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Online Resource

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, Aude ; Kenna, Kevin P. ; Renton, Alan E. ; [et al.]

Elsevier BV ; 2018

In: Neuron Vol. 97, No. 6 ( 2018-03), p. 1268-1283.e6

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In: Neuron, Elsevier BV, Vol. 97, No. 6 ( 2018-03), p. 1268-1283.e6

Type of Medium: Online Resource

ISSN: 0896-6273

URL: Article

DOI: 10.1016/j.neuron.2018.02.027

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 2001944-0

SSG: 12

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Genome-Wide Analyses Identify KIF5A as a Novel ALS Gene

Nicolas, Aude ; Kenna, Kevin P. ; Renton, Alan E. ; [et al.]

Elsevier BV ; 2018

In: SSRN Electronic Journal

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In: SSRN Electronic Journal, Elsevier BV

Type of Medium: Online Resource

ISSN: 1556-5068

URL: Article

DOI: 10.2139/ssrn.3155776

Language: English

Publisher: Elsevier BV

Publication Date: 2018

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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis

van Es, Michael A. ; Schelhaas, Helenius J. ; van Vught, Paul W. J. ; [et al.]

Wiley ; 2011

In: Annals of Neurology Vol. 70, No. 6 ( 2011-12), p. 964-973

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In: Annals of Neurology, Wiley, Vol. 70, No. 6 ( 2011-12), p. 964-973

Type of Medium: Online Resource

ISSN: 0364-5134

URL: Article

DOI: 10.1002/ana.22611

Language: English

Publisher: Wiley

Publication Date: 2011

detail.hit.zdb_id: 2037912-2

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NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Kenna, Kevin P ; SLAGEN Consortium ; van Doormaal, Perry T C ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Genetics Vol. 48, No. 9 ( 2016-9), p. 1037-1042

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 48, No. 9 ( 2016-9), p. 1037-1042

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3626

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 1494946-5

SSG: 12

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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui ; [et al.]

Elsevier BV ; 2021

In: Neuron Vol. 109, No. 3 ( 2021-02), p. 448-460.e4

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In: Neuron, Elsevier BV, Vol. 109, No. 3 ( 2021-02), p. 448-460.e4

Type of Medium: Online Resource

ISSN: 0896-6273

URL: Article

DOI: 10.1016/j.neuron.2020.11.005

Language: English

Publisher: Elsevier BV

Publication Date: 2021

detail.hit.zdb_id: 2001944-0

SSG: 12

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A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

Akimoto, Chizuru ; Volk, Alexander E ; van Blitterswijk, Marka ; [et al.]

BMJ ; 2014

In: Journal of Medical Genetics Vol. 51, No. 6 ( 2014-06), p. 419-424

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In: Journal of Medical Genetics, BMJ, Vol. 51, No. 6 ( 2014-06), p. 419-424

Type of Medium: Online Resource

ISSN: 0022-2593 , 1468-6244

URL: Article

DOI: 10.1136/jmedgenet-2014-102360

RVK:

WA 15000

Language: English

Publisher: BMJ

Publication Date: 2014

detail.hit.zdb_id: 2009590-9

SSG: 12

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Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis

Johnson, Janel O. ; Chia, Ruth ; Miller, Danny E. ; [et al.]

American Medical Association (AMA) ; 2021

In: JAMA Neurology Vol. 78, No. 10 ( 2021-10-01), p. 1236-

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In: JAMA Neurology, American Medical Association (AMA), Vol. 78, No. 10 ( 2021-10-01), p. 1236-

Type of Medium: Online Resource

ISSN: 2168-6149

URL: Article

DOI: 10.1001/jamaneurol.2021.2598

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2021

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Mutations in the TRPV4 Gene Are Not Associated With Sporadic Progressive Muscular Atrophy

Vlam, Lotte ; Schelhaas, Helenius J. ; van Blitterswijk, Marka ; [et al.]

American Medical Association (AMA) ; 2012

In: Archives of Neurology Vol. 69, No. 6 ( 2012-06-01)

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In: Archives of Neurology, American Medical Association (AMA), Vol. 69, No. 6 ( 2012-06-01)

Type of Medium: Online Resource

ISSN: 0003-9942

URL: Article

DOI: 10.1001/archneurol.2012.148

RVK:

XA 10000

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2012

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Genetic Overlap between Apparently Sporadic Motor Neuron Diseases

van Blitterswijk, Marka ; Vlam, Lotte ; van Es, Michael A. ; [et al.]

Public Library of Science (PLoS) ; 2012

In: PLoS ONE Vol. 7, No. 11 ( 2012-11-14), p. e48983-

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In: PLoS ONE, Public Library of Science (PLoS), Vol. 7, No. 11 ( 2012-11-14), p. e48983-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0048983

DOI: 10.1371/journal.pone.0048983.t001

DOI: 10.1371/journal.pone.0048983.t002

DOI: 10.1371/journal.pone.0048983.t003

DOI: 10.1371/journal.pone.0048983.s001

DOI: 10.1371/journal.pone.0048983.s002

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2012

detail.hit.zdb_id: 2267670-3

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Mutational analysis of TARDBP in Parkinson's disease

van Blitterswijk, Marka ; van Es, Michael A. ; Verbaan, Dagmar ; [et al.]

Elsevier BV ; 2013

In: Neurobiology of Aging Vol. 34, No. 5 ( 2013-05), p. 1517.e1-1517.e3

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In: Neurobiology of Aging, Elsevier BV, Vol. 34, No. 5 ( 2013-05), p. 1517.e1-1517.e3

Type of Medium: Online Resource

ISSN: 0197-4580

URL: Article

DOI: 10.1016/j.neurobiolaging.2012.09.013

Language: English

Publisher: Elsevier BV

Publication Date: 2013

detail.hit.zdb_id: 1498414-3

SSG: 12

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