Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families

Kinematic Vibrational Entropy Assessment and Analysis of SARS CoV-2 Main Protease

(2022) Xiyu Chen et al.   Journal of Chemical Information and Modeling

Clinical genetics of Charcot–Marie–Tooth disease

(2022) Yujiro Higuchi et al.   JOURNAL OF HUMAN GENETICS

Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts

(2022) Paola Zanfardino et al.   HUMAN MOLECULAR GENETICS

ProMod3—A versatile homology modelling toolbox

(2021) Gabriel Studer et al.   PLoS Computational Biology

Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model

(2021) Azahara Civera-Tregón et al.   NEUROBIOLOGY OF DISEASE

Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

(2021) Sumaira Kanwal et al.   BMC Medical Genomics

GDAP1 Involvement in Mitochondrial Function and Oxidative Stress, Investigated in a Charcot-Marie-Tooth Model of hiPSCs-Derived Motor Neurons

(2021) Federica Miressi et al.   Biomedicines

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives

(2021) Chiara Pisciotta et al.   Brain Sciences

Phenotype of Patients With Charcot-Marie-Tooth With the p.His123Arg Mutation in GDAP1 in Northern Finland

(2021) Maria Lehtilahti et al.   Neurology-Genetics

Clinical and radiological characterization of novel FIG4 ‐related combined system disease with neuropathy

(2020) G.C. Wright et al.   CLINICAL GENETICS

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics

(2019) Delfina Larrea et al.   HUMAN MOLECULAR GENETICS

Finding the ΔΔG spot: Are predictors of binding affinity changes upon mutations in protein-protein interactions ready for it?

(2019) Cunliang Geng et al.   Wiley Interdisciplinary Reviews-Computational Molecular Science

Effects of Pressure and Temperature on the Atomic Fluctuations of Dihydrofolate Reductase from a Psychropiezophile and a Mesophile

(2019) Qi Huang et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

DynaMut: predicting the impact of mutations on protein conformation, flexibility and stability

(2018) Carlos HM Rodrigues et al.   NUCLEIC ACIDS RESEARCH

Computational analysis of histidine mutations on the structural stability of human tyrosinases leading to albinism insurgence

(2017) Mubashir Hassan et al.   Molecular BioSystems

Vocal cord paralysis in Charcot–Marie–Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature

(2017) Alberto Andrea Zambon et al.   NEUROMUSCULAR DISORDERS

Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2

(2016) Christeen Ramane J. Pedurupillay et al.   NEUROMUSCULAR DISORDERS

ENCoM server: exploring protein conformational space and the effect of mutations on protein function and stability

(2015) Vincent Frappier et al.   NUCLEIC ACIDS RESEARCH

The path of no return-Truncated protein N-termini and current ignorance of their genesis

(2015) Nikolaus Fortelny et al.   PROTEOMICS

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

(2014) V Fridman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2

(2014) Qing Zhou et al.   NEW ENGLAND JOURNAL OF MEDICINE

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

L239F founder mutation in GDAP1 is associated with a mild Charcot–Marie–Tooth type 4C4 (CMT4C4) phenotype

(2010) Dagmara Kabzińska et al.   NEUROGENETICS

Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

(2008) Elizabeth A. Amiott et al.   EXPERIMENTAL NEUROLOGY

Severe early-onset axonal neuropathy with homozygous and compound heterozygousMFN2mutations

(2008) G. A. Nicholson et al.   NEUROLOGY

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

(2008) H. Houlden et al.   NEUROLOGY