Rare Angiogenin and Ribonuclease 4 variants associated with amyotrophic lateral sclerosis exhibit loss-of-function: a comprehensive in silico study

Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses

(2019) Kornélia Tripolszki et al.   Brain and Behavior

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

(2018)   EUROPEAN JOURNAL OF HUMAN GENETICS

Insights into the role of ribonuclease 4 polymorphisms in amyotrophic lateral sclerosis

(2018) Aditya K. Padhi et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Targeted next-generation sequencing reveals novel and rare variants in Indian patients with amyotrophic lateral sclerosis

(2018) Priyam Narain et al.   NEUROBIOLOGY OF AGING

Insights into the role of d -amino acid oxidase mutations in amyotrophic lateral sclerosis

(2018) Aditya K. Padhi et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

A molecular dynamics based investigation reveals the role of rare Ribonuclease 4 variants in amyotrophic lateral sclerosis susceptibility

(2018) Aditya K. Padhi et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Burden of rare variants in ALS genes influences survival in familial and sporadic ALS

(2017) Shirley Yin-Yu Pang et al.   NEUROBIOLOGY OF AGING

C9orf72 hexanucleotide repeat expansions and Ataxin 2 intermediate length repeat expansions in Indian patients with amyotrophic lateral sclerosis

(2017) Priyam Narain et al.   NEUROBIOLOGY OF AGING

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort

(2016) Stefanie Krüger et al.   Frontiers in Molecular Neuroscience

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Genetic causes of amyotrophic lateral sclerosis: New genetic analysis methodologies entailing new opportunities and challenges

(2015) Giuseppe Marangi et al.   BRAIN RESEARCH

Pathogenicity prediction of non-synonymous single nucleotide variants in dilated cardiomyopathy

(2015) Sabine C. Mueller et al.   BRIEFINGS IN BIOINFORMATICS

ff14SB: Improving the Accuracy of Protein Side Chain and Backbone Parameters from ff99SB

(2015) James A. Maier et al.   Journal of Chemical Theory and Computation

Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes

(2014) Janet Cady et al.   ANNALS OF NEUROLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Computational and Functional Characterization of Angiogenin Mutations, and Correlation with Amyotrophic Lateral Sclerosis

(2014) Aditya K. Padhi et al.   PLoS One

NeuroDNet - an open source platform for constructing and analyzing neurodegenerative disease networks

(2013) Suhas V Vasaikar et al.   BMC NEUROSCIENCE

Volarea - A Bioinformatics Tool to Calculate the Surface Area and the Volume of Molecular Systems

(2013) João V. Ribeiro et al.   Chemical Biology & Drug Design

Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis

(2013) Aditya K. Padhi et al.   FEBS LETTERS

PTRAJ and CPPTRAJ: Software for Processing and Analysis of Molecular Dynamics Trajectory Data

(2013) Daniel R. Roe et al.   Journal of Chemical Theory and Computation

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

Prediction of Functional Loss of Human Angiogenin Mutants Associated with ALS by Molecular Dynamics Simulations

(2013) Aditya K. Padhi et al.   Scientific Reports

Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress

(2012) Shuping Li et al.   ANGIOGENESIS

ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics

(2012) Olubunmi Abel et al.   HUMAN MUTATION

Mechanisms of Loss of Functions of Human Angiogenin Variants Implicated in Amyotrophic Lateral Sclerosis

(2012) Aditya K. Padhi et al.   PLoS One

Structural and molecular insights into the mechanism of action of human angiogenin-ALS variants in neurons

(2012) Nethaji Thiyagarajan et al.   Nature Communications

Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel

(2011) Abel González-Pérez et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

(2011) Peter M. Andersen et al.   Nature Reviews Neurology

Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis

(2011) Laura Ferraiuolo et al.   Nature Reviews Neurology

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

Predicting the functional impact of protein mutations: application to cancer genomics

(2011) Boris Reva et al.   NUCLEIC ACIDS RESEARCH

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

RNA processing pathways in amyotrophic lateral sclerosis

(2010) Marka van Blitterswijk et al.   NEUROGENETICS

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE