOPY; MIDDLE AGED; MONTREAL COGNITIVE ASSESSMENT; MULTISYSTEM PROTEINOPATHY; MUSCLE ATROPHY; MUSCLE WEAKNESS; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; SACCADIC EYE MOVEMENT; SUBSTANTIA NIGRA; TENDON REFLEX; BRAIN; COMPLICATION; METABOLISM; NERVE CELL; PATHOLOGY; TDP 43 PROTEINOPATHY;

EID: 84925688649     PISSN: 21678421     EISSN: 21679223     Source Type: Journal    
DOI: 10.3109/21678421.2014.952238     Document Type: Article
Times cited : (7)

References (9)
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    • (2013) Neurology , vol.80 , pp. 1874-1880
    • Benatar, M.1    Wuu, J.2    Fernandez, C.3    Weihl, C.C.4    Katzen, H.5    Steele, J.6
  • 2
    • 84876070458 scopus 로고    scopus 로고
    • VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations
    • Kim NC, Tresse E, Kolaitis RM, Molliex A, Thomas RE, Alami NH, et al. VCP is essential for mitochondrial quality control by PINK1/Parkin and this function is impaired by VCP mutations. Neuron. 2013; 78: 65-80.
    • (2013) Neuron , vol.78 , pp. 65-80
    • Kim, N.C.1    Tresse, E.2    Kolaitis, R.M.3    Molliex, A.4    Thomas, R.E.5    Alami, N.H.6
  • 8
    • 57649198447 scopus 로고    scopus 로고
    • Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease
    • Ju JS, Miller SE, Hanson PI, Weihl CC. Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease. J Biol Chem. 2008; 283: 30289-99.
    • (2008) J Biol Chem , vol.283 , pp. 30289-30299
    • Ju, J.S.1    Miller, S.E.2    Hanson, P.I.3    Weihl, C.C.4
  • 9
    • 79955918990 scopus 로고    scopus 로고
    • Valosin-containing protein gene mutations: Cellular phenotypes relevant to neurodegeneration
    • Poksay KS, Madden DT, Peter AK, Niazi K, Banwait S, Crippen D, et al. Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration. J Mol Neurosci. 2011; 44: 91-102.
    • (2011) J Mol Neurosci , vol.44 , pp. 91-102
    • Poksay, K.S.1    Madden, D.T.2    Peter, A.K.3    Niazi, K.4    Banwait, S.5    Crippen, D.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.