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Brain
Volumn 138, Issue 9, 2015, Pages e376-
A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation
Author keywords

[No Author keywords available]
Indexed keywords

AMYOTROPHIC LATERAL SCLEROSIS; ARM DISEASE; AUTOSOMAL DOMINANT INHERITANCE; BULBAR PARALYSIS; CHCHD10 GENE; DISEASE COURSE; ELECTROMYOGRAM; EXOME; EXON; EYE MOVEMENT DISORDER; FAMILY STUDY; FASCICULATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GERMAN (CITIZEN); HETEROZYGOTE; HUMAN; HYPERREFLEXIA; LETTER; LIMB WEAKNESS; MALE; MOTOR NEURON DISEASE; MUSCLE ATONIA; MUSCLE ATROPHY; MUSCLE BIOPSY; NEXT GENERATION SEQUENCING; NYSTAGMUS; ONSET AGE; PARESIS; PHENOTYPE; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SPASTIC GAIT; SPASTICITY; SURVIVAL TIME; COMPLICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FEMALE; FRONTOTEMPORAL DEMENTIA; GENETICS; MITOCHONDRION; PATHOLOGY;
EID: 84926411805     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awv014     Document Type: Letter
Times cited : (46)
References (5)
  • 1
    • 84905041572 scopus 로고    scopus 로고
    • A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement
    • Bannwarth S, Ait-El-Mkadem S, Chaussenot A, Genin EC, Lacas-Gervais S, Fragaki K, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain 2014; 137: 2329-45.
    • (2014) Brain , vol.137 , pp. 2329-2345
    • Bannwarth, S.1    Ait-El-Mkadem, S.2    Chaussenot, A.3    Genin, E.C.4    Lacas-Gervais, S.5    Fragaki, K.6
  • 2
    • 0032692481 scopus 로고    scopus 로고
    • The ALSFRS-R: A revised ALS functional rating scale that incorporates assessments of respiratory function
    • BDNF ALS Study Group (Phase III)
    • Cedarbaum JM, Stambler N, Malta E, Fuller C, Hilt D, Thurmond B, et al. The ALSFRS-R: A revised ALS functional rating scale that incorporates assessments of respiratory function. BDNF ALS Study Group (Phase III). J Neurol Sci 1999; 169: 13-21.
    • (1999) J Neurol Sci , vol.169 , pp. 13-21
    • Cedarbaum, J.M.1    Stambler, N.2    Malta, E.3    Fuller, C.4    Hilt, D.5    Thurmond, B.6
  • 3
    • 85027958118 scopus 로고    scopus 로고
    • Screening of CHCHD10 in a rench cohort confirms the involvement of this gene in FTD-ALS
    • Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, et al. Screening of CHCHD10 in a rench cohort confirms the involvement of this gene in FTD-ALS. Neurobiol Aging 2014; 35: 2884. e1-4. http: //dx. doi. org/10. 1016/ j. neurobiolaging. 2014. 07. 022.
    • (2014) Neurobiol Aging , vol.35 , pp. 2884e1-2884e4
    • Chaussenot, A.1    Le Ber, I.2    Ait-El-Mkadem, S.3    Camuzat, A.4    De Septenville, A.5    Bannwarth, S.6
  • 4
    • 84920873336 scopus 로고    scopus 로고
    • Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis
    • Johnson J, Glynn S, Gibbs J, Nalls M, Sabatelli M, Restagno G, et al. Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. Brain 2014; 137(Pt 12): e311. doi: 10. 1093/brain/awu265.
    • (2014) Brain , vol.137 , pp. e311
    • Johnson, J.1    Glynn, S.2    Gibbs, J.3    Nalls, M.4    Sabatelli, M.5    Restagno, G.6
  • 5
    • 84920932398 scopus 로고    scopus 로고
    • Two novel mutations in conserved codons indicate that CHCHD10 is a motor neuron disease gene
    • Müller K, Andersen P, Hübers A, Marroquin N, Volk A, Danzer K, et al. Two novel mutations in conserved codons indicate that CHCHD10 is a motor neuron disease gene. Brain 2014; 137(Pt 12): e309. doi: 10. 1093/brain/awu227.
    • (2014) Brain , vol.137 , pp. e309
    • Müller, K.1    Andersen, P.2    Hübers, A.3    Marroquin, N.4    Volk, A.5    Danzer, K.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.