Condition: Hereditary Motor and Sensory-Neuropathy Type II


rs267606621 in AARS1 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 20045102 2010 A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.

PMID 22009580 2012 A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).

PMID 30124830 2018 Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

rs137852972 in BSCL2;HNRNPUL2-BSCL2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16427281 2006 BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

PMID 25454168 2015 Clinical and electrophysiological features in a French family presenting with seipinopathy.

PMID 15732094 2005 Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

PMID 17387721 2007 Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

PMID 18585921 2008 Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17.

PMID 14981520 2004 Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

PMID 25219579 2015 BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome.

PMID 20598714 2010 N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome.

PMID 22045697 2012 Characterization of inclusion bodies with cytoprotective properties formed by seipinopathy-linked mutant seipin.

PMID 24345054 2014 Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission.

PMID 23553728 2013 Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

PMID 21957196 2011 Molecular characterization of seipin and its mutants: implications for seipin in triacylglycerol synthesis.

PMID 25487175 2015 BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature.

PMID 26815532 2016 The p.S90L was identified in a pedigree with CMT2 while the p.R96H was identified in a patient with apparently sporadic dHMN.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 17486577 2007 Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy.

rs1060502838 in GARS1 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 16014653 2005 Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

PMID 25168514 2014 Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.

PMID 26244500 2015 Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.

PMID 26503042 2015 CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.

PMID 17595294 2007 Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect.

PMID 27008886 2016 Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease.

PMID 26138142 2015 Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.

PMID 21737751 2011 Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.

PMID 17035524 2006 Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 17101916 2006 Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene.

rs587777606 in HNRNPUL2-BSCL2;BSCL2;LRRN4CL gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 26282322 2015 Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.

PMID 23564749 2013 A new seipin-associated neurodegenerative syndrome.

rs1060502211 in LMNA gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 23183350 2013 Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers.

PMID 20980393 2010 Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.

PMID 19201734 2009 The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

PMID 10587585 2000 Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

PMID 23313286 2013 Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy.

PMID 20130076 2010 LMNA mutations, skeletal muscle lipid metabolism, and insulin resistance.

PMID 24508248 2014 Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.

PMID 18551513 2008 De novo LMNA mutations cause a new form of congenital muscular dystrophy.

PMID 20848652 2011 Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.

PMID 24806962 2014 Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.

PMID 26098624 2015 Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.

PMID 21632249 2011 Inflammatory changes in infantile-onset LMNA-associated myopathy.

PMID 24656463 2014 Phenotypic intermediate forms overlapping to Emery-Dreifuss and limb girdle muscular dystrophies caused by lamin A/C gene mutations.

PMID 20886652 2010 "Two children with ""dropped head"" syndrome due to lamin A/C mutations."

PMID 22491857 2012 Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy.

PMID 26034236 2015 Infantile-onset LMNA-associated Muscular Dystrophy Mimicking Juvenile Idiopathic Inflammatory Myopathy.

PMID 27876398 2017 Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA.

PMID 23804595 2013 Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.

PMID 20662858 2010 Autosomal recessive LMNA mutation causing restrictive dermopathy.

PMID 14684700 2003 Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.

PMID 19842191 2009 Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

PMID 24623722 2014 Systematic identification of pathological lamin A interactors.

PMID 25163546 2015 Atlas of the clinical genetics of human dilated cardiomyopathy.

PMID 22883396 2014 Hypoplasia of the aorta in a patient diagnosed with LMNA gene mutation.

PMID 19524666 2009 Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

PMID 10739764 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

PMID 18585512 2008 Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 18926329 2008 Long-term outcome and risk stratification in dilated cardiolaminopathies.

PMID 20627339 2011 N-terminal Pro brain natriuretic peptide is a reliable biomarker of reduced myocardial contractility in patients with lamin A/C gene mutations.

PMID 22071332 2012 Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.

PMID 27421120 2016 The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling.

PMID 17987279 2008 Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia.

PMID 28620495 2017 Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T LMNA mutation.

PMID 24080738 2013 Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 18035086 2007 High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

PMID 22700598 2012 Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

PMID 15219508 2004 Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.

PMID 28641778 2017 Clinical presentations, metabolic abnormalities and end-organ complications in patients with familial partial lipodystrophy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 29770364 2017 Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

PMID 29211919 2018 Myofibrillar myopathy due to dominant LMNA mutations: A report of 2 cases.

PMID 19638735 2009 Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia.

PMID 26084686 2015 Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy.

PMID 20160190 2010 Morphological analysis of 13 LMNA variants identified in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

PMID 23701190 2013 Structural alterations of Lamin A protein in dilated cardiomyopathy.

PMID 24386194 2013 Viscoelastic behavior of human lamin A proteins in the context of dilated cardiomyopathy.

PMID 26899768 2016 Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation.

PMID 18795223 2009 Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

PMID 28416588 2017 Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

PMID 11897440 2002 Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

PMID 18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

PMID 23582089 2013 Temporal relationship of conduction system disease and ventricular dysfunction in LMNA cardiomyopathy.

PMID 22177269 2012 Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

PMID 15678000 2005 [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].

PMID 19446900 2009 Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation.

PMID 24915601 2014 Evaluation of damaging effects of splicing mutations: validation of an in vitro method for diagnostic laboratories.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 10939567 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

PMID 11973618 2002 Emery-Dreifuss muscular dystrophy.

PMID 22186027 2012 LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.

PMID 25996830 2015 Myopathic lamin mutations cause reductive stress and activate the nrf2/keap-1 pathway.

PMID 19875404 2009 The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.

PMID 24861648 2014 p.Pro4Arg mutation in LMNA gene: a new atypical progeria phenotype without metabolism abnormalities.

PMID 19875478 2009 Atypical progeroid syndrome due to heterozygous missense LMNA mutations.

PMID 25886484 2015 A novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one case.

PMID 24375749 2014 Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 19328042 2009 A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death.

PMID 11792809 2001 Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

PMID 21173262 2011 Lamin A variants that cause striated muscle disease are defective in anchoring transmembrane actin-associated nuclear lines for nuclear movement.

PMID 11792810 2001 Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy.

PMID 23427149 2013 Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

PMID 12783988 2003 Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.

PMID 29432544 2018 Biomechanical defects and rescue of cardiomyocytes expressing pathologic nuclear lamins.

PMID 22224630 2012 Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

PMID 27723096 2017 Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

PMID 12673789 2003 Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

PMID 16386954 2006 Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers.

PMID 21840938 2011 MicroRNA expression profiling in patients with lamin A/C-associated muscular dystrophy.

PMID 15053843 2004 Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.

PMID 12628721 2003 Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

PMID 29095976 2018 Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

PMID 29367541 2017 Diagnostic Yield of Whole Exome Sequencing in Pediatric Dilated Cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 25469153 2014 A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

PMID 15724423 2005 [Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation].

PMID 14675861 2003 Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation.

PMID 16218190 2005 Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 18031519 2008 Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation.

PMID 18564364 2008 Laminopathies in Russian families.

PMID 16061563 2005 In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients.

PMID 27506821 2016 Multicenter Experience With Catheter Ablation for Ventricular Tachycardia in Lamin A/C Cardiomyopathy.

PMID 17377071 2007 Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

PMID 10080180 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

PMID 19084400 2009 Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.

PMID 18604166 2008 The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation.

PMID 19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

PMID 25324471 2014 Rapamycin treatment of Mandibuloacral dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics.

PMID 25823658 2015 Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins.

PMID 12075506 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

PMID 14627682 2003 Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.

PMID 23702046 2013 LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.

PMID 22893709 2012 Expression of the Hutchinson-Gilford progeria mutation during osteoblast development results in loss of osteocytes, irregular mineralization, and poor biomechanical properties.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 25567453 2014 Progerin expression disrupts critical adult stem cell functions involved in tissue repair.

PMID 24305605 2014 Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development.

PMID 23969228 2013 Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture.

PMID 12714972 2003 Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

PMID 15982412 2005 Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress.

PMID 21875900 2011 A conserved splicing mechanism of the LMNA gene controls premature aging.

PMID 19172989 2009 Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.

PMID 14749366 2004 Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts.

PMID 1839274 1991 Contact sensitivity to phenylbutazone (Butazolidine) cream.

PMID 18551515 2008 Bayesian latent class models with conditionally dependent diagnostic tests: a case study.

PMID 18396274 2008 Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.

PMID 22199124 2012 Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy.

PMID 16537768 2006 Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy.

PMID 26199943 2015 Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.

PMID 16630578 2006 Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect.

PMID 20155465 2010 Identification of a new lamin A/C mutation in a Chinese family affected with atrioventricular block as the prominent phenotype.

PMID 20497714 2010 Connexin 43 remodeling induced by LMNA gene mutation Glu82Lys in familial dilated cardiomyopathy with atrial ventricular block.

PMID 21151901 2010 LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.

PMID 17605093 2007 Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

PMID 17347251 2007 Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.

PMID 18549403 2008 Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

PMID 14607793 2004 Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

PMID 12015247 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

PMID 17711925 2007 New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

PMID 11561226 2001 Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

PMID 23362510 2012 Modeling of lamin A/C mutation premature cardiac aging using patient‐specific induced pluripotent stem cells.

PMID 24237251 2014 Evolution of a genetic diagnosis.

PMID 2280636 1990 [Urinary incontinence in women is treated differently depending on the type].

PMID 16174718 2005 Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.

PMID 11503164 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

PMID 14615128 2003 LMNA mutations in atypical Werner's syndrome.

PMID 12927431 2003 LMNA mutations in atypical Werner's syndrome.

PMID 12629077 2003 A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

PMID 15372542 2004 Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.

PMID 21653823 2011 A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.

PMID 12467752 2002 Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.

PMID 22090424 2012 DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death.

PMID 10580070 1999 Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

PMID 18606848 2008 Sumoylation regulates lamin A function and is lost in lamin A mutants associated with familial cardiomyopathies.

PMID 10612827 2000 UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.

PMID 10814726 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

PMID 24990833 2014 [Case with Emery-Dreifuss muscular dystrophy diagnosed forty-two years after onset and implanted with a cardiac resynchronization therapy defibrillator].

PMID 27220833 2016 An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.

PMID 26443318 2015 Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.

PMID 23062543 2012 Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy.

PMID 29943882 2018 The clinical outcome of LMNA missense mutations can be associated with the amount of mutated protein in the nuclear envelope.

PMID 29237675 2017 Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.

PMID 28878402 2017 Genetic Mechanisms Contribute to the Development of Heart Failure in Patients with Atrioventricular Block and Right Ventricular Apical Pacing.

rs1060501915 in MFN2 gene and Hereditary Motor and Sensory-Neuropathy Type II PMID 21508331 2011 MFN2 mutations cause severe phenotypes in most patients with CMT2A.

PMID 24819634 2014 Mutation analysis of MFN2, GJB1, MPZ and PMP22 in Italian patients with axonal Charcot-Marie-Tooth disease.

PMID 16714318 2006 MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

PMID 24126688 2013 Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.

PMID 17309650 2007 Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

PMID 16835246 2006 Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

PMID 27549087 2016 Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

PMID 21285398 2011 Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.

PMID 15064763 2004 Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

PMID 19889647 2010 Phenotypic spectrum of MFN2 mutations in the Spanish population.

PMID 16437557 2006 Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

PMID 24604904 2014 Application of whole exome sequencing in undiagnosed inherited polyneuropathies.

PMID 24862862 2014 Characterization of the mitofusin 2 R94W mutation in a knock-in mouse model.

PMID 26686600 2016 Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

PMID 22442078 2012 Mitofusin2 mutations disrupt axonal mitochondrial positioning and promote axon degeneration.

PMID 25448007 2015 Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 28063088 2017 Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

PMID 21707411 2011 Structural and functional measures of inner retinal integrity following visual acuity improvement in a patient with hereditary motor and sensory neuropathy type VI.

PMID 25802885 2015 Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

PMID 22492563 2012 MFN2 mutations cause compensatory mitochondrial DNA proliferation.

PMID 28414270 2017 Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression.

PMID 20008656 2009 Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.

PMID 184582 1976 Giant cell tumor of soft parts. An ultrastructural study.

PMID 26085578 2015 Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

PMID 20350294 2010 MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

PMID 26114802 2015 MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

PMID 25025039 2014 Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.

PMID 21531138 2011 Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.

PMID 26307494 2015 Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.

PMID 26382835 2015 A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 18425620 2008 Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

PMID 18946002 2008 Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.

PMID 18957892 2008 Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations.

PMID 21326314 2011 Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

PMID 24957169 2014 Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

PMID 17296794 2007 Complementation between mouse Mfn1 and Mfn2 protects mitochondrial fusion defects caused by CMT2A disease mutations.

PMID 16043786 2005 Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene.

PMID 19812251 2009 A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.

PMID 17959936 2008 Hindlimb gait defects due to motor axon loss and reduced distal muscles in a transgenic mouse model of Charcot-Marie-Tooth type 2A.

PMID 18316077 2008 Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.

PMID 26955893 2016 Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

PMID 21715711 2011 Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

PMID 27862672 2017 Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.

PMID 24078732 2013 Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

PMID 21258814 2011 Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.

PMID 15549395 2005 Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

PMID 18996695 2008 Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings.

PMID 17437620 2007 Mitofusin 2 gene mutation (R94Q) causing severe early-onset axonal polyneuropathy (CMT2A).

PMID 10732809 1997 Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity.

PMID 20335458 2010 Mitofusin 2 is necessary for transport of axonal mitochondria and interacts with the Miro/Milton complex.

PMID 25614874 2014 The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.

PMID 17215403 2007 Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

PMID 24863639 2015 A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.

PMID 19350291 2009 A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.

PMID 24627108 2014 Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.

PMID 25957633 2015 Acute optic neuropathy associated with a novel MFN2 mutation.

PMID 24450158 2013 [MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

PMID 26989944 2016 Charcot-Marie-Tooth type 2 and distal hereditary motor neuropathy: Clinical, neurophysiological and genetic findings from a single-centre experience.

PMID 25403865 2014 Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

PMID 27100445 2016 Rapidly Progressive Polyneuropathy in a Patient With Monoclonal Gammopathy: A Case Report of POEMS Syndrome and Beyond.

PMID 26801520 2016 MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

PMID 24473995 2014 Chronic and slowly progressive weakness of the legs and hands.

PMID 22926664 2013 Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

PMID 22851605 2012 Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

PMID 28251916 2017 Genetic heterogeneity of motor neuropathies.

PMID 16762064 2006 Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

PMID 20951041 2011 Co-occurrence of amyotrophic lateral sclerosis and Charcot-Marie-Tooth disease type 2A in a patient with a novel mutation in the mitofusin-2 gene.

PMID 16087932 2005 Charcot-Marie-Tooth with pyramidal signs is genetically heterogeneous: families with and without MFN2 mutations.

PMID 26378787 2016 The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

PMID 26257172 2015 Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

PMID 17444508 2007 Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease.