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1
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
Material Type:
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Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Johnson, Janel O. ; Mandrioli, Jessica ; Benatar, Michael ; Abramzon, Yevgeniya ; Van Deerlin, Vivianna M. ; Trojanowski, John Q. ; Gibbs, J. Raphael ; Brunetti, Maura ; Gronka, Susan ; Wuu, Joanne ; Ding, Jinhui ; McCluskey, Leo ; Martinez-Lage, Maria ; Falcone, Dana ; Hernandez, Dena G. ; Arepalli, Sampath ; Chong, Sean ; Schymick, Jennifer C. ; Rothstein, Jeffrey ; Landi, Francesco ; Wang, Yong-Dong ; Calvo, Andrea ; Mora, Gabriele ; Sabatelli, Mario ; Monsurrò, Maria Rosaria ; Battistini, Stefania ; Salvi, Fabrizio ; Spataro, Rossella ; Sola, Patrizia ; Borghero, Giuseppe ; Galassi, Giuliana ; Scholz, Sonja W. ; Taylor, J. Paul ; Restagno, Gabriella ; Chiò, Adriano ; Traynor, Bryan J.

Neuron (Cambridge, Mass.), 2010-12, Vol.68 (5), p.857-864 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Menopause accelerates biological aging
Menopause accelerates biological aging
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Menopause accelerates biological aging

Levine, Morgan E. ; Lu, Ake T. ; Chen, Brian H. ; Hernandez, Dena G. ; Singleton, Andrew B. ; Ferrucci, Luigi ; Bandinelli, Stefania ; Salfati, Elias ; Manson, JoAnn E. ; Quach, Austin ; Kusters, Cynthia D. J. ; Kuh, Diana ; Wong, Andrew ; Teschendorff, Andrew E. ; Widschwendter, Martin ; Ritz, Beate R. ; Absher, Devin ; Assimes, Themistocles L. ; Horvath, Steve

Proceedings of the National Academy of Sciences - PNAS, 2016-08, Vol.113 (33), p.9327-9332 [Periódico revisado por pares]

United States: National Academy of Sciences

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3
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels
DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels
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DNA Methylation of Lipid-Related Genes Affects Blood Lipid Levels

Pfeiffer, Liliane ; Wahl, Simone ; Pilling, Luke C ; Reischl, Eva ; Sandling, Johanna K ; Kunze, Sonja ; Holdt, Lesca M ; Kretschmer, Anja ; Schramm, Katharina ; Adamski, Jerzy ; Klopp, Norman ; Illig, Thomas ; Hedman, Åsa K ; Roden, Michael ; Hernandez, Dena G ; Singleton, Andrew B ; Thasler, Wolfgang E ; Grallert, Harald ; Gieger, Christian ; Herder, Christian ; Teupser, Daniel ; Meisinger, Christa ; Spector, Timothy D ; Kronenberg, Florian ; Prokisch, Holger ; Melzer, David ; Peters, Annette ; Deloukas, Panos ; Ferrucci, Luigi ; Waldenberger, Melanie

Circulation. Cardiovascular genetics, 2015-04, Vol.8 (2), p.334-342 [Periódico revisado por pares]

United States: American Heart Association, Inc

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4
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
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Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

Hammer, Monia B. ; Eleuch-Fayache, Ghada ; Schottlaender, Lucia V. ; Nehdi, Houda ; Gibbs, J. Raphael ; Arepalli, Sampath K. ; Chong, Sean B. ; Hernandez, Dena G. ; Sailer, Anna ; Liu, Guoxiang ; Mistry, Pramod K. ; Cai, Huaibin ; Shrader, Ginamarie ; Sassi, Celeste ; Bouhlal, Yosr ; Houlden, Henry ; Hentati, Fayçal ; Amouri, Rim ; Singleton, Andrew B.

American journal of human genetics, 2013-02, Vol.92 (2), p.245-251 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies
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Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies

Geiger, Joshua T ; Ding, Jinhui ; Crain, Barbara ; Pletnikova, Olga ; Letson, Christopher ; Dawson, Ted M ; Rosenthal, Liana S ; Pantelyat, Alexander ; Gibbs, J. Raphael ; Albert, Marilyn S ; Hernandez, Dena G ; Hillis, Argye E ; Stone, David J ; Singleton, Andrew B ; Hardy, John A ; Troncoso, Juan C ; Scholz, Sonja W

Neurobiology of disease, 2016-10, Vol.94, p.55-62 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
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Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

JOHNSON, Janel O ; RAPHAEL GIBBS, J ; REILLY, Mary M ; MUNTONI, Francesco ; ABRAMZON, Yevgeniya ; HOULDEN, Henry ; SINGLETON, Andrew B ; MEGARBANE, Andre ; ANDONI URTIZBEREA, J ; HERNANDEZ, Dena G ; REGHAN FOLEY, A ; AREPALLI, Sampath ; PANDRAUD, Amelie ; SIMON-SANCHEZ, Javier ; CLAYTON, Peter

Brain (London, England : 1878), 2012-09, Vol.135 (Pt 9), p.2875-2882 [Periódico revisado por pares]

Oxford: Oxford University Press

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7
Assessment of APOE in atypical parkinsonism syndromes
Assessment of APOE in atypical parkinsonism syndromes
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Assessment of APOE in atypical parkinsonism syndromes

Sabir, Marya S. ; Blauwendraat, Cornelis ; Ahmed, Sarah ; Serrano, Geidy E. ; Beach, Thomas G. ; Perkins, Matthew ; Rice, Ann C. ; Masliah, Eliezer ; Morris, Christopher M. ; Pihlstrom, Lasse ; Pantelyat, Alexander ; Resnick, Susan M. ; Cookson, Mark R. ; Hernandez, Dena G. ; Albert, Marilyn ; Dawson, Ted M. ; Rosenthal, Liana S. ; Houlden, Henry ; Pletnikova, Olga ; Troncoso, Juan ; Scholz, Sonja W.

Neurobiology of disease, 2019-07, Vol.127, p.142-146 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation
Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation
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Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

Wood, Andrew R ; Perry, John R B ; Tanaka, Toshiko ; Hernandez, Dena G ; Zheng, Hou-Feng ; Melzer, David ; Gibbs, J Raphael ; Nalls, Michael A ; Weedon, Michael N ; Spector, Tim D ; Richards, J Brent ; Bandinelli, Stefania ; Ferrucci, Luigi ; Singleton, Andrew B ; Frayling, Timothy M Arking, Dan E.

PloS one, 2013-05, Vol.8 (5), p.e64343-e64343 [Periódico revisado por pares]

United States: Public Library of Science

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9
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms
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Parkinson's disease age at onset genome‐wide association study: Defining heritability, genetic loci, and α‐synuclein mechanisms

Blauwendraat, Cornelis ; Heilbron, Karl ; Vallerga, Costanza L. ; Bandres‐Ciga, Sara ; von Coelln, Rainer ; Pihlstrøm, Lasse ; Simón‐Sánchez, Javier ; Schulte, Claudia ; Sharma, Manu ; Krohn, Lynne ; Siitonen, Ari ; Iwaki, Hirotaka ; Leonard, Hampton ; Noyce, Alastair J. ; Tan, Manuela ; Gibbs, J. Raphael ; Hernandez, Dena G. ; Scholz, Sonja W. ; Jankovic, Joseph ; Shulman, Lisa M. ; Lesage, Suzanne ; Corvol, Jean‐Christophe ; Brice, Alexis ; van Hilten, Jacobus J. ; Marinus, Johan ; Eerola‐Rautio, Johanna ; Tienari, Pentti ; Majamaa, Kari ; Toft, Mathias ; Grosset, Donald G. ; Gasser, Thomas ; Heutink, Peter ; Shulman, Joshua M. ; Wood, Nicolas ; Hardy, John ; Morris, Huw R. ; Hinds, David A. ; Gratten, Jacob ; Visscher, Peter M. ; Gan‐Or, Ziv ; Nalls, Mike A. ; Singleton, Andrew B.

Movement disorders, 2019-06, Vol.34 (6), p.866-875 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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10
An exploratory analysis on gene-environment interactions for Parkinson disease
An exploratory analysis on gene-environment interactions for Parkinson disease
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An exploratory analysis on gene-environment interactions for Parkinson disease

Gao, Jianjun ; Nalls, Michael A ; Shi, Min ; Joubert, Bonnie R ; Hernandez, Dena G ; Huang, Xuemei ; Hollenbeck, Albert ; Singleton, Andrew B ; Chen, Honglei

Neurobiology of aging, 2012-10, Vol.33 (10), p.2528.e1-2528.e6 [Periódico revisado por pares]

United States: Elsevier Inc

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