A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease

Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot–Marie-tooth disease: A computational study

(2018) Ashish Kumar Agrahari et al.   JOURNAL OF THEORETICAL BIOLOGY

Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2

(2018) D. Thirumal Kumar et al.   METABOLIC BRAIN DISEASE

Impact of missense mutations in survival motor neuron protein (SMN1) leading to Spinal Muscular Atrophy (SMA): A computational approach

(2018) P. Sneha et al.   METABOLIC BRAIN DISEASE

Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson’s and Gaucher diseases

(2018) D. Thirumal Kumar et al.   METABOLIC BRAIN DISEASE

Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach

(2017) Sneha P et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I

(2017) Ahmed Mosaeilhy et al.   METABOLIC BRAIN DISEASE

Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme

(2017) C. George Priya Doss et al.   METABOLIC BRAIN DISEASE

A profound computational study to prioritize the disease-causing mutations in PRPS1 gene

(2017) Ashish Kumar Agrahari et al.   METABOLIC BRAIN DISEASE

Structural Determination of the Broadly Reactive Anti- IGHV1-69 Anti-idiotypic Antibody G6 and Its Idiotope

(2017) Yuval Avnir et al.   Cell Reports

Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation

(2016) Shabana Kouser Ali et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Two patients with Canavan disease and structural modeling of a novel mutation

(2016) Osama K Zaki et al.   METABOLIC BRAIN DISEASE

Structural modeling of p.V31F variant in the aspartoacylase gene

(2016) Navaneethakrishnan Krishnamoorthy et al.   METABOLIC BRAIN DISEASE

Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene

(2016) Ahmed Moseilhy et al.   METABOLIC BRAIN DISEASE

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World

(2016) C. George Priya Doss et al.   Scientific Reports

Deciphering the impact of somatic mutations in exon 20 and exon 9 ofPIK3CAgene in breast tumors among Indian women through molecular dynamics approach

(2015) N. Sudhakar et al.   JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS

Novel mutation in an Egyptian patient with infantile Canavan disease

(2015) Osama K. Zaki et al.   METABOLIC BRAIN DISEASE

Pompe Disease

(2014) Majed Dasouki et al.   NEUROLOGIC CLINICS

Genotype-phenotype correlation in Pompe disease, a step forward

(2014) Paola De Filippi et al.   Orphanet Journal of Rare Diseases

Contribution of hydrogen bonds to protein stability

(2014) C. Nick Pace et al.   PROTEIN SCIENCE

PredictSNP: Robust and Accurate Consensus Classifier for Prediction of Disease-Related Mutations

(2014) Jaroslav Bendl et al.   PLoS Computational Biology

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

Bioinformatics analysis of the epitope regions for norovirus capsid protein

(2013) Liping Chen et al.   BMC BIOINFORMATICS

Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

(2013) Yin-Hsiu Chien et al.   Pediatrics and Neonatology

The genotype-phenotype correlation in Pompe disease

(2012) Marian Kroos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

(2012) Marian Kroos et al.   HUMAN MUTATION

Definition and testing of the GROMOS force-field versions 54A7 and 54B7

(2011) Nathan Schmid et al.   EUROPEAN BIOPHYSICS JOURNAL WITH BIOPHYSICS LETTERS

Experimental Evidence for a Reduced Metal-saturated Upper Mantle

(2011) Arno Rohrbach et al.   JOURNAL OF PETROLOGY

SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants

(2011) G. De Baets et al.   NUCLEIC ACIDS RESEARCH

Active site prediction using evolutionary and structural information

(2010) Sriram Sankararaman et al.   BIOINFORMATICS

Stability tests on known and misfolded structures with discrete and all atom molecular dynamics simulations

(2010) Sijung Yun et al.   JOURNAL OF MOLECULAR GRAPHICS & MODELLING

MetaPocket: A Meta Approach to Improve Protein Ligand Binding Site Prediction

(2009) Bingding Huang   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Radius of gyration as an indicator of protein structure compactness

(2008) M. Yu. Lobanov et al.   MOLECULAR BIOLOGY

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS