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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture

Lea K. Davis Dongomei Yu; Clare L Keenan; Eric R Gamazon; Anuar I Konkashbaev; Eske M Derks; Benjamin M Neale; Jian Yang; S. Hong Lee; Patrick Evans; Cathy L Barr; Laura Bellodi; Fortu Benarroch; Gabriel Bedova Berrio; Oscar J Bienvenu; Michael H Bloch; Rianne M Blom; Ruth D Bruun; Cathy L Budman; Beatriz Camarena; Desmond Campbell; Carolina Cappi; Julio C. Cardona Salgado; Danielle C Cath; Maria C Cavallini; Denise A Chavira; Sylvain Chouinard; David V Conti; Edwin H Cook; Vladimir Coric; Bernadette A Cullen; Dieter Deforce; Richard Delorne; Yves Dion; Christopher K Edlund; Karin Egberts; Peter Falkai; Thomas V Fernandez; Patience J Gallagher; Helena Garrido; Daniel Geller; Simon L Girard; Hans J Grabe; Marco A Grados; Benjamin D Greenberg; Varda Gross Tsur; Stephen Haddad; Gary A Heiman; Sian M. J Hemmings; Ana G Hounie; Cornelia Illmann; Joseph Jankovic; Michael A Jenike; Robert A King; Barbara Kremeyer; Roger Kurlan; Nuria Lanzagorta; Marion Leboyer; James F Leckman; Leonhard Lennerts; Chunyu Liu; Christine Lochner; Thomas L Lowe; Fabio Macciardi; James T McCracken; Lauren MacGrant; Sandra C. Mesa Restrepo; Rainald Moessner; Jubel Morgan; Heike Muller; Dennis L Murphy; Allan L Naarden; William Cornejo Ochoa; Roel A Ophoff; Lisa Osieck; Andrew J Pakstis; Michele T Pato; Carlos N Pato; John Piacentini; Christopher Pittenger; Yehuda Pollak; Scott L Rauch; Tobias J Renner; Victor I Reus; Mark A Riddle; Mary M Robertson; Roxana Romero; Maria C Rosàrio; David Rosenberg; Guy A Rouleau; Stephan Ruhrmann; Andres Ruiz Linares; Aline S Sampaio; Jack Samuels; Paul Sandor; Brooke Sheppard; Harvey S Singer; Jan H Smit; Dan J Stein; E Strengman; Jay A Tischfield; Ana V. Valencia Duarte; Homero Pinto Vallada Filho; Filip Van Nieuwerburgh; Jeremy Veenstra VanderWeele; Susanne Walitza; Ying Wang; Jens R Wendland; Herman G. M Westenberg; Yin Yao Shugart; Eurípedes Constantino Miguel; William McMahon; Michael Wagner; Humberto Nicolini; Danielle Posthuma; Gregory L Hanna; Peter Heutink; Damiaan Denys; Paul D Arnold; Ben A Oostra; Gerald Nestadt; Nelson B Freimer; David L Pauls; Naomi R Wray; S. Evelyn Stewart; Carol A Mathews; James A Knowles; Nancy J Cox; Jeremiah M Scharf

Plos genetics San Francisco v. 9, n. 10, p. e1003864, 2013

San Francisco 2013

Available at FM - Fac. Medicina    (BCSEP 483 2013 )(GetIt)

2
Mutations in progranulin ( GRN ) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
Mutations in progranulin ( GRN ) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia
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Mutations in progranulin ( GRN ) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

van Swieten, John C, MD ; Heutink, Peter, PhD

Lancet neurology, 2008-10, Vol.7 (10), p.965-974 [Peer Reviewed Journal]

England: Elsevier Ltd

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3
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia
Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia
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Gene-based association studies report genetic links for clinical subtypes of frontotemporal dementia

Mishra, Aniket ; Ferrari, Raffaele ; Heutink, Peter ; Hardy, John ; Pijnenburg, Yolande ; Posthuma, Danielle

Brain (London, England : 1878), 2017-05, Vol.140 (5), p.1437-1446 [Peer Reviewed Journal]

England

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4
Deep learning-based cell composition analysis from tissue expression profiles
Deep learning-based cell composition analysis from tissue expression profiles
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Deep learning-based cell composition analysis from tissue expression profiles

Menden, Kevin ; Marouf, Mohamed ; Oller, Sergio ; Dalmia, Anupriya ; Magruder, Daniel Sumner ; Kloiber, Karin ; Heutink, Peter ; Bonn, Stefan

Science advances, 2020-07, Vol.6 (30), p.eaba2619-eaba2619 [Peer Reviewed Journal]

United States: American Association for the Advancement of Science

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5
Transcription start site signal profiling improves transposable element RNA expression analysis at locus-level
Transcription start site signal profiling improves transposable element RNA expression analysis at locus-level
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Transcription start site signal profiling improves transposable element RNA expression analysis at locus-level

Savytska, Natalia ; Heutink, Peter ; Bansal, Vikas

Frontiers in genetics, 2022-10, Vol.13, p.1026847-1026847 [Peer Reviewed Journal]

Frontiers Media S.A

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6
Somatic retrotransposition alters the genetic landscape of the human brain
Somatic retrotransposition alters the genetic landscape of the human brain
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Somatic retrotransposition alters the genetic landscape of the human brain

KENNETH BAILLIE, J ; BARNETT, Mark W ; TALBOT, Richard T ; GUSTINCICH, Stefano ; FREEMAN, Thomas C ; MATTICK, John S ; HUME, David A ; HEUTINK, Peter ; CARNINCI, Piero ; JEDDELOH, Jeffrey A ; FAULKNER, Geoffrey J ; UPTON, Kyle R ; GERHARDT, Daniel J ; RICHMOND, Todd A ; DE SAPIO, Fioravante ; BRENNAN, Paul ; RIZZU, Patrizia ; SMITH, Sarah ; FELL, Mark

Nature (London), 2011-10, Vol.479 (7374), p.534-537 [Peer Reviewed Journal]

London: Nature Publishing Group

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7
A genomic background based method for association analysis in related individuals
A genomic background based method for association analysis in related individuals
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A genomic background based method for association analysis in related individuals

Amin, Najaf ; van Duijn, Cornelia M ; Aulchenko, Yurii S Heutink, Peter

PloS one, 2007-12, Vol.2 (12), p.e1274-e1274 [Peer Reviewed Journal]

United States: Public Library of Science

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8
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease
Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease
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Evidence for Immune Response, Axonal Dysfunction and Reduced Endocytosis in the Substantia Nigra in Early Stage Parkinson's Disease

Dijkstra, Anke A ; Ingrassia, Angela ; de Menezes, Renee X ; van Kesteren, Ronald E ; Rozemuller, Annemieke J M ; Heutink, Peter ; van de Berg, Wilma D J Lewis, Patrick

PloS one, 2015-06, Vol.10 (6), p.e0128651-e0128651 [Peer Reviewed Journal]

United States: Public Library of Science

Full text available

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9
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains
Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains
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Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains

Haenig, Christian ; Atias, Nir ; Taylor, Alexander K. ; Mazza, Arnon ; Schaefer, Martin H. ; Russ, Jenny ; Riechers, Sean-Patrick ; Jain, Shushant ; Coughlin, Maura ; Fontaine, Jean-Fred ; Freibaum, Brian D. ; Brusendorf, Lydia ; Zenkner, Martina ; Porras, Pablo ; Stroedicke, Martin ; Schnoegl, Sigrid ; Arnsburg, Kristin ; Boeddrich, Annett ; Pigazzini, Lucia ; Heutink, Peter ; Taylor, J. Paul ; Kirstein, Janine ; Andrade-Navarro, Miguel A. ; Sharan, Roded ; Wanker, Erich E.

Cell reports (Cambridge), 2020-08, Vol.32 (7), p.108050-108050, Article 108050 [Peer Reviewed Journal]

United States: Elsevier Inc

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10
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
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The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

SIMON-SANCHEZ, Javier ; DOPPER, Elise G. P ; SMITS, Marion ; RAAPHORST, Joost ; DEN BERG, Leonard H. Van ; SCHELHAAS, Helenius J ; DE DIE-SMULDERS, Christine E. M ; MAJOOR-KRAKAUER, Danielle ; ROZEMULLER, Annemieke J. M ; WILLEMSEN, Rob ; PIJNENBURG, Yolande A. L ; HEUTINK, Peter ; COHN-HOKKE, Petra E ; SWIETEN, John C. Van ; HUKEMA, Renate K ; NICOLAOU, Nayia ; SEELAAR, Harro ; DE GRAAF, J. Roos A ; DE KONING, Inge ; SCHOOR, Natasja M. Van ; DEEG, Dorly J. H

Brain (London, England : 1878), 2012-03, Vol.135 (Pt 3), p.723-735 [Peer Reviewed Journal]

Oxford: Oxford University Press

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