메뉴 건너뛰기




Volumn 31, Issue 4, 2013, Pages 929-950

Clinical Neurogenetics: Amyotrophic Lateral Sclerosis

Author keywords

ALS; Amyotrophic lateral sclerosis; Genetics; Phenotypes

Indexed keywords

ANGIOGENIN; ATAXIN 1; ATAXIN 2; CELL PROTEIN; CHOLESTANETRIOL 26 MONOOXYGENASE; COPPER ZINC SUPEROXIDE DISMUTASE; ELONGATION PROTEIN 3; HELICASE; OPTINEURIN; PROFILIN; PROFILIN I; PROTEIN DPP6; PROTEIN UNC13A; PROTEIN VAPB; RILUZOLE; RNA BINDING PROTEIN; RNA HELICASE; RNA POLYMERASE; SENATAXIN; SYNAPTOBREVIN; TAR DNA BINDING PROTEIN; UBIQUILIN 2; UBIQUITIN; UNCLASSIFIED DRUG; VALOSIN CONTAINING PROTEIN;

EID: 84886405547     PISSN: 07338619     EISSN: 15579875     Source Type: Journal    
DOI: 10.1016/j.ncl.2013.05.003     Document Type: Review
Times cited : (32)

References (188)
  • 1
    • 60549117972 scopus 로고    scopus 로고
    • Clinical and pathological continuum of multisystem TDP-43 proteinopathies
    • Geser F., Martinez-Lage M., Robinson J., et al. Clinical and pathological continuum of multisystem TDP-43 proteinopathies. Arch Neurol 2009, 66(2):180-189.
    • (2009) Arch Neurol , vol.66 , Issue.2 , pp. 180-189
    • Geser, F.1    Martinez-Lage, M.2    Robinson, J.3
  • 2
    • 43549091368 scopus 로고    scopus 로고
    • Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis
    • Geser F., Brandmeir N.J., Kwong L.K., et al. Evidence of multisystem disorder in whole-brain map of pathological TDP-43 in amyotrophic lateral sclerosis. Arch Neurol 2008, 65(5):636-641.
    • (2008) Arch Neurol , vol.65 , Issue.5 , pp. 636-641
    • Geser, F.1    Brandmeir, N.J.2    Kwong, L.K.3
  • 3
    • 34347212891 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?
    • Isaacs J.D., Dean A.F., Shaw C.E., et al. Amyotrophic lateral sclerosis with sensory neuropathy: part of a multisystem disorder?. JNeurol Neurosurg Psychiatry 2007, 78(7):750-753.
    • (2007) JNeurol Neurosurg Psychiatry , vol.78 , Issue.7 , pp. 750-753
    • Isaacs, J.D.1    Dean, A.F.2    Shaw, C.E.3
  • 4
    • 84866073476 scopus 로고    scopus 로고
    • Prognostic categories for amyotrophic lateral sclerosis
    • Scotton W.J., Scott K.M., Moore D.H., et al. Prognostic categories for amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2012, 13(6):502-508.
    • (2012) Amyotroph Lateral Scler , vol.13 , Issue.6 , pp. 502-508
    • Scotton, W.J.1    Scott, K.M.2    Moore, D.H.3
  • 5
    • 0037426388 scopus 로고    scopus 로고
    • Are amyotrophic lateral sclerosis patients cognitively normal?
    • Lomen-Hoerth C., Murphy J., Langmore S., et al. Are amyotrophic lateral sclerosis patients cognitively normal?. Neurology 2003, 60(7):1094-1097.
    • (2003) Neurology , vol.60 , Issue.7 , pp. 1094-1097
    • Lomen-Hoerth, C.1    Murphy, J.2    Langmore, S.3
  • 6
    • 23844511513 scopus 로고    scopus 로고
    • Prevalence and patterns of cognitive impairment in sporadic ALS
    • Ringholz G.M., Appel S.H., Bradshaw M., et al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 2005, 65(4):586-590.
    • (2005) Neurology , vol.65 , Issue.4 , pp. 586-590
    • Ringholz, G.M.1    Appel, S.H.2    Bradshaw, M.3
  • 7
    • 77956801164 scopus 로고    scopus 로고
    • Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes
    • Gilbert R.M., Fahn S., Mitsumoto H., et al. Parkinsonism and motor neuron diseases: twenty-seven patients with diverse overlap syndromes. Mov Disord 2010, 25(12):1868-1875.
    • (2010) Mov Disord , vol.25 , Issue.12 , pp. 1868-1875
    • Gilbert, R.M.1    Fahn, S.2    Mitsumoto, H.3
  • 8
    • 67649108912 scopus 로고    scopus 로고
    • The combination of dopa-responsive parkinsonian syndrome and motor neuron disease
    • Pinkhardt E.H., Sperfeld A.D., Gdynia H.J., et al. The combination of dopa-responsive parkinsonian syndrome and motor neuron disease. Neurodegener Dis 2009, 6(3):95-101.
    • (2009) Neurodegener Dis , vol.6 , Issue.3 , pp. 95-101
    • Pinkhardt, E.H.1    Sperfeld, A.D.2    Gdynia, H.J.3
  • 9
    • 37349093418 scopus 로고    scopus 로고
    • Clinical, electrophysiologic, and pathologic evidence for sensory abnormalities in ALS
    • Hammad M., Silva A., Glass J., et al. Clinical, electrophysiologic, and pathologic evidence for sensory abnormalities in ALS. Neurology 2007, 69(24):2236-2242.
    • (2007) Neurology , vol.69 , Issue.24 , pp. 2236-2242
    • Hammad, M.1    Silva, A.2    Glass, J.3
  • 10
    • 84869214263 scopus 로고    scopus 로고
    • Sural nerve pathology in ALS patients: a single-centre experience
    • Luigetti M., Conte A., Del Grande A., et al. Sural nerve pathology in ALS patients: a single-centre experience. Neurol Sci 2012, 33(5):1095-1099.
    • (2012) Neurol Sci , vol.33 , Issue.5 , pp. 1095-1099
    • Luigetti, M.1    Conte, A.2    Del Grande, A.3
  • 11
    • 0034574407 scopus 로고    scopus 로고
    • El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
    • Brooks B.R., Miller R.G., Swash M., et al. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 2000, 1(5):293-299.
    • (2000) Amyotroph Lateral Scler Other Motor Neuron Disord , vol.1 , Issue.5 , pp. 293-299
    • Brooks, B.R.1    Miller, R.G.2    Swash, M.3
  • 12
    • 39049153337 scopus 로고    scopus 로고
    • Electrodiagnostic criteria for diagnosis of ALS
    • de Carvalho M., Dengler R., Eisen A., et al. Electrodiagnostic criteria for diagnosis of ALS. Clin Neurophysiol 2008, 119(3):497-503.
    • (2008) Clin Neurophysiol , vol.119 , Issue.3 , pp. 497-503
    • de Carvalho, M.1    Dengler, R.2    Eisen, A.3
  • 13
    • 73449085803 scopus 로고    scopus 로고
    • Study of 962 patients indicates progressive muscular atrophy is a form of ALS
    • Kim W.K., Liu X., Sandner J., et al. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 2009, 73(20):1686-1692.
    • (2009) Neurology , vol.73 , Issue.20 , pp. 1686-1692
    • Kim, W.K.1    Liu, X.2    Sandner, J.3
  • 14
    • 84864132237 scopus 로고    scopus 로고
    • Primary lateral sclerosis: upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration-immunohistochemical and biochemical analyses of TDP-43
    • Kosaka T., Fu Y.J., Shiga A., et al. Primary lateral sclerosis: upper-motor-predominant amyotrophic lateral sclerosis with frontotemporal lobar degeneration-immunohistochemical and biochemical analyses of TDP-43. Neuropathology 2012, 32(4):373-384.
    • (2012) Neuropathology , vol.32 , Issue.4 , pp. 373-384
    • Kosaka, T.1    Fu, Y.J.2    Shiga, A.3
  • 15
    • 77953955752 scopus 로고    scopus 로고
    • Study of 962 patients indicates progressive muscular atrophy is a form of ALS
    • [author reply: 1926-7]
    • Pamphlett R. Study of 962 patients indicates progressive muscular atrophy is a form of ALS. Neurology 2010, 74(23):1926. [author reply: 1926-7].
    • (2010) Neurology , vol.74 , Issue.23 , pp. 1926
    • Pamphlett, R.1
  • 16
    • 34247166618 scopus 로고    scopus 로고
    • Disease course and prognostic factors of progressive muscular atrophy
    • Visser J., van den Berg-Vos R.M., Franssen H., et al. Disease course and prognostic factors of progressive muscular atrophy. Arch Neurol 2007, 64(4):522-528.
    • (2007) Arch Neurol , vol.64 , Issue.4 , pp. 522-528
    • Visser, J.1    van den Berg-Vos, R.M.2    Franssen, H.3
  • 17
    • 84869102685 scopus 로고    scopus 로고
    • Genetic overlap between apparently sporadic motor neuron diseases
    • van Blitterswijk M., Vlam L., van Es M.A., et al. Genetic overlap between apparently sporadic motor neuron diseases. PLoS One 2012, 7(11):e48983.
    • (2012) PLoS One , vol.7 , Issue.11
    • van Blitterswijk, M.1    Vlam, L.2    van Es, M.A.3
  • 18
    • 33749034719 scopus 로고    scopus 로고
    • The relationship between amyotrophic lateral sclerosis and frontotemporal dementia
    • Ringholz G.M., Greene S.R. The relationship between amyotrophic lateral sclerosis and frontotemporal dementia. Curr Neurol Neurosci Rep 2006, 6(5):387-392.
    • (2006) Curr Neurol Neurosci Rep , vol.6 , Issue.5 , pp. 387-392
    • Ringholz, G.M.1    Greene, S.R.2
  • 19
    • 80855130688 scopus 로고    scopus 로고
    • Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia
    • Fecto F., Siddique T. Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. JMol Neurosci 2011, 45(3):663-675.
    • (2011) JMol Neurosci , vol.45 , Issue.3 , pp. 663-675
    • Fecto, F.1    Siddique, T.2
  • 20
    • 0017867105 scopus 로고
    • Amyotrophic lateral sclerosis. Clinical features and prognosis
    • Rosen A.D. Amyotrophic lateral sclerosis. Clinical features and prognosis. Arch Neurol 1978, 35(10):638-642.
    • (1978) Arch Neurol , vol.35 , Issue.10 , pp. 638-642
    • Rosen, A.D.1
  • 21
    • 0034265868 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis in Brazil: 1998 national survey
    • Dietrich-Neto F., Callegaro D., Dias-Tosta E., et al. Amyotrophic lateral sclerosis in Brazil: 1998 national survey. Arq Neuropsiquiatr 2000, 58(3A):607-615.
    • (2000) Arq Neuropsiquiatr , vol.58 , Issue.3 A , pp. 607-615
    • Dietrich-Neto, F.1    Callegaro, D.2    Dias-Tosta, E.3
  • 22
    • 0029037348 scopus 로고
    • Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction
    • Haverkamp L.J., Appel V., Appel S.H. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction. Brain 1995, 118(Pt 3):707-719.
    • (1995) Brain , vol.118 , Issue.PART 3 , pp. 707-719
    • Haverkamp, L.J.1    Appel, V.2    Appel, S.H.3
  • 23
    • 79952199408 scopus 로고    scopus 로고
    • Progression in ALS is not linear but is curvilinear
    • Gordon P.H., Cheng B., Salachas F., et al. Progression in ALS is not linear but is curvilinear. JNeurol 2010, 257(10):1713-1717.
    • (2010) JNeurol , vol.257 , Issue.10 , pp. 1713-1717
    • Gordon, P.H.1    Cheng, B.2    Salachas, F.3
  • 24
    • 34447345766 scopus 로고    scopus 로고
    • Natural history and prognosis in amyotrophic lateral sclerosis
    • Taylor & Francis, New York, H.P. Mitsumoto, P.H. Gordon (Eds.)
    • Murray B. Natural history and prognosis in amyotrophic lateral sclerosis. Amyotrophic lateral sclerosis 2006, 227-255. Taylor & Francis, New York. 1st edition. H.P. Mitsumoto, P.H. Gordon (Eds.).
    • (2006) Amyotrophic lateral sclerosis , pp. 227-255
    • Murray, B.1
  • 25
    • 0018825963 scopus 로고
    • ALS in Rochester, Minnesota, 1925-1977
    • Juergens S.M., Kurland L.T., Okazaki H., et al. ALS in Rochester, Minnesota, 1925-1977. Neurology 1980, 30(5):463-470.
    • (1980) Neurology , vol.30 , Issue.5 , pp. 463-470
    • Juergens, S.M.1    Kurland, L.T.2    Okazaki, H.3
  • 26
    • 0023128148 scopus 로고
    • Amyotrophic lateral sclerosis. Its natural history
    • Caroscio J.T., Mulvihill M.N., Sterling R., et al. Amyotrophic lateral sclerosis. Its natural history. Neurol Clin 1987, 5(1):1-8.
    • (1987) Neurol Clin , vol.5 , Issue.1 , pp. 1-8
    • Caroscio, J.T.1    Mulvihill, M.N.2    Sterling, R.3
  • 27
    • 84874680813 scopus 로고    scopus 로고
    • Riluzole and prognostic factors in amyotrophic lateral sclerosis long-term and short-term survival: a population-based study of 1149 cases in Taiwan
    • Lee C.T., Chiu Y.W., Wang K.C., et al. Riluzole and prognostic factors in amyotrophic lateral sclerosis long-term and short-term survival: a population-based study of 1149 cases in Taiwan. JEpidemiol 2013, 23(1):35-40.
    • (2013) JEpidemiol , vol.23 , Issue.1 , pp. 35-40
    • Lee, C.T.1    Chiu, Y.W.2    Wang, K.C.3
  • 28
    • 84881128873 scopus 로고    scopus 로고
    • Predicting survival of patients with amyotrophic lateral sclerosis at presentation: a 15-year experience
    • Gordon P.H., Salachas F., Lacomblez L., et al. Predicting survival of patients with amyotrophic lateral sclerosis at presentation: a 15-year experience. Neurodegener Dis 2013, 12:81-90.
    • (2013) Neurodegener Dis , vol.12 , pp. 81-90
    • Gordon, P.H.1    Salachas, F.2    Lacomblez, L.3
  • 29
    • 33747179820 scopus 로고    scopus 로고
    • Slower disease progression and prolonged survival in contemporary patients with amyotrophic lateral sclerosis: is the natural history of amyotrophic lateral sclerosis changing?
    • Czaplinski A., Yen A.A., Simpson E.P., et al. Slower disease progression and prolonged survival in contemporary patients with amyotrophic lateral sclerosis: is the natural history of amyotrophic lateral sclerosis changing?. Arch Neurol 2006, 63(8):1139-1143.
    • (2006) Arch Neurol , vol.63 , Issue.8 , pp. 1139-1143
    • Czaplinski, A.1    Yen, A.A.2    Simpson, E.P.3
  • 30
    • 0026693605 scopus 로고
    • The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989
    • The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989. JNeurol Neurosurg Psychiatry 1992, 55(7):536-541.
    • (1992) JNeurol Neurosurg Psychiatry , vol.55 , Issue.7 , pp. 536-541
  • 31
    • 0027202196 scopus 로고
    • The prognosis of adult-onset motor neuron disease: a prospective study based on the Scottish Motor Neuron Disease Register
    • Chancellor A.M., Slattery J.M., Fraser H., et al. The prognosis of adult-onset motor neuron disease: a prospective study based on the Scottish Motor Neuron Disease Register. JNeurol 1993, 240(6):339-346.
    • (1993) JNeurol , vol.240 , Issue.6 , pp. 339-346
    • Chancellor, A.M.1    Slattery, J.M.2    Fraser, H.3
  • 32
    • 10044250232 scopus 로고    scopus 로고
    • Unexpected decline in survival from amyotrophic lateral sclerosis/motor neurone disease
    • Forbes R.B., Colville S., Cran G.W., et al. Unexpected decline in survival from amyotrophic lateral sclerosis/motor neurone disease. JNeurol Neurosurg Psychiatry 2004, 75(12):1753-1755.
    • (2004) JNeurol Neurosurg Psychiatry , vol.75 , Issue.12 , pp. 1753-1755
    • Forbes, R.B.1    Colville, S.2    Cran, G.W.3
  • 33
    • 84867320439 scopus 로고    scopus 로고
    • Improving survival in a large French ALS center cohort
    • Gordon P.H., Salachas F., Bruneteau G., et al. Improving survival in a large French ALS center cohort. JNeurol 2012, 259(9):1788-1792.
    • (2012) JNeurol , vol.259 , Issue.9 , pp. 1788-1792
    • Gordon, P.H.1    Salachas, F.2    Bruneteau, G.3
  • 34
    • 84861941975 scopus 로고    scopus 로고
    • Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND)
    • CD001447
    • Miller R.G., Mitchell J.D., Moore D.H. Riluzole for amyotrophic lateral sclerosis (ALS)/motor neuron disease (MND). Cochrane Database Syst Rev 2012, (3). CD001447.
    • (2012) Cochrane Database Syst Rev , Issue.3
    • Miller, R.G.1    Mitchell, J.D.2    Moore, D.H.3
  • 35
    • 0025869916 scopus 로고
    • Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-1988
    • Annegers J.F., Appel S., Lee J.R., et al. Incidence and prevalence of amyotrophic lateral sclerosis in Harris County, Texas, 1985-1988. Arch Neurol 1991, 48(6):589-593.
    • (1991) Arch Neurol , vol.48 , Issue.6 , pp. 589-593
    • Annegers, J.F.1    Appel, S.2    Lee, J.R.3
  • 36
    • 0029839053 scopus 로고    scopus 로고
    • Incidence of amyotrophic lateral sclerosis in three counties in western Washington state
    • McGuire V., Longstreth W.T., Koepsell T.D., et al. Incidence of amyotrophic lateral sclerosis in three counties in western Washington state. Neurology 1996, 47(2):571-573.
    • (1996) Neurology , vol.47 , Issue.2 , pp. 571-573
    • McGuire, V.1    Longstreth, W.T.2    Koepsell, T.D.3
  • 37
    • 0033017569 scopus 로고    scopus 로고
    • Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study
    • Traynor B.J., Codd M.B., Corr B., et al. Incidence and prevalence of ALS in Ireland, 1995-1997: a population-based study. Neurology 1999, 52(3):504-509.
    • (1999) Neurology , vol.52 , Issue.3 , pp. 504-509
    • Traynor, B.J.1    Codd, M.B.2    Corr, B.3
  • 40
    • 36549044372 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry)
    • Abhinav K., Stanton B., Johnston C., et al. Amyotrophic lateral sclerosis in South-East England: a population-based study. The South-East England register for amyotrophic lateral sclerosis (SEALS Registry). Neuroepidemiology 2007, 29(1-2):44-48.
    • (2007) Neuroepidemiology , vol.29 , Issue.1-2 , pp. 44-48
    • Abhinav, K.1    Stanton, B.2    Johnston, C.3
  • 41
    • 77953838740 scopus 로고    scopus 로고
    • Epidemiology of amyotrophic lateral sclerosis in Isfahan, Iran
    • Sajjadi M., Etemadifar M., Nemati A., et al. Epidemiology of amyotrophic lateral sclerosis in Isfahan, Iran. Eur J Neurol 2010, 17(7):984-989.
    • (2010) Eur J Neurol , vol.17 , Issue.7 , pp. 984-989
    • Sajjadi, M.1    Etemadifar, M.2    Nemati, A.3
  • 42
    • 41849097358 scopus 로고    scopus 로고
    • Incidence and prevalence of amyotrophic lateral sclerosis in Uruguay: a population-based study
    • Vazquez M.C., Ketzoian C., Legnani C., et al. Incidence and prevalence of amyotrophic lateral sclerosis in Uruguay: a population-based study. Neuroepidemiology 2008, 30(2):105-111.
    • (2008) Neuroepidemiology , vol.30 , Issue.2 , pp. 105-111
    • Vazquez, M.C.1    Ketzoian, C.2    Legnani, C.3
  • 43
    • 33846295930 scopus 로고    scopus 로고
    • Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London
    • Johnston C.A., Stanton B.R., Turner M.R., et al. Amyotrophic lateral sclerosis in an urban setting: a population based study of inner city London. JNeurol 2006, 253(12):1642-1643.
    • (2006) JNeurol , vol.253 , Issue.12 , pp. 1642-1643
    • Johnston, C.A.1    Stanton, B.R.2    Turner, M.R.3
  • 44
    • 34447340612 scopus 로고    scopus 로고
    • Epidemiology of ALS
    • Taylor & Francis, New York, H.P. Mitsumoto, P.H. Gordon (Eds.)
    • McGuire Van L.M. Epidemiology of ALS. Amyotrophic lateral sclerosis 2006, 17-41. Taylor & Francis, New York. 1st edition. H.P. Mitsumoto, P.H. Gordon (Eds.).
    • (2006) Amyotrophic lateral sclerosis , pp. 17-41
    • McGuire Van, L.M.1
  • 45
  • 46
    • 37749020600 scopus 로고    scopus 로고
    • Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues
    • Logroscino G., Traynor B.J., Hardiman O., et al. Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issues. JNeurol Neurosurg Psychiatry 2008, 79(1):6-11.
    • (2008) JNeurol Neurosurg Psychiatry , vol.79 , Issue.1 , pp. 6-11
    • Logroscino, G.1    Traynor, B.J.2    Hardiman, O.3
  • 47
    • 0037971097 scopus 로고
    • Heredity in progressive muscular atrophy as illustrated in Farr family of Vermont
    • Osler W. Heredity in progressive muscular atrophy as illustrated in Farr family of Vermont. Arch Med 1880, 4:316-320.
    • (1880) Arch Med , vol.4 , pp. 316-320
    • Osler, W.1
  • 48
    • 84857041955 scopus 로고    scopus 로고
    • Absence of consensus in diagnostic criteria for familial neurodegenerative diseases
    • Byrne S., Elamin M., Bede P., et al. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases. JNeurol Neurosurg Psychiatry 2012, 83(4):365-367.
    • (2012) JNeurol Neurosurg Psychiatry , vol.83 , Issue.4 , pp. 365-367
    • Byrne, S.1    Elamin, M.2    Bede, P.3
  • 49
    • 79955767066 scopus 로고    scopus 로고
    • Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene
    • Chio A., Borghero G., Pugliatti M., et al. Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol 2011, 68(5):594-598.
    • (2011) Arch Neurol , vol.68 , Issue.5 , pp. 594-598
    • Chio, A.1    Borghero, G.2    Pugliatti, M.3
  • 50
    • 42549146696 scopus 로고    scopus 로고
    • SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management
    • Eisen A., Mezei M.M., Stewart H.G., et al. SOD1 gene mutations in ALS patients from British Columbia, Canada: clinical features, neurophysiology and ethical issues in management. Amyotroph Lateral Scler 2008, 9(2):108-119.
    • (2008) Amyotroph Lateral Scler , vol.9 , Issue.2 , pp. 108-119
    • Eisen, A.1    Mezei, M.M.2    Stewart, H.G.3
  • 51
    • 79955774490 scopus 로고    scopus 로고
    • Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis
    • Byrne S., Walsh C., Lynch C., et al. Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis. JNeurol Neurosurg Psychiatry 2011, 82(6):623-627.
    • (2011) JNeurol Neurosurg Psychiatry , vol.82 , Issue.6 , pp. 623-627
    • Byrne, S.1    Walsh, C.2    Lynch, C.3
  • 52
    • 79955777846 scopus 로고    scopus 로고
    • Proposed criteria for familial amyotrophic lateral sclerosis
    • Byrne S., Bede P., Elamin M., et al. Proposed criteria for familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011, 12(3):157-159.
    • (2011) Amyotroph Lateral Scler , vol.12 , Issue.3 , pp. 157-159
    • Byrne, S.1    Bede, P.2    Elamin, M.3
  • 53
    • 80051586618 scopus 로고    scopus 로고
    • Modelling the effects of penetrance and family size on rates of sporadic and familial disease
    • Al-Chalabi A., Lewis C.M. Modelling the effects of penetrance and family size on rates of sporadic and familial disease. Hum Hered 2011, 71(4):281-288.
    • (2011) Hum Hered , vol.71 , Issue.4 , pp. 281-288
    • Al-Chalabi, A.1    Lewis, C.M.2
  • 54
    • 77955396350 scopus 로고    scopus 로고
    • SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations
    • Millecamps S., Salachas F., Cazeneuve C., et al. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations. JMed Genet 2010, 47(8):554-560.
    • (2010) JMed Genet , vol.47 , Issue.8 , pp. 554-560
    • Millecamps, S.1    Salachas, F.2    Cazeneuve, C.3
  • 55
    • 84872676800 scopus 로고    scopus 로고
    • Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia
    • Gellera C., Tiloca C., Del Bo R., et al. Ubiquilin 2 mutations in Italian patients with amyotrophic lateral sclerosis and frontotemporal dementia. JNeurol Neurosurg Psychiatry 2013, 84(2):183-187.
    • (2013) JNeurol Neurosurg Psychiatry , vol.84 , Issue.2 , pp. 183-187
    • Gellera, C.1    Tiloca, C.2    Del Bo, R.3
  • 56
    • 33645062075 scopus 로고    scopus 로고
    • Alocus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
    • Morita M., Al-Chalabi A., Andersen P.M., et al. Alocus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology 2006, 66(6):839-844.
    • (2006) Neurology , vol.66 , Issue.6 , pp. 839-844
    • Morita, M.1    Al-Chalabi, A.2    Andersen, P.M.3
  • 57
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • DeJesus-Hernandez M., Mackenzie I.R., Boeve B.F., et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 2011, 72(2):245-256.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 245-256
    • DeJesus-Hernandez, M.1    Mackenzie, I.R.2    Boeve, B.F.3
  • 58
    • 80054837386 scopus 로고    scopus 로고
    • Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton A.E., Majounie E., Waite A., et al. Ahexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 2011, 72(2):257-268.
    • (2011) Neuron , vol.72 , Issue.2 , pp. 257-268
    • Renton, A.E.1    Majounie, E.2    Waite, A.3
  • 59
    • 84878899164 scopus 로고    scopus 로고
    • Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis
    • Harms M.B., Cady J., Zaidman C., et al. Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis. Neurobiol Aging 2013, 34(9):2234.e13-2234.e19.
    • (2013) Neurobiol Aging , vol.34 , Issue.9
    • Harms, M.B.1    Cady, J.2    Zaidman, C.3
  • 60
    • 84870041158 scopus 로고    scopus 로고
    • How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
    • van Blitterswijk M., Dejesus-Hernandez M., Rademakers R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?. Curr Opin Neurol 2012, 25(6):689-700.
    • (2012) Curr Opin Neurol , vol.25 , Issue.6 , pp. 689-700
    • van Blitterswijk, M.1    Dejesus-Hernandez, M.2    Rademakers, R.3
  • 61
    • 84858622829 scopus 로고    scopus 로고
    • Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
    • Majounie E., Renton A.E., Mok K., et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol 2012, 11(4):323-330.
    • (2012) Lancet Neurol , vol.11 , Issue.4 , pp. 323-330
    • Majounie, E.1    Renton, A.E.2    Mok, K.3
  • 62
    • 84874246696 scopus 로고    scopus 로고
    • The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
    • Levine T.P., Daniels R.D., Gatta A.T., et al. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 2013, 29(4):499-503.
    • (2013) Bioinformatics , vol.29 , Issue.4 , pp. 499-503
    • Levine, T.P.1    Daniels, R.D.2    Gatta, A.T.3
  • 63
    • 84874266850 scopus 로고    scopus 로고
    • Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease
    • Zhang D., Iyer L.M., He F., et al. Discovery of novel DENN proteins: implications for the evolution of eukaryotic intracellular membrane structures and human disease. Front Genet 2012, 3:283.
    • (2012) Front Genet , vol.3 , pp. 283
    • Zhang, D.1    Iyer, L.M.2    He, F.3
  • 64
    • 84873093810 scopus 로고    scopus 로고
    • Apan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats
    • van der Zee J., Gijselinck I., Dillen L., et al. Apan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. Hum Mutat 2013, 34(2):363-373.
    • (2013) Hum Mutat , vol.34 , Issue.2 , pp. 363-373
    • van der Zee, J.1    Gijselinck, I.2    Dillen, L.3
  • 65
    • 84862147242 scopus 로고    scopus 로고
    • RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity
    • Echeverria G.V., Cooper T.A. RNA-binding proteins in microsatellite expansion disorders: mediators of RNA toxicity. Brain Res 2012, 1462:100-111.
    • (2012) Brain Res , vol.1462 , pp. 100-111
    • Echeverria, G.V.1    Cooper, T.A.2
  • 66
    • 84874962380 scopus 로고    scopus 로고
    • The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
    • Mori K., Weng S.M., Arzberger T., et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 2013, 339(6125):1335-1338.
    • (2013) Science , vol.339 , Issue.6125 , pp. 1335-1338
    • Mori, K.1    Weng, S.M.2    Arzberger, T.3
  • 67
    • 84874272095 scopus 로고    scopus 로고
    • Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
    • Ash P.E., Bieniek K.F., Gendron T.F., et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 2013, 77(4):639-646.
    • (2013) Neuron , vol.77 , Issue.4 , pp. 639-646
    • Ash, P.E.1    Bieniek, K.F.2    Gendron, T.F.3
  • 68
    • 84878782299 scopus 로고    scopus 로고
    • C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease
    • Harms M., Benitez B.A., Cairns N., et al. C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease. JAMA Neurol 2013, 1-6.
    • (2013) JAMA Neurol , pp. 1-6
    • Harms, M.1    Benitez, B.A.2    Cairns, N.3
  • 69
    • 84856132922 scopus 로고    scopus 로고
    • Repeat expansion in C9ORF72 in Alzheimer's disease
    • Majounie E., Abramzon Y., Renton A.E., et al. Repeat expansion in C9ORF72 in Alzheimer's disease. NEngl J Med 2012, 366(3):283-284.
    • (2012) NEngl J Med , vol.366 , Issue.3 , pp. 283-284
    • Majounie, E.1    Abramzon, Y.2    Renton, A.E.3
  • 70
    • 84874019770 scopus 로고    scopus 로고
    • Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
    • Lindquist S., Duno M., Batbayli M., et al. Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease. Clin Genet 2013, 83(3):279-283.
    • (2013) Clin Genet , vol.83 , Issue.3 , pp. 279-283
    • Lindquist, S.1    Duno, M.2    Batbayli, M.3
  • 71
    • 84861874373 scopus 로고    scopus 로고
    • Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease
    • Rollinson S., Halliwell N., Young K., et al. Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease. Neurobiol Aging 2012, 33(8):1846.e5-1846.e6.
    • (2012) Neurobiol Aging , vol.33 , Issue.8
    • Rollinson, S.1    Halliwell, N.2    Young, K.3
  • 72
    • 0027401203 scopus 로고
    • Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
    • Rosen D.R., Siddique T., Patterson D., et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993, 362(6415):59-62.
    • (1993) Nature , vol.362 , Issue.6415 , pp. 59-62
    • Rosen, D.R.1    Siddique, T.2    Patterson, D.3
  • 73
    • 40349102131 scopus 로고    scopus 로고
    • Prevalence of SOD1 mutations in the Italian ALS population
    • Chio A., Traynor B.J., Lombardo F., et al. Prevalence of SOD1 mutations in the Italian ALS population. Neurology 2008, 70(7):533-537.
    • (2008) Neurology , vol.70 , Issue.7 , pp. 533-537
    • Chio, A.1    Traynor, B.J.2    Lombardo, F.3
  • 74
    • 22144446302 scopus 로고    scopus 로고
    • SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study
    • Battistini S., Giannini F., Greco G., et al. SOD1 mutations in amyotrophic lateral sclerosis. Results from a multicenter Italian study. JNeurol 2005, 252(7):782-788.
    • (2005) JNeurol , vol.252 , Issue.7 , pp. 782-788
    • Battistini, S.1    Giannini, F.2    Greco, G.3
  • 75
    • 0032815965 scopus 로고    scopus 로고
    • Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds
    • Ratovitski T., Corson L.B., Strain J., et al. Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum Mol Genet 1999, 8(8):1451-1460.
    • (1999) Hum Mol Genet , vol.8 , Issue.8 , pp. 1451-1460
    • Ratovitski, T.1    Corson, L.B.2    Strain, J.3
  • 76
    • 74049164709 scopus 로고    scopus 로고
    • Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
    • Ilieva H., Polymenidou M., Cleveland D.W. Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. JCell Biol 2009, 187(6):761-772.
    • (2009) JCell Biol , vol.187 , Issue.6 , pp. 761-772
    • Ilieva, H.1    Polymenidou, M.2    Cleveland, D.W.3
  • 77
    • 62549116125 scopus 로고    scopus 로고
    • SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis
    • Wicks P., Abrahams S., Papps B., et al. SOD1 and cognitive dysfunction in familial amyotrophic lateral sclerosis. JNeurol 2009, 256(2):234-241.
    • (2009) JNeurol , vol.256 , Issue.2 , pp. 234-241
    • Wicks, P.1    Abrahams, S.2    Papps, B.3
  • 78
    • 0031814006 scopus 로고    scopus 로고
    • Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene
    • Cudkowicz M.E., McKenna-Yasek D., Chen C., et al. Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene. Ann Neurol 1998, 43(6):703-710.
    • (1998) Ann Neurol , vol.43 , Issue.6 , pp. 703-710
    • Cudkowicz, M.E.1    McKenna-Yasek, D.2    Chen, C.3
  • 79
    • 0031057003 scopus 로고    scopus 로고
    • Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis
    • Cudkowicz M.E., McKenna-Yasek D., Sapp P.E., et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997, 41(2):210-221.
    • (1997) Ann Neurol , vol.41 , Issue.2 , pp. 210-221
    • Cudkowicz, M.E.1    McKenna-Yasek, D.2    Sapp, P.E.3
  • 80
    • 80052362045 scopus 로고    scopus 로고
    • D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation
    • Del Grande A., Conte A., Lattante S., et al. D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation. JNeurol Sci 2011, 309(1-2):31-33.
    • (2011) JNeurol Sci , vol.309 , Issue.1-2 , pp. 31-33
    • Del Grande, A.1    Conte, A.2    Lattante, S.3
  • 81
    • 9544236295 scopus 로고    scopus 로고
    • Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients
    • Andersen P.M., Forsgren L., Binzer M., et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996, 119(Pt 4):1153-1172.
    • (1996) Brain , vol.119 , Issue.PART 4 , pp. 1153-1172
    • Andersen, P.M.1    Forsgren, L.2    Binzer, M.3
  • 82
    • 33749632259 scopus 로고    scopus 로고
    • Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Neumann M., Sampathu D.M., Kwong L.K., et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 2006, 314(5796):130-133.
    • (2006) Science , vol.314 , Issue.5796 , pp. 130-133
    • Neumann, M.1    Sampathu, D.M.2    Kwong, L.K.3
  • 83
    • 41149180753 scopus 로고    scopus 로고
    • TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Sreedharan J., Blair I.P., Tripathi V.B., et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 2008, 319(5870):1668-1672.
    • (2008) Science , vol.319 , Issue.5870 , pp. 1668-1672
    • Sreedharan, J.1    Blair, I.P.2    Tripathi, V.B.3
  • 84
    • 41949119043 scopus 로고    scopus 로고
    • TDP-43 A315T mutation in familial motor neuron disease
    • Gitcho M.A., Baloh R.H., Chakraverty S., et al. TDP-43 A315T mutation in familial motor neuron disease. Ann Neurol 2008, 63(4):535-538.
    • (2008) Ann Neurol , vol.63 , Issue.4 , pp. 535-538
    • Gitcho, M.A.1    Baloh, R.H.2    Chakraverty, S.3
  • 85
    • 42649120983 scopus 로고    scopus 로고
    • TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
    • Kabashi E., Valdmanis P.N., Dion P., et al. TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis. Nat Genet 2008, 40(5):572-574.
    • (2008) Nat Genet , vol.40 , Issue.5 , pp. 572-574
    • Kabashi, E.1    Valdmanis, P.N.2    Dion, P.3
  • 86
    • 70350721803 scopus 로고    scopus 로고
    • Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease
    • Borroni B., Bonvicini C., Alberici A., et al. Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease. Hum Mutat 2009, 30(11):E974-E983.
    • (2009) Hum Mutat , vol.30 , Issue.11
    • Borroni, B.1    Bonvicini, C.2    Alberici, A.3
  • 87
    • 32344435621 scopus 로고    scopus 로고
    • TDP43 depletion rescues aberrant CFTR exon 9 skipping
    • Ayala Y.M., Pagani F., Baralle F.E. TDP43 depletion rescues aberrant CFTR exon 9 skipping. FEBS Lett 2006, 580(5):1339-1344.
    • (2006) FEBS Lett , vol.580 , Issue.5 , pp. 1339-1344
    • Ayala, Y.M.1    Pagani, F.2    Baralle, F.E.3
  • 88
    • 17144426507 scopus 로고    scopus 로고
    • Human, Drosophila, and C. elegans TDP43: nucleic acid binding properties and splicing regulatory function
    • Ayala Y.M., Pantano S., D'Ambrogio A., et al. Human, Drosophila, and C. elegans TDP43: nucleic acid binding properties and splicing regulatory function. JMol Biol 2005, 348(3):575-588.
    • (2005) JMol Biol , vol.348 , Issue.3 , pp. 575-588
    • Ayala, Y.M.1    Pantano, S.2    D'Ambrogio, A.3
  • 89
    • 77955784599 scopus 로고    scopus 로고
    • ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS
    • Ling S.C., Albuquerque C.P., Han J.S., et al. ALS-associated mutations in TDP-43 increase its stability and promote TDP-43 complexes with FUS/TLS. Proc Natl Acad Sci USA 2010, 107(30):13318-13323.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.30 , pp. 13318-13323
    • Ling, S.C.1    Albuquerque, C.P.2    Han, J.S.3
  • 90
    • 84863609164 scopus 로고    scopus 로고
    • Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations
    • Corcia P., Valdmanis P., Millecamps S., et al. Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations. Neurology 2012, 78(19):1519-1526.
    • (2012) Neurology , vol.78 , Issue.19 , pp. 1519-1526
    • Corcia, P.1    Valdmanis, P.2    Millecamps, S.3
  • 91
    • 80052726999 scopus 로고    scopus 로고
    • Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia
    • Quadri M., Cossu G., Saddi V., et al. Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics 2011, 12(3):203-209.
    • (2011) Neurogenetics , vol.12 , Issue.3 , pp. 203-209
    • Quadri, M.1    Cossu, G.2    Saddi, V.3
  • 93
    • 61349156118 scopus 로고    scopus 로고
    • Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
    • Kwiatkowski T.J., Bosco D.A., Leclerc A.L., et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 2009, 323(5918):1205-1208.
    • (2009) Science , vol.323 , Issue.5918 , pp. 1205-1208
    • Kwiatkowski, T.J.1    Bosco, D.A.2    Leclerc, A.L.3
  • 94
    • 61349162349 scopus 로고    scopus 로고
    • Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
    • Vance C., Rogelj B., Hortobagyi T., et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 2009, 323(5918):1208-1211.
    • (2009) Science , vol.323 , Issue.5918 , pp. 1208-1211
    • Vance, C.1    Rogelj, B.2    Hortobagyi, T.3
  • 95
    • 70350045802 scopus 로고    scopus 로고
    • Mutations in FUS cause FALS and SALS in French and French Canadian populations
    • Belzil V.V., Valdmanis P.N., Dion P.A., et al. Mutations in FUS cause FALS and SALS in French and French Canadian populations. Neurology 2009, 73(15):1176-1179.
    • (2009) Neurology , vol.73 , Issue.15 , pp. 1176-1179
    • Belzil, V.V.1    Valdmanis, P.N.2    Dion, P.A.3
  • 96
    • 77950897685 scopus 로고    scopus 로고
    • The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS
    • Damme P.V., Goris A., Race V., et al. The occurrence of mutations in FUS in a Belgian cohort of patients with familial ALS. Eur J Neurol 2010, 17(5):754-756.
    • (2010) Eur J Neurol , vol.17 , Issue.5 , pp. 754-756
    • Damme, P.V.1    Goris, A.2    Race, V.3
  • 97
    • 84873988724 scopus 로고    scopus 로고
    • Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany
    • Waibel S., Neumann M., Rosenbohm A., et al. Truncating mutations in FUS/TLS give rise to a more aggressive ALS-phenotype than missense mutations: a clinico-genetic study in Germany. Eur J Neurol 2013, 20(3):540-546.
    • (2013) Eur J Neurol , vol.20 , Issue.3 , pp. 540-546
    • Waibel, S.1    Neumann, M.2    Rosenbohm, A.3
  • 98
    • 77951712967 scopus 로고    scopus 로고
    • FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion
    • Suzuki N., Aoki M., Warita H., et al. FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion. JHum Genet 2010, 55(4):252-254.
    • (2010) JHum Genet , vol.55 , Issue.4 , pp. 252-254
    • Suzuki, N.1    Aoki, M.2    Warita, H.3
  • 99
    • 79952900459 scopus 로고    scopus 로고
    • FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS
    • Tsai C.P., Soong B.W., Lin K.P., et al. FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS. Neurobiol Aging 2011, 32(3):553.e13-553.e21.
    • (2011) Neurobiol Aging , vol.32 , Issue.3
    • Tsai, C.P.1    Soong, B.W.2    Lin, K.P.3
  • 100
    • 84872327415 scopus 로고    scopus 로고
    • De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China
    • Zou Z.Y., Cui L.Y., Sun Q., et al. De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China. Neurobiol Aging 2013, 34(4):1312.e1-1312.e8.
    • (2013) Neurobiol Aging , vol.34 , Issue.4
    • Zou, Z.Y.1    Cui, L.Y.2    Sun, Q.3
  • 101
    • 79952899796 scopus 로고    scopus 로고
    • C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany
    • Drepper C., Herrmann T., Wessig C., et al. C-terminal FUS/TLS mutations in familial and sporadic ALS in Germany. Neurobiol Aging 2011, 32(3):548.e1-548.e4.
    • (2011) Neurobiol Aging , vol.32 , Issue.3
    • Drepper, C.1    Herrmann, T.2    Wessig, C.3
  • 102
    • 79952900483 scopus 로고    scopus 로고
    • FUS mutations in sporadic amyotrophic lateral sclerosis
    • Lai S.L., Abramzon Y., Schymick J.C., et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2011, 32(3):550.e1-550.e4.
    • (2011) Neurobiol Aging , vol.32 , Issue.3
    • Lai, S.L.1    Abramzon, Y.2    Schymick, J.C.3
  • 103
    • 84862794799 scopus 로고    scopus 로고
    • Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS
    • Kwon M.J., Baek W., Ki C.S., et al. Screening of the SOD1, FUS, TARDBP, ANG, and OPTN mutations in Korean patients with familial and sporadic ALS. Neurobiol Aging 2012, 33(5):1017.e17-1017.e23.
    • (2012) Neurobiol Aging , vol.33 , Issue.5
    • Kwon, M.J.1    Baek, W.2    Ki, C.S.3
  • 104
    • 77951784437 scopus 로고    scopus 로고
    • De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis
    • DeJesus-Hernandez M., Kocerha J., Finch N., et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat 2010, 31(5):E1377-E1389.
    • (2010) Hum Mutat , vol.31 , Issue.5
    • DeJesus-Hernandez, M.1    Kocerha, J.2    Finch, N.3
  • 105
    • 79952901359 scopus 로고    scopus 로고
    • Ade novo missense mutation of the FUS gene in a "true" sporadic ALS case
    • Chio A., Calvo A., Moglia C., et al. Ade novo missense mutation of the FUS gene in a "true" sporadic ALS case. Neurobiol Aging 2011, 32(3):553.e23-553.e26.
    • (2011) Neurobiol Aging , vol.32 , Issue.3
    • Chio, A.1    Calvo, A.2    Moglia, C.3
  • 106
    • 84862908655 scopus 로고    scopus 로고
    • Ayeast functional screen predicts new candidate ALS disease genes
    • Couthouis J., Hart M.P., Shorter J., et al. Ayeast functional screen predicts new candidate ALS disease genes. Proc Natl Acad Sci USA 2011, 108(52):20881-20890.
    • (2011) Proc Natl Acad Sci USA , vol.108 , Issue.52 , pp. 20881-20890
    • Couthouis, J.1    Hart, M.P.2    Shorter, J.3
  • 107
    • 84863507711 scopus 로고    scopus 로고
    • Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
    • Couthouis J., Hart M.P., Erion R., et al. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum Mol Genet 2012, 21(13):2899-2911.
    • (2012) Hum Mol Genet , vol.21 , Issue.13 , pp. 2899-2911
    • Couthouis, J.1    Hart, M.P.2    Erion, R.3
  • 108
    • 77955792022 scopus 로고    scopus 로고
    • ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
    • Dormann D., Rodde R., Edbauer D., et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J 2010, 29(16):2841-2857.
    • (2010) EMBO J , vol.29 , Issue.16 , pp. 2841-2857
    • Dormann, D.1    Rodde, R.2    Edbauer, D.3
  • 109
    • 77950902239 scopus 로고    scopus 로고
    • Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
    • Hewitt C., Kirby J., Highley J.R., et al. Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 2010, 67(4):455-461.
    • (2010) Arch Neurol , vol.67 , Issue.4 , pp. 455-461
    • Hewitt, C.1    Kirby, J.2    Highley, J.R.3
  • 110
    • 77952111070 scopus 로고    scopus 로고
    • FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis
    • Blair I.P., Williams K.L., Warraich S.T., et al. FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. JNeurol Neurosurg Psychiatry 2010, 81(6):639-645.
    • (2010) JNeurol Neurosurg Psychiatry , vol.81 , Issue.6 , pp. 639-645
    • Blair, I.P.1    Williams, K.L.2    Warraich, S.T.3
  • 111
    • 77956384199 scopus 로고    scopus 로고
    • Novel missense and truncating mutations in FUS/TLS in familial ALS
    • Waibel S., Neumann M., Rabe M., et al. Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology 2010, 75(9):815-817.
    • (2010) Neurology , vol.75 , Issue.9 , pp. 815-817
    • Waibel, S.1    Neumann, M.2    Rabe, M.3
  • 112
    • 77955897545 scopus 로고    scopus 로고
    • Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
    • Baumer D., Hilton D., Paine S.M., et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 2010, 75(7):611-618.
    • (2010) Neurology , vol.75 , Issue.7 , pp. 611-618
    • Baumer, D.1    Hilton, D.2    Paine, S.M.3
  • 113
    • 84858334126 scopus 로고    scopus 로고
    • FUS and TDP43 genetic variability in FTD and CBS
    • 1016.e9-17
    • Huey E.D., Ferrari R., Moreno J.H., et al. FUS and TDP43 genetic variability in FTD and CBS. Neurobiol Aging 2012, 33(5). 1016.e9-17.
    • (2012) Neurobiol Aging , vol.33 , Issue.5
    • Huey, E.D.1    Ferrari, R.2    Moreno, J.H.3
  • 114
    • 84873894614 scopus 로고    scopus 로고
    • Genetic analysis of the FUS/TLS gene in essential tremor
    • Parmalee N., Mirzozoda K., Kisselev S., et al. Genetic analysis of the FUS/TLS gene in essential tremor. Eur J Neurol 2013, 20(3):534-539.
    • (2013) Eur J Neurol , vol.20 , Issue.3 , pp. 534-539
    • Parmalee, N.1    Mirzozoda, K.2    Kisselev, S.3
  • 115
    • 80052580969 scopus 로고    scopus 로고
    • Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
    • Deng H.X., Chen W., Hong S.T., et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 2011, 477(7363):211-215.
    • (2011) Nature , vol.477 , Issue.7363 , pp. 211-215
    • Deng, H.X.1    Chen, W.2    Hong, S.T.3
  • 116
    • 84863480094 scopus 로고    scopus 로고
    • UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis
    • Daoud H., Suhail H., Szuto A., et al. UBQLN2 mutations are rare in French and French-Canadian amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(9):2230.e1-2230.e5.
    • (2012) Neurobiol Aging , vol.33 , Issue.9
    • Daoud, H.1    Suhail, H.2    Szuto, A.3
  • 117
    • 84856975767 scopus 로고    scopus 로고
    • Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis
    • Millecamps S., Corcia P., Cazeneuve C., et al. Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(4):839.e1-839.e3.
    • (2012) Neurobiol Aging , vol.33 , Issue.4
    • Millecamps, S.1    Corcia, P.2    Cazeneuve, C.3
  • 118
    • 84863451689 scopus 로고    scopus 로고
    • UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands
    • van Doormaal P.T., van Rheenen W., van Blitterswijk M., et al. UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands. Neurobiol Aging 2012, 33(9):2233.e7-2233.e8.
    • (2012) Neurobiol Aging , vol.33 , Issue.9
    • van Doormaal, P.T.1    van Rheenen, W.2    van Blitterswijk, M.3
  • 119
    • 84864380051 scopus 로고    scopus 로고
    • UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
    • 2527.e3-10
    • Williams K.L., Warraich S.T., Yang S., et al. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(10). 2527.e3-10.
    • (2012) Neurobiol Aging , vol.33 , Issue.10
    • Williams, K.L.1    Warraich, S.T.2    Yang, S.3
  • 120
    • 84866773422 scopus 로고    scopus 로고
    • Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
    • Synofzik M., Maetzler W., Grehl T., et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol Aging 2012, 33(12):2949.e13-2949.e17.
    • (2012) Neurobiol Aging , vol.33 , Issue.12
    • Synofzik, M.1    Maetzler, W.2    Grehl, T.3
  • 121
    • 84875279430 scopus 로고    scopus 로고
    • Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients
    • Dillen L., Van Langenhove T., Engelborghs S., et al. Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients. Neurobiol Aging 2013, 34(6):1711.e1-1711.e5.
    • (2013) Neurobiol Aging , vol.34 , Issue.6
    • Dillen, L.1    Van Langenhove, T.2    Engelborghs, S.3
  • 122
    • 84862756869 scopus 로고    scopus 로고
    • Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
    • Brettschneider J., Van Deerlin V.M., Robinson J.L., et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol 2012, 123(6):825-839.
    • (2012) Acta Neuropathol , vol.123 , Issue.6 , pp. 825-839
    • Brettschneider, J.1    Van Deerlin, V.M.2    Robinson, J.L.3
  • 123
    • 84865235172 scopus 로고    scopus 로고
    • Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
    • Wu C.H., Fallini C., Ticozzi N., et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 2012, 488(7412):499-503.
    • (2012) Nature , vol.488 , Issue.7412 , pp. 499-503
    • Wu, C.H.1    Fallini, C.2    Ticozzi, N.3
  • 124
    • 84875251623 scopus 로고    scopus 로고
    • Anovel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts
    • Ingre C., Landers J.E., Rizik N., et al. Anovel phosphorylation site mutation in profilin 1 revealed in a large screen of US, Nordic, and German amyotrophic lateral sclerosis/frontotemporal dementia cohorts. Neurobiol Aging 2012, 34(6):1708.e1-1708.e6.
    • (2012) Neurobiol Aging , vol.34 , Issue.6
    • Ingre, C.1    Landers, J.E.2    Rizik, N.3
  • 125
    • 84875251367 scopus 로고    scopus 로고
    • Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin
    • Zou Z.Y., Sun Q., Liu M.S., et al. Mutations in the profilin 1 gene are not common in amyotrophic lateral sclerosis of Chinese origin. Neurobiol Aging 2013, 34(6):1713.e5-1713.e6.
    • (2013) Neurobiol Aging , vol.34 , Issue.6
    • Zou, Z.Y.1    Sun, Q.2    Liu, M.S.3
  • 126
    • 84875272260 scopus 로고    scopus 로고
    • Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France
    • Lattante S., Le Ber I., Camuzat A., et al. Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France. Neurobiol Aging 2012, 34(6):1709.e1-1709.e2.
    • (2012) Neurobiol Aging , vol.34 , Issue.6
    • Lattante, S.1    Le Ber, I.2    Camuzat, A.3
  • 127
    • 84872346600 scopus 로고    scopus 로고
    • Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients
    • Daoud H., Dobrzeniecka S., Camu W., et al. Mutation analysis of PFN1 in familial amyotrophic lateral sclerosis patients. Neurobiol Aging 2013, 34(4):1311.e1-1311.e2.
    • (2013) Neurobiol Aging , vol.34 , Issue.4
    • Daoud, H.1    Dobrzeniecka, S.2    Camu, W.3
  • 128
    • 84873434999 scopus 로고    scopus 로고
    • Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia
    • 1517.e9-10
    • Tiloca C., Ticozzi N., Pensato V., et al. Screening of the PFN1 gene in sporadic amyotrophic lateral sclerosis and in frontotemporal dementia. Neurobiol Aging 2013, 34(5). 1517.e9-10.
    • (2013) Neurobiol Aging , vol.34 , Issue.5
    • Tiloca, C.1    Ticozzi, N.2    Pensato, V.3
  • 129
    • 84255163614 scopus 로고    scopus 로고
    • Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis
    • van Es M.A., Schelhaas H.J., van Vught P.W., et al. Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol 2011, 70(6):964-973.
    • (2011) Ann Neurol , vol.70 , Issue.6 , pp. 964-973
    • van Es, M.A.1    Schelhaas, H.J.2    van Vught, P.W.3
  • 130
    • 84869481231 scopus 로고    scopus 로고
    • Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons
    • Thiyagarajan N., Ferguson R., Subramanian V., et al. Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons. Nat Commun 2012, 3:1121.
    • (2012) Nat Commun , vol.3 , pp. 1121
    • Thiyagarajan, N.1    Ferguson, R.2    Subramanian, V.3
  • 131
    • 84880161266 scopus 로고    scopus 로고
    • Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation
    • Kirby J., Highley J.R., Cox L., et al. Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation. Neuropathol Appl Neurobiol 2013, 39(5):562-571.
    • (2013) Neuropathol Appl Neurobiol , vol.39 , Issue.5 , pp. 562-571
    • Kirby, J.1    Highley, J.R.2    Cox, L.3
  • 132
    • 77952419246 scopus 로고    scopus 로고
    • Mutations of optineurin in amyotrophic lateral sclerosis
    • Maruyama H., Morino H., Ito H., et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 2010, 465(7295):223-226.
    • (2010) Nature , vol.465 , Issue.7295 , pp. 223-226
    • Maruyama, H.1    Morino, H.2    Ito, H.3
  • 133
    • 84858335904 scopus 로고    scopus 로고
    • Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients
    • van Blitterswijk M., van Vught P.W., van Es M.A., et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiol Aging 2012, 33(5):1016.e1-1016.e7.
    • (2012) Neurobiol Aging , vol.33 , Issue.5
    • van Blitterswijk, M.1    van Vught, P.W.2    van Es, M.A.3
  • 134
    • 80053629733 scopus 로고    scopus 로고
    • Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
    • Del Bo R., Tiloca C., Pensato V., et al. Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis. JNeurol Neurosurg Psychiatry 2011, 82(11):1239-1243.
    • (2011) JNeurol Neurosurg Psychiatry , vol.82 , Issue.11 , pp. 1239-1243
    • Del Bo, R.1    Tiloca, C.2    Pensato, V.3
  • 135
    • 84855582418 scopus 로고    scopus 로고
    • Optineurin mutations in Japanese amyotrophic lateral sclerosis
    • Iida A., Hosono N., Sano M., et al. Optineurin mutations in Japanese amyotrophic lateral sclerosis. JNeurol Neurosurg Psychiatry 2012, 83(2):233-235.
    • (2012) JNeurol Neurosurg Psychiatry , vol.83 , Issue.2 , pp. 233-235
    • Iida, A.1    Hosono, N.2    Sano, M.3
  • 136
    • 1842483843 scopus 로고    scopus 로고
    • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
    • Watts G.D., Wymer J., Kovach M.J., et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nat Genet 2004, 36(4):377-381.
    • (2004) Nat Genet , vol.36 , Issue.4 , pp. 377-381
    • Watts, G.D.1    Wymer, J.2    Kovach, M.J.3
  • 137
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • Johnson J.O., Mandrioli J., Benatar M., et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 2010, 68(5):857-864.
    • (2010) Neuron , vol.68 , Issue.5 , pp. 857-864
    • Johnson, J.O.1    Mandrioli, J.2    Benatar, M.3
  • 138
    • 84856958110 scopus 로고    scopus 로고
    • VCP mutations in familial and sporadic amyotrophic lateral sclerosis
    • 837.e7-13
    • Koppers M., van Blitterswijk M.M., Vlam L., et al. VCP mutations in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(4). 837.e7-13.
    • (2012) Neurobiol Aging , vol.33 , Issue.4
    • Koppers, M.1    van Blitterswijk, M.M.2    Vlam, L.3
  • 139
    • 80155141546 scopus 로고    scopus 로고
    • Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS
    • DeJesus-Hernandez M., Desaro P., Johnston A., et al. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology 2011, 77(11):1102-1103.
    • (2011) Neurology , vol.77 , Issue.11 , pp. 1102-1103
    • DeJesus-Hernandez, M.1    Desaro, P.2    Johnston, A.3
  • 140
    • 84861191585 scopus 로고    scopus 로고
    • Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis
    • Williams K.L., Solski J.A., Nicholson G.A., et al. Mutation analysis of VCP in familial and sporadic amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(7):1488.e15-1488.e16.
    • (2012) Neurobiol Aging , vol.33 , Issue.7
    • Williams, K.L.1    Solski, J.A.2    Nicholson, G.A.3
  • 141
    • 84855809916 scopus 로고    scopus 로고
    • Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis
    • Tiloca C., Ratti A., Pensato V., et al. Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(3):630.e1-630.e2.
    • (2012) Neurobiol Aging , vol.33 , Issue.3
    • Tiloca, C.1    Ratti, A.2    Pensato, V.3
  • 142
    • 2442658908 scopus 로고    scopus 로고
    • DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
    • Chen Y.Z., Bennett C.L., Huynh H.M., et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am J Hum Genet 2004, 74(6):1128-1135.
    • (2004) Am J Hum Genet , vol.74 , Issue.6 , pp. 1128-1135
    • Chen, Y.Z.1    Bennett, C.L.2    Huynh, H.M.3
  • 143
    • 62549146705 scopus 로고    scopus 로고
    • Anovel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis
    • Zhao Z.H., Chen W.Z., Wu Z.Y., et al. Anovel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2009, 10(2):118-122.
    • (2009) Amyotroph Lateral Scler , vol.10 , Issue.2 , pp. 118-122
    • Zhao, Z.H.1    Chen, W.Z.2    Wu, Z.Y.3
  • 144
    • 79955762130 scopus 로고    scopus 로고
    • Senataxin mutations and amyotrophic lateral sclerosis
    • Hirano M., Quinzii C.M., Mitsumoto H., et al. Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler 2011, 12(3):223-227.
    • (2011) Amyotroph Lateral Scler , vol.12 , Issue.3 , pp. 223-227
    • Hirano, M.1    Quinzii, C.M.2    Mitsumoto, H.3
  • 145
    • 6344257200 scopus 로고    scopus 로고
    • Amutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
    • Nishimura A.L., Mitne-Neto M., Silva H.C., et al. Amutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am J Hum Genet 2004, 75(5):822-831.
    • (2004) Am J Hum Genet , vol.75 , Issue.5 , pp. 822-831
    • Nishimura, A.L.1    Mitne-Neto, M.2    Silva, H.C.3
  • 146
    • 34249826073 scopus 로고    scopus 로고
    • Mutations in VAPB are not associated with sporadic ALS
    • Kirby J., Hewamadduma C.A., Hartley J.A., et al. Mutations in VAPB are not associated with sporadic ALS. Neurology 2007, 68(22):1951-1953.
    • (2007) Neurology , vol.68 , Issue.22 , pp. 1951-1953
    • Kirby, J.1    Hewamadduma, C.A.2    Hartley, J.A.3
  • 147
    • 33745322657 scopus 로고    scopus 로고
    • Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
    • Conforti F.L., Sprovieri T., Mazzei R., et al. Sporadic ALS is not associated with VAPB gene mutations in Southern Italy. JNegat Results Biomed 2006, 5:7.
    • (2006) JNegat Results Biomed , vol.5 , pp. 7
    • Conforti, F.L.1    Sprovieri, T.2    Mazzei, R.3
  • 148
    • 78650048929 scopus 로고    scopus 로고
    • Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis
    • Chen H.J., Anagnostou G., Chai A., et al. Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. JBiol Chem 2010, 285(51):40266-40281.
    • (2010) JBiol Chem , vol.285 , Issue.51 , pp. 40266-40281
    • Chen, H.J.1    Anagnostou, G.2    Chai, A.3
  • 149
    • 84878487878 scopus 로고    scopus 로고
    • Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis
    • Kabashi E., El Oussini H., Bercier V., et al. Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. Hum Mol Genet 2013, 22(12):2350-2360.
    • (2013) Hum Mol Genet , vol.22 , Issue.12 , pp. 2350-2360
    • Kabashi, E.1    El Oussini, H.2    Bercier, V.3
  • 150
    • 58049192812 scopus 로고    scopus 로고
    • Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
    • Chow C.Y., Landers J.E., Bergren S.K., et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am J Hum Genet 2009, 84(1):85-88.
    • (2009) Am J Hum Genet , vol.84 , Issue.1 , pp. 85-88
    • Chow, C.Y.1    Landers, J.E.2    Bergren, S.K.3
  • 151
    • 77952194773 scopus 로고    scopus 로고
    • Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
    • Mitchell J., Paul P., Chen H.J., et al. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc Natl Acad Sci USA 2010, 107(16):7556-7561.
    • (2010) Proc Natl Acad Sci USA , vol.107 , Issue.16 , pp. 7556-7561
    • Mitchell, J.1    Paul, P.2    Chen, H.J.3
  • 152
    • 84875605133 scopus 로고    scopus 로고
    • Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
    • Kim H.J., Kim N.C., Wang Y.D., et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature 2013, 495(7442):467-473.
    • (2013) Nature , vol.495 , Issue.7442 , pp. 467-473
    • Kim, H.J.1    Kim, N.C.2    Wang, Y.D.3
  • 153
    • 80855150639 scopus 로고    scopus 로고
    • SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
    • Fecto F., Yan J., Vemula S.P., et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch Neurol 2011, 68(11):1440-1446.
    • (2011) Arch Neurol , vol.68 , Issue.11 , pp. 1440-1446
    • Fecto, F.1    Yan, J.2    Vemula, S.P.3
  • 154
    • 84867543551 scopus 로고    scopus 로고
    • SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
    • Rubino E., Rainero I., Chio A., et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology 2012, 79(15):1556-1562.
    • (2012) Neurology , vol.79 , Issue.15 , pp. 1556-1562
    • Rubino, E.1    Rainero, I.2    Chio, A.3
  • 155
    • 84873653136 scopus 로고    scopus 로고
    • Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis
    • Hirano M., Nakamura Y., Saigoh K., et al. Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. Neurology 2013, 80(5):458-463.
    • (2013) Neurology , vol.80 , Issue.5 , pp. 458-463
    • Hirano, M.1    Nakamura, Y.2    Saigoh, K.3
  • 156
    • 84876533723 scopus 로고    scopus 로고
    • Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
    • Teyssou E., Takeda T., Lebon V., et al. Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology. Acta Neuropathol 2013, 125(4):511-522.
    • (2013) Acta Neuropathol , vol.125 , Issue.4 , pp. 511-522
    • Teyssou, E.1    Takeda, T.2    Lebon, V.3
  • 157
    • 0037382240 scopus 로고    scopus 로고
    • Mutant dynactin in motor neuron disease
    • Puls I., Jonnakuty C., LaMonte B.H., et al. Mutant dynactin in motor neuron disease. Nat Genet 2003, 33(4):455-456.
    • (2003) Nat Genet , vol.33 , Issue.4 , pp. 455-456
    • Puls, I.1    Jonnakuty, C.2    LaMonte, B.H.3
  • 158
    • 4143084861 scopus 로고    scopus 로고
    • Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
    • Munch C., Sedlmeier R., Meyer T., et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 2004, 63(4):724-726.
    • (2004) Neurology , vol.63 , Issue.4 , pp. 724-726
    • Munch, C.1    Sedlmeier, R.2    Meyer, T.3
  • 159
    • 84871192467 scopus 로고    scopus 로고
    • Extensive genetics of ALS: a population-based study in Italy
    • Chio A., Calvo A., Mazzini L., et al. Extensive genetics of ALS: a population-based study in Italy. Neurology 2012, 79(19):1983-1989.
    • (2012) Neurology , vol.79 , Issue.19 , pp. 1983-1989
    • Chio, A.1    Calvo, A.2    Mazzini, L.3
  • 160
    • 84859612326 scopus 로고    scopus 로고
    • Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS
    • Diekstra F.P., Saris C.G., van Rheenen W., et al. Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. PLoS One 2012, 7(4):e35333.
    • (2012) PLoS One , vol.7 , Issue.4
    • Diekstra, F.P.1    Saris, C.G.2    van Rheenen, W.3
  • 161
    • 77956155218 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
    • Elden A.C., Kim H.J., Hart M.P., et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 2010, 466(7310):1069-1077.
    • (2010) Nature , vol.466 , Issue.7310 , pp. 1069-1077
    • Elden, A.C.1    Kim, H.J.2    Hart, M.P.3
  • 162
    • 79953176451 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
    • Lee T., Li Y.R., Ingre C., et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum Mol Genet 2011, 20(9):1697-1700.
    • (2011) Hum Mol Genet , vol.20 , Issue.9 , pp. 1697-1700
    • Lee, T.1    Li, Y.R.2    Ingre, C.3
  • 163
    • 79959653680 scopus 로고    scopus 로고
    • Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
    • Van Damme P., Veldink J.H., van Blitterswijk M., et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 2011, 76(24):2066-2072.
    • (2011) Neurology , vol.76 , Issue.24 , pp. 2066-2072
    • Van Damme, P.1    Veldink, J.H.2    van Blitterswijk, M.3
  • 164
    • 79960811611 scopus 로고    scopus 로고
    • Ataxin-2 repeat-length variation and neurodegeneration
    • Ross O.A., Rutherford N.J., Baker M., et al. Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet 2011, 20(16):3207-3212.
    • (2011) Hum Mol Genet , vol.20 , Issue.16 , pp. 3207-3212
    • Ross, O.A.1    Rutherford, N.J.2    Baker, M.3
  • 165
    • 79958763814 scopus 로고    scopus 로고
    • ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion
    • Soraru G., Clementi M., Forzan M., et al. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology 2011, 76(23):2030-2031.
    • (2011) Neurology , vol.76 , Issue.23 , pp. 2030-2031
    • Soraru, G.1    Clementi, M.2    Forzan, M.3
  • 166
    • 79958746230 scopus 로고    scopus 로고
    • Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis
    • Daoud H., Belzil V., Martins S., et al. Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis. Arch Neurol 2011, 68(6):739-742.
    • (2011) Arch Neurol , vol.68 , Issue.6 , pp. 739-742
    • Daoud, H.1    Belzil, V.2    Martins, S.3
  • 167
    • 81955162888 scopus 로고    scopus 로고
    • The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
    • Gispert S., Kurz A., Waibel S., et al. The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol Dis 2012, 45(1):356-361.
    • (2012) Neurobiol Dis , vol.45 , Issue.1 , pp. 356-361
    • Gispert, S.1    Kurz, A.2    Waibel, S.3
  • 168
    • 84861888532 scopus 로고    scopus 로고
    • ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling
    • Gellera C., Ticozzi N., Pensato V., et al. ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counseling. Neurobiol Aging 2012, 33(8):1847.e15-1847.e21.
    • (2012) Neurobiol Aging , vol.33 , Issue.8
    • Gellera, C.1    Ticozzi, N.2    Pensato, V.3
  • 169
    • 84865176096 scopus 로고    scopus 로고
    • ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population
    • Lahut S., Omur O., Uyan O., et al. ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population. PLoS One 2012, 7(8):e42956.
    • (2012) PLoS One , vol.7 , Issue.8
    • Lahut, S.1    Omur, O.2    Uyan, O.3
  • 170
    • 80051566617 scopus 로고    scopus 로고
    • Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis
    • Chen Y., Huang R., Yang Y., et al. Ataxin-2 intermediate-length polyglutamine: a possible risk factor for Chinese patients with amyotrophic lateral sclerosis. Neurobiol Aging 2011, 32(10):1925.e1-1925.e5.
    • (2011) Neurobiol Aging , vol.32 , Issue.10
    • Chen, Y.1    Huang, R.2    Yang, Y.3
  • 171
    • 84873033993 scopus 로고    scopus 로고
    • Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis
    • Farg M.A., Soo K.Y., Warraich S.T., et al. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis. Hum Mol Genet 2013, 22(4):717-728.
    • (2013) Hum Mol Genet , vol.22 , Issue.4 , pp. 717-728
    • Farg, M.A.1    Soo, K.Y.2    Warraich, S.T.3
  • 172
    • 84863431578 scopus 로고    scopus 로고
    • ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications
    • Hart M.P., Gitler A.D. ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. JNeurosci 2012, 32(27):9133-9142.
    • (2012) JNeurosci , vol.32 , Issue.27 , pp. 9133-9142
    • Hart, M.P.1    Gitler, A.D.2
  • 173
    • 70349592269 scopus 로고    scopus 로고
    • Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
    • van Es M.A., Veldink J.H., Saris C.G., et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nat Genet 2009, 41(10):1083-1087.
    • (2009) Nat Genet , vol.41 , Issue.10 , pp. 1083-1087
    • van Es, M.A.1    Veldink, J.H.2    Saris, C.G.3
  • 174
    • 84855795589 scopus 로고    scopus 로고
    • UNC13A is a modifier of survival in amyotrophic lateral sclerosis
    • Diekstra F.P., van Vught P.W., van Rheenen W., et al. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol Aging 2012, 33(3):630.e3-630.e8.
    • (2012) Neurobiol Aging , vol.33 , Issue.3
    • Diekstra, F.P.1    van Vught, P.W.2    van Rheenen, W.3
  • 175
    • 84868096807 scopus 로고    scopus 로고
    • UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study
    • Chio A., Mora G., Restagno G., et al. UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Neurobiol Aging 2013, 34(1):357.e1-357.e5.
    • (2013) Neurobiol Aging , vol.34 , Issue.1
    • Chio, A.1    Mora, G.2    Restagno, G.3
  • 176
    • 39749119374 scopus 로고    scopus 로고
    • Agenome-wide association study of sporadic ALS in a homogenous Irish population
    • Cronin S., Berger S., Ding J., et al. Agenome-wide association study of sporadic ALS in a homogenous Irish population. Hum Mol Genet 2008, 17(5):768-774.
    • (2008) Hum Mol Genet , vol.17 , Issue.5 , pp. 768-774
    • Cronin, S.1    Berger, S.2    Ding, J.3
  • 177
    • 50449111007 scopus 로고    scopus 로고
    • DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients
    • Del Bo R., Ghezzi S., Corti S., et al. DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients. JNeurol Neurosurg Psychiatry 2008, 79(9):1085.
    • (2008) JNeurol Neurosurg Psychiatry , vol.79 , Issue.9 , pp. 1085
    • Del Bo, R.1    Ghezzi, S.2    Corti, S.3
  • 178
    • 37549062995 scopus 로고    scopus 로고
    • Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
    • van Es M.A., van Vught P.W., Blauw H.M., et al. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis. Nat Genet 2008, 40(1):29-31.
    • (2008) Nat Genet , vol.40 , Issue.1 , pp. 29-31
    • van Es, M.A.1    van Vught, P.W.2    Blauw, H.M.3
  • 179
    • 58349115384 scopus 로고    scopus 로고
    • Screening for replication of genome-wide SNP associations in sporadic ALS
    • Cronin S., Tomik B., Bradley D.G., et al. Screening for replication of genome-wide SNP associations in sporadic ALS. Eur J Hum Genet 2009, 17(2):213-218.
    • (2009) Eur J Hum Genet , vol.17 , Issue.2 , pp. 213-218
    • Cronin, S.1    Tomik, B.2    Bradley, D.G.3
  • 180
    • 64549117768 scopus 로고    scopus 로고
    • Atwo-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
    • Chio A., Schymick J.C., Restagno G., et al. Atwo-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet 2009, 18(8):1524-1532.
    • (2009) Hum Mol Genet , vol.18 , Issue.8 , pp. 1524-1532
    • Chio, A.1    Schymick, J.C.2    Restagno, G.3
  • 181
    • 79954570110 scopus 로고    scopus 로고
    • No association of DPP6 with amyotrophic lateral sclerosis in an Italian population
    • Fogh I., D'Alfonso S., Gellera C., et al. No association of DPP6 with amyotrophic lateral sclerosis in an Italian population. Neurobiol Aging 2011, 32(5):966-967.
    • (2011) Neurobiol Aging , vol.32 , Issue.5 , pp. 966-967
    • Fogh, I.1    D'Alfonso, S.2    Gellera, C.3
  • 182
    • 74549224513 scopus 로고    scopus 로고
    • Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients
    • Li X.G., Zhang J.H., Xie M.Q., et al. Association between DPP6 polymorphism and the risk of sporadic amyotrophic lateral sclerosis in Chinese patients. Chin Med J (Engl) 2009, 122(24):2989-2992.
    • (2009) Chin Med J (Engl) , vol.122 , Issue.24 , pp. 2989-2992
    • Li, X.G.1    Zhang, J.H.2    Xie, M.Q.3
  • 183
    • 84859015231 scopus 로고    scopus 로고
    • Ahigh-density genome-wide association screen of sporadic ALS in US veterans
    • Kwee L.C., Liu Y., Haynes C., et al. Ahigh-density genome-wide association screen of sporadic ALS in US veterans. PLoS One 2012, 7(3):e32768.
    • (2012) PLoS One , vol.7 , Issue.3
    • Kwee, L.C.1    Liu, Y.2    Haynes, C.3
  • 184
    • 58749097964 scopus 로고    scopus 로고
    • Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
    • Simpson C.L., Lemmens R., Miskiewicz K., et al. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum Mol Genet 2009, 18(3):472-481.
    • (2009) Hum Mol Genet , vol.18 , Issue.3 , pp. 472-481
    • Simpson, C.L.1    Lemmens, R.2    Miskiewicz, K.3
  • 185
    • 33646671515 scopus 로고    scopus 로고
    • The effect of noninvasive ventilation on ALS patients and their caregivers
    • Mustfa N., Walsh E., Bryant V., et al. The effect of noninvasive ventilation on ALS patients and their caregivers. Neurology 2006, 66(8):1211-1217.
    • (2006) Neurology , vol.66 , Issue.8 , pp. 1211-1217
    • Mustfa, N.1    Walsh, E.2    Bryant, V.3
  • 186
    • 34249981738 scopus 로고    scopus 로고
    • Early use of non-invasive ventilation prolongs survival in subjects with ALS
    • Lechtzin N., Scott Y., Busse A.M., et al. Early use of non-invasive ventilation prolongs survival in subjects with ALS. Amyotroph Lateral Scler 2007, 8(3):185-188.
    • (2007) Amyotroph Lateral Scler , vol.8 , Issue.3 , pp. 185-188
    • Lechtzin, N.1    Scott, Y.2    Busse, A.M.3
  • 187
    • 79953294125 scopus 로고    scopus 로고
    • Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: effect on survival
    • Spataro R., Ficano L., Piccoli F., et al. Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: effect on survival. JNeurol Sci 2011, 304(1-2):44-48.
    • (2011) JNeurol Sci , vol.304 , Issue.1-2 , pp. 44-48
    • Spataro, R.1    Ficano, L.2    Piccoli, F.3
  • 188
    • 0141628879 scopus 로고    scopus 로고
    • Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000
    • Traynor B.J., Alexander M., Corr B., et al. Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000. JNeurol Neurosurg Psychiatry 2003, 74(9):1258-1261.
    • (2003) JNeurol Neurosurg Psychiatry , vol.74 , Issue.9 , pp. 1258-1261
    • Traynor, B.J.1    Alexander, M.2    Corr, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.