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List of works by Virginia Kimonis

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands

scientific article published on 30 May 2016

A Case Report of a 44-Year-Old Woman With Camurati-Englemann Disease: A Case Report

scientific article published on 01 July 2020

A Fine Balance of Dietary Lipids Improves Pathology of a Murine Model of VCP-Associated Multisystem Proteinopathy

scientific article

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome

scientific article published on 19 April 2013

A case report comparing clinical, imaging and neuropsychological assessment findings in twins discordant for the VCP p.R155C mutation

scientific article published on 22 October 2014

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene

article

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

scientific journal article

A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome"

scientific article published on 01 February 2005

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome

scientific article published on 22 October 2019

A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse

scientific article published on 21 November 2012

A randomized pilot efficacy and safety trial of diazoxide choline controlled-release in patients with Prader-Willi syndrome

scientific article published on 23 September 2019

A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

scientific article

A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness

scientific article

ALG11-CDG syndrome: Expanding the phenotype

scientific article published on 24 January 2019

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis ⬇️

scientific article published on August 13, 2012

APOE is a potential modifier gene in an autosomal dominant form of frontotemporal dementia (IBMPFD)

scientific article published on 01 January 2007

Activation of the NLRP3 Inflammasome Is Associated with Valosin-Containing Protein Myopathy

scientific article published on 11 October 2016

Administration of CoQ10 analogue ameliorates dysfunction of the mitochondrial respiratory chain in a mouse model of Angelman syndrome

scientific article published on 12 February 2015

Amelioration of the typical cognitive phenotype in a patient with the 5pter deletion associated with Cri-du-chat syndrome in addition to a partial duplication of CTNND2.

scientific article published on 26 March 2014

An additional patient with mycophenolate mofetil embryopathy: Cardiac and facial analyses ⬇️

scientific article published on March 15, 2011

Apert syndrome: what prenatal radiographic findings should prompt its consideration?

scientific article published on October 2006

Atypical cases of Angelman syndrome

scientific article published in November 2006

Autosomal dominant inclusion body myopathy, Paget disease of bone, and frontotemporal dementia

scientific article

Birth seasonality studies in a large Prader-Willi syndrome cohort

scientific article published on 21 June 2019

Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy

scientific article published on 07 January 2021

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion

scientific article

Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia ⬇️

scientific article (publication date: December 2001)

Clinical and genetic heterogeneity in chromosome 9p associated hereditary inclusion body myopathy: exclusion of GNE and three other candidate genes

scientific article published in September 2003

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

scientific article published on 01 July 2000

Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome

scientific article

Clinical heterogeneity in autosomal dominant optic atrophy in two 3q28-qter linked central Illinois families

scientific article published on 01 September 2000

Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature

scientific article published on 01 August 2004

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

scientific article published in March 2008

Cockayne syndrome: the developing phenotype

scientific article published in June 2005

Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.

scientific article published in May 2018

Contributing factors of mortality in Prader-Willi syndrome

scientific article published on 19 December 2018

Cornelia de Lange syndrome in diverse populations

scientific article published on 06 January 2019

Cytokine profiling in patients with VCP-associated disease

scientific article

Description of a case of distal 2p trisomy by array-based comparative genomic hybridization: a high resolution genome-wide investigation for chromosomal aneuploidy in a single assay

scientific article published on 01 October 2004

Diagnostic utility of array-based comparative genomic hybridization in a clinical setting

scientific article published on 01 November 2007

Differential gene expression reveals mitochondrial dysfunction in an imprinting center deletion mouse model of Prader-Willi syndrome

scientific article published on 29 July 2013

Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid.

scientific article published in August 2010

Dysfunctional oleoylethanolamide signaling in a mouse model of Prader-Willi syndrome

scientific article published on 19 December 2016

Early Diagnosis in Prader-Willi Syndrome Reduces Obesity and Associated Co-Morbidities

scientific article published on 06 November 2019

Early-onset Alzheimers and cortical vision impairment in a woman with valosin-containing protein disease associated with 2 APOE ε4/APOE ε4 genotype

scientific article published on January 2015

Effect of genetic subtypes and growth hormone treatment on bone mineral density in Prader-Willi syndrome

scientific article published on 01 May 2014

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

scientific article published on 01 December 2007

Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

scientific article published on 30 September 2005

Exercise training reverses skeletal muscle atrophy in an experimental model of VCP disease

scientific article

Expression level of R155H mRNA in the knock-in mouse model

scientific article published on 20 January 2020

Familial incidence and associated symptoms in a population of individuals with nonsyndromic craniosynostosis

scientific article

Frequency of Prader–Willi syndrome in births conceived via assisted reproductive technology ⬇️

scientific article published on August 8, 2013

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement

scientific article published in January 2005

Genetic Subtype-Phenotype Analysis of Growth Hormone Treatment on Psychiatric Behavior in Prader-Willi Syndrome

scientific article published on 23 October 2020

Genetics of craniosynostosis

scientific article

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia

scientific article published on 4 October 2012

Genotype-phenotype study in patients with VCP valosin-containing protein mutations associated with multisystem proteinopathy.

scientific article published on 10 July 2017

Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

scientific article published in 2022

Global Gene Profiling of VCP‐associated Inclusion Body Myopathy ⬇️

scientific article published on April 4, 2012

Global gene expression profiling in R155H knock-in murine model of VCP disease

scientific article

Growth Charts for Prader-Willi Syndrome During Growth Hormone Treatment.

scientific article published on 3 February 2016

Growth charts for non-growth hormone treated Prader-Willi syndrome

scientific article

Growth standards of infants with Prader-Willi syndrome

scientific article published on 14 March 2011

Homozygosity for the A431E mutation in PSEN1 presenting with a relatively aggressive phenotype

scientific article published on 01 February 2019

Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report

scientific article published on 01 November 2019

Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature

article

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

scientific article

Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) gene.

scientific article published in September 2006

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations

scientific article published on 23 May 2007

Impact of genetic subtypes of Prader-Willi syndrome with growth hormone therapy on intelligence and body mass index

scientific article published on 16 July 2019

In vitro studies in VCP-associated multisystem proteinopathy suggest altered mitochondrial bioenergetics

scientific article published on 25 February 2015

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome

scientific article published in June 2006

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

scientific article published on August 2009

Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease

scientific article published on 24 October 2013

Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy

scientific article

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

scientific article published on 22 October 2005

Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome ⬇️

scientific article published on October 6, 2011

Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome

scientific article

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study

scientific article published on 05 May 2018

Molecular subtype and growth hormone effects on dysmorphology in Prader-Willi syndrome

scientific article published on 29 November 2019

Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature

scientific article published in December 2007

Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome

scientific article published on 18 May 2018

Multisystem proteinopathy: Where myopathy and motor neuron disease converge

scientific article published on 03 November 2020

Mutant valosin-containing protein causes a novel type of frontotemporal dementia

scientific article published in March 2005

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Myogenic differentiation of VCP disease-induced pluripotent stem cells: A novel platform for drug discovery

scientific article

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

scientific article published in May 2009

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

scientific article published on 09 June 2020

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy

scientific article published on 10 July 2019

Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes

scientific article published on 17 December 2018

Novel ubiquitin neuropathology in frontotemporal dementia with valosin-containing protein gene mutations

scientific article published on 01 June 2006

Novel valosin-containing protein mutations associated with multisystem proteinopathy

scientific article published on 17 April 2018

Nuclear localization of valosin-containing protein in normal muscle and muscle affected by inclusion-body myositis

scientific article

Nutritional phases in Prader-Willi syndrome.

scientific article published on 4 April 2011

Oxytocin treatment in children with Prader-Willi syndrome: A double-blind, placebo-controlled, crossover study.

scientific article published on 30 March 2017

Pathological consequences of VCP mutations on human striated muscle

scientific article published on 19 September 2006

Phenotypic diversity of patients diagnosed with VACTERL association

scientific article published on 27 August 2018

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation

scientific article published in November 2006

Prader-Willi Syndrome due to an Unbalanced de novo Translocation t(15;19)(q12;p13.3).

scientific article

Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study

scientific article published on 22 December 2017

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

scientific article published on 7 July 2016

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

scientific article published on 26 February 2015

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

scientific article published on November 2004

Radiological features of Paget disease of bone associated with VCP myopathy ⬇️

scientific article published on June 4, 2011

Rapamycin and chloroquine: the in vitro and in vivo effects of autophagy-modifying drugs show promising results in valosin containing protein multisystem proteinopathy

scientific article

Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

scientific article published in July 2003

Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?

scientific article published on 01 March 2006

SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain

scientific article published on 26 June 2019

Sex-influenced autosomal dominant optic atrophy is caused by mutations of IVS9 +2A>G in the OPA1 gene

scientific article published on 01 January 2006

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

scientific article published in August 2005

Splice-Break: exploiting an RNA-seq splice junction algorithm to discover mitochondrial DNA deletion breakpoints and analyses of psychiatric disorders.

scientific article published in June 2019

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

scientific article published on October 2008

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations

scientific article published in February 2007

Targeted excision of VCP R155H mutation by Cre-LoxP technology as a promising therapeutic strategy for valosin-containing protein disease

scientific article

The Homozygote VCPR155H/R155H Mouse Model Exhibits Accelerated Human VCP-Associated Disease Pathology ⬇️

scientific article published on September 28, 2012

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

scientific article published on 03 September 2011

Two cases of Legg-Perthes and intellectual disability in Tricho-Rhino-Phalangeal syndrome type 1 associated with novel TRPS1 mutations

scientific article published on 03 March 2017

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease ⬇️

scientific article published on October 5, 2010

VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: review of a unique disorder

scientific article

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

scientific journal article

Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts

scientific article published on 13 October 2009

Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia

scientific article published on 19 April 2009

Valosin-containing protein mutation and Parkinson’s disease ⬇️

scientific article published on August 3, 2011

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease

scientific article published on 01 July 2019

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