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Sampath Arepalli

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M B Hammer; Faycal Hentati; C Sassi; Rim Amouri; Sampath Arepalli; YOSR BOUHLAL; S B Chong; G Eleuch-Fayache; J Raphael Gibbs; Andrew B Singleton
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
Monia B Hammer; Fayçal Hentati; Dena G Hernandez; Henry Houlden; Guoxiang Liu; Pramod K Mistry; Houda Nehdi; Anna Sailer; Celeste Sassi; Lucia V Schottlaender; Ginamarie Shrader; Rim Amouri; Sampath Arepalli; Yosr Bouhlal; Huaibin Cai; Sean B Chong; Ghada Eleuch-Fayache; J Raphael Gibbs; Andrew B Singleton
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
Daniah Trabzuni; Jana Vandrovcova; Robert Walker; Michael E Weale; Selina Wray; Andrew B Singleton; Colin Smith; Sampath Arepalli; Mark R Cookson; Rohan de Silva; Allissa Dillman; J Raphael Gibbs; John Hardy; Dena G Hernandez; Connie Luk; Alan Pittman; Adaikalavan Ramasamy; Mina Ryten
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.

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2013: M B Hammer; Faycal Hentati; C Sassi; Rim Amouri; Sampath Arepalli; YOSR BOUHLAL; S B Chong; G Eleuch-Fayache; J Raphael Gibbs; Andrew B Singleton
Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders.
European journal of neurology : the official journal of the European Federation of Neurological Societies 2013;20(3):486-92.
2013: Monia B Hammer; Fayçal Hentati; Dena G Hernandez; Henry Houlden; Guoxiang Liu; Pramod K Mistry; Houda Nehdi; Anna Sailer; Celeste Sassi; Lucia V Schottlaender; Ginamarie Shrader; Rim Amouri; Sampath Arepalli; Yosr Bouhlal; Huaibin Cai; Sean B Chong; Ghada Eleuch-Fayache; J Raphael Gibbs; Andrew B Singleton
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
American journal of human genetics 2013;92(2):245-51.
2012: Daniah Trabzuni; Jana Vandrovcova; Robert Walker; Michael E Weale; Selina Wray; Andrew B Singleton; Colin Smith; Sampath Arepalli; Mark R Cookson; Rohan de Silva; Allissa Dillman; J Raphael Gibbs; John Hardy; Dena G Hernandez; Connie Luk; Alan Pittman; Adaikalavan Ramasamy; Mina Ryten
MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.
Human molecular genetics 2012;21(18):4094-103.
2012: Janel Johnson; Andre Megarbane; Francesco Muntoni; Amelie Pandraud; Mary M Reilly; Javier Simón-Sánchez; Yevgeniya Abramzon; Sampath Arepalli; Peter Clayton; A Reghan Foley; J Raphael Gibbs; Dena G Hernandez; Henry Houlden; J Andoni Urtizberea; Andrew B Singleton
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
Brain : a journal of neurology 2012;135(Pt 9):2875-82.
2012: Dena G Hernandez; Matthew Moore; Mike A Nalls; Richard J O'Brien; Mina Ryten; Andrew B Singleton; Colin Smith; Daniah Trabzuni; Bryan Joseph Traynor; Juan C Troncoso; Robert Walker; Michael E Weale; Alan B Zonderman; Sampath Arepalli; Stefania Bandinelli; Sean Chong; Allissa Dillman; J Raphael Gibbs; John Hardy; Mark R Cookson
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiology of disease 2012;47(1):20-8.
2011: Javier Simón-Sánchez; Jacobus J van Hilten; Bart van de Warrenburg; Bart Post; Henk W Berendse; Sampath Arepalli; Dena G Hernandez; Rob M A de Bie; Daan Velseboer; Hans Scheffer; Bas Bloem; Karin D van Dijk; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; Patrizia Rizzu; Zoltán Bochdanovits; Andrew Singleton; Peter Heutink
Genome-wide association study confirms extant PD risk loci among the Dutch.
European journal of human genetics : EJHG 2011;19(6):655-61.
2011: Cecilia Marelli; Joyce van de Leemput; Janel O Johnson; Francois Tison; Christel Thauvin-Robinet; Fabienne Picard; Christine Tranchant; Dena G Hernandez; Bernard Huttin; Jacques Boulliat; Iban Sangla; Christian Marescaux; Serge Brique; Hélène Dollfus; Sampath Arepalli; Isabelle Benatru; Elisabeth Ollagnon; Sylvie Forlani; John Hardy; Giovanni Stevanin; Alexandra Dürr; Andrew Singleton; Alexis Brice
SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.
Archives of neurology 2011;68(5):637-43.
2011: Adriano Chio; Giuseppe Borghero; Maura Pugliatti; Anna Ticca; Andrea Calvo; Cristina Moglia; Roberto Mutani; Maura Brunetti; Irene Ossola; Maria Giovanna Marrosu; Maria Rita Murru; Gianluca Floris; Antonino Cannas; Leslie D Parish; Paola Cossu; Yevgeniya Abramzon; Janel O Johnson; Michael A Nalls; Sampath Arepalli; Sean Chong; Dena G Hernandez; Bryan Joseph Traynor; Gabriella Restagno
Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.
Archives of neurology 2011;68(5):594-8.
2011: Dena G Hernandez; Michael A Nalls; J Raphael Gibbs; Sampath Arepalli; Marcel van der Brug; Sean Chong; Matthew Moore; Dan L Longo; Mark Cookson; Bryan Joseph Traynor; Andrew Singleton
Distinct DNA methylation changes highly correlated with chronological age in the human brain.
Human molecular genetics 2011;20(6):1164-72.
2011: Terhi Peuralinna; Tuomo Polvikoski; Andrew Singleton; Raimo Sulkava; Maarit Tanskanen; Pentti J Tienari; Bryan Joseph Traynor; Sampath Arepalli; John Hardy; Dena Hernandez; Hannu Kalimo; Shiao-Lin Lai; Mira Mäkelä; Anders Paetau; Liisa Myllykangas
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.
Journal of Alzheimer's disease : JAD 2011;26(2):377-85.
2010: Bryan Joseph Traynor; Michael Nalls; Shiao-Lin Lai; Raphael J Gibbs; Jennifer C Schymick; Sampath Arepalli; Dena Hernandez; Marcel P van der Brug; Janel Johnson; Allissa Dillman; Mark Cookson; Cristina Moglia; Andrea Calvo; Gabriella Restagno; Gabriele Mora; Adriano Chio
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(27):12335-8.
2010: J Raphael Gibbs; Marcel P van der Brug; Dena G Hernandez; Bryan Joseph Traynor; Michael A Nalls; Shiao-Lin Lai; Sampath Arepalli; Allissa Dillman; Ian P Rafferty; Juan C Troncoso; Robert Johnson; H Ronald Zielke; Luigi Ferrucci; Dan L Longo; Mark Cookson; Andrew Singleton
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
PLoS genetics 2010;6(5):e1000952.
2009: Elin S Blom; Vilmantas Giedraitis; Sampath Arepalli; Marian L Hamshere; Omanma Adighibe; Alison Goate; Julie Williams; Lars Lannfelt; John Hardy; Fabienne Wavrant-De Vrièze; Anna Glaser
Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs.
BMC medical genetics 2009;10():122.
2008: Elin S Blom; Peter Holmans; Sampath Arepalli; Omanma Adighibe; Marian L Hamshere; Margaret Gatz; Nancy L Pedersen; A L Mina Bergem; Michael J Owen; Paul Hollingworth; Alison Goate; Julie Williams; Lars Lannfelt; John Hardy; Fabienne Wavrant-De Vrièze; Anna Glaser
Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13?
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):778-83.
2007: Fabienne Wavrant-De Vrièze; Danielle Compton; Meridith Womick; Sampath Arepalli; Omanma Adighibe; Ling Li; Jordi Pérez-Tur; John Hardy
ABCA1 polymorphisms and Alzheimer's disease.
Neuroscience letters 2007;416(2):180-3.
2007: Michele C Gornick; Anjene Addington; Philip Shaw; Aaron J Bobb; Wendy S Sharp; Deanna Greenstein; Sampath Arepalli; F Xavier Castellanos; Judy Rapoport
Association of the dopamine receptor D4 (DRD4) gene 7-repeat allele with children with attention-deficit/hyperactivity disorder (ADHD): an update.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(3):379-82.
2007: Jennifer C Schymick; Sonja Scholz; Hon-Chung Fung; Angela Britton; Sampath Arepalli; J Raphael Gibbs; Federica Lombardo; Mar Matarin; Dalia Kasperaviciute; Dena G Hernandez; Cynthia Crews; Lucie Bruijn; Jeffrey rothstein; Gabriele Mora; Gabriella Restagno; Adriano Chio; Andrew Singleton; John Hardy; Bryan Joseph Traynor
Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.
Lancet neurology 2007;6(4):322-8.
2007: Bradford Worrall; Thomas G Brott; Robert D Brown; W Mark Brown; Stephen S Rich; Sampath Arepalli; Fabienne Wavrant-De Vrièze; Jaime Duckworth; Andrew Singleton; John Hardy; James F Meschia
IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations.
Stroke; a journal of cerebral circulation 2007;38(4):1189-96.
2006: Jeffrey Seal; Michele C Gornick; Nitin Gogtay; Philip Shaw; Deanna Greenstein; M Coffey; Peter Gochman; T Stromberg; Z Chen; Barry Merriman; Stanley F Nelson; J Brooks; Sampath Arepalli; Fabienne Wavrant-De Vrièze; John Hardy; Judy Rapoport; Anjene Addington
Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia.
Journal of medical genetics 2006;43(11):887-92.
2006: Omanma Adighibe; Sampath Arepalli; Jaime Duckworth; John Hardy; Fabienne Wavrant-De Vrièze
Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease.
Neurobiology of aging 2006;27(10):1431-4.
2005: Liisa Myllykangas; Fabienne Wavrant-De Vrièze; Tuomo Polvikoski; Irma-Leena Notkola; Raimo Sulkava; Leena Niinistö; Steven D Edland; Sampath Arepalli; Omanma Adighibe; Danielle Compton; John Hardy; Matti Haltia; Pentti J Tienari
Chromosome 21 BACE2 haplotype associates with Alzheimer's disease: a two-stage study.
Journal of the neurological sciences 2005;236(1-2):17-24.