Gene panels and primers for next generation sequencing studies on neurodegenerative disorders

Characterization of inflammatory biomarkers and candidates for diagnosis of Alzheimer’s disease

(2014) Eva Bagyinszky et al.   BioChip Journal

ATP13A2/PARK9 Regulates Secretion of Exosomes and  -Synuclein

(2014) T. Tsunemi et al.   JOURNAL OF NEUROSCIENCE

ABCA7 in Alzheimer’s Disease

(2014) Qing-Fei Zhao et al.   MOLECULAR NEUROBIOLOGY

Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936

(2014) Donald M. Lyall et al.   NEUROBIOLOGY OF AGING

Deficiency in LRP6-Mediated Wnt Signaling Contributes to Synaptic Abnormalities and Amyloid Pathology in Alzheimer’s Disease

(2014) Chia-Chen Liu et al.   NEURON

Genetics of PICALM Expression and Alzheimer's Disease

(2014) Ishita Parikh et al.   PLoS One

The genetics of Alzheimer's disease

(2014) Eva Bagyinszky et al.   Clinical Interventions in Aging

The role of pro-inflammatory S100A9 in Alzheimer’s disease amyloid-neuroinflammatory cascade

(2013) Chao Wang et al.   ACTA NEUROPATHOLOGICA

Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations

(2013) Ephrem LH Chin et al.   BMC GENETICS

Optineurin suppression causes neuronal cell death via NF-κB pathway

(2013) Mayumi Akizuki et al.   JOURNAL OF NEUROCHEMISTRY

CD33 Alzheimer's disease locus: altered monocyte function and amyloid biology

(2013) Elizabeth M Bradshaw et al.   NATURE NEUROSCIENCE

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

(2013) Daniela Calini et al.   NEUROBIOLOGY OF AGING

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

(2013) John Beck et al.   NEUROBIOLOGY OF AGING

ADAM10 Prodomain Mutations Cause Late-Onset Alzheimer’s Disease: Not Just the Latest FAD

(2013) Robert Vassar   NEURON

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Bridging integrator 1 (BIN1): form, function, and Alzheimer's disease

(2013) Meng-Shan Tan et al.   TRENDS IN MOLECULAR MEDICINE

TDP-43-mediated neurodegeneration: towards a loss-of-function hypothesis?

(2013) Lies Vanden Broeck et al.   TRENDS IN MOLECULAR MEDICINE

The genetics and neuropathology of amyotrophic lateral sclerosis

(2012) Ammar Al-Chalabi et al.   ACTA NEUROPATHOLOGICA

Lysosomal dysfunction in Parkinson disease

(2012) Benjamin Dehay et al.   Autophagy

A tale of three next generation sequencing platforms: comparison of Ion torrent, pacific biosciences and illumina MiSeq sequencers

(2012) Michael Quail et al.   BMC GENOMICS

Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia

(2012) Véronique V Belzil et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Optineurin and amyotrophic lateral sclerosis

(2012) Hirofumi Maruyama et al.   Geriatrics & Gerontology International

The Role of Clusterin in Alzheimer’s Disease: Pathways, Pathogenesis, and Therapy

(2012) Jin-Tai Yu et al.   MOLECULAR NEUROBIOLOGY

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

(2012) Thorlakur Jonsson et al.   NATURE

Genetic association of CR1 with Alzheimer's disease: A tentative disease mechanism

(2012) Lili-Naz Hazrati et al.   NEUROBIOLOGY OF AGING

Variant TREM2 as Risk Factor for Alzheimer's Disease

(2012) Harald Neumann et al.   NEW ENGLAND JOURNAL OF MEDICINE

The PICALM Protein Plays a Key Role in Iron Homeostasis and Cell Proliferation

(2012) Paula B. Scotland et al.   PLoS One

Alzheimer’s Disease: A Clinical Practice-Oriented Review

(2012) Luísa Alves et al.   Frontiers in Neurology

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

ESCRT, autophagy, and frontotemporal dementia

(2011) Jin-A Lee et al.   BMB Reports

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations

(2011) Manuela Neumann et al.   BRAIN

Complement receptor 1 (CR1) and Alzheimer's disease

(2011) Helen Crehan et al.   IMMUNOBIOLOGY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

(2011) Rosa Rademakers et al.   NATURE GENETICS

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

D-Amino acid oxidase controls motoneuron degeneration through D-serine

(2011) J. Sasabe et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Alzheimer's risk variants in the clusterin gene are associated with alternative splicing

(2011) M Szymanski et al.   Translational Psychiatry

A pivotal role for PINK1 and autophagy in mitochondrial quality control: implications for Parkinson disease

(2010) C. T. Chu   HUMAN MOLECULAR GENETICS

Neuropathology of Alzheimer's Disease

(2010) Daniel P. Perl   MOUNT SINAI JOURNAL OF MEDICINE

The role of parkin in familial and sporadic Parkinson's disease

(2010) Ted M. Dawson et al.   MOVEMENT DISORDERS

The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease

(2010) Mark R. Cookson   NATURE REVIEWS NEUROSCIENCE

A comprehensive analysis of deletions, multiplications, and copy number variations in PARK2

(2010) D. M. Kay et al.   NEUROLOGY

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase

(2010) J. Mitchell et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Gab2 in signal transduction and its potential role in the pathogenesis of Alzheimer’s disease

(2010) Xiao-Ling Pan et al.   Neuroscience Bulletin

The GAB2 Gene and the Risk of Alzheimer's Disease: Replication and Meta-Analysis

(2009) M. Arfan Ikram et al.   BIOLOGICAL PSYCHIATRY

DJ-1 and prevention of oxidative stress in Parkinson's disease and other age-related disorders

(2009) Philipp J. Kahle et al.   FREE RADICAL BIOLOGY AND MEDICINE

Parkinson's disease: from monogenic forms to genetic susceptibility factors

(2009) S. Lesage et al.   HUMAN MOLECULAR GENETICS

Sequence Alterations within CYP7B1 Implicate Defective Cholesterol Homeostasis in Motor-Neuron Degeneration

(2008) Maria K. Tsaousidou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample

(2008) A.R. Morgan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

(2008) Xuebao Zhang et al.   BRAIN

Impaired Protein Aggregate Handling and Clearance Underlie the Pathogenesis of p97/VCP-associated Disease

(2008) Jeong-Sun Ju et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

(2008) Antonina Roll-Mecak et al.   NATURE

DNMBP is genetically associated with Alzheimer dementia in the Belgian population

(2008) Karolien Bettens et al.   NEUROBIOLOGY OF AGING

SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

(2008) C. Paisan-Ruiz et al.   NEUROLOGY

Predicting failure rate of PCR in large genomes

(2008) Reidar Andreson et al.   NUCLEIC ACIDS RESEARCH

Linking Notch signaling to ischemic stroke

(2008) J. F. Arboleda-Velasquez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA