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List of works by Enza Maria Valente

"Fork and bracket" syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies

scientific article published on 3 March 2016

"Gluing" phenotypes together: The case of GLUT1

scientific article published on 10 August 2011

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study

scientific article

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome

scientific article

A novel IRF2BPL truncating variant is associated with endolysosomal storage

scientific article published on 03 October 2019

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

scientific article

A novel family with an unusual early-onset generalized dystonia

scientific article published on 01 January 2005

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

scientific article published in October 2005

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.

scientific article published on 21 April 2016

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

scientific article published on 19 February 2014

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study

scientific article published on 2 April 2015

A solid quality-control analysis of AB SOLiD short-read sequencing data

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

scientific journal article

APP-Related Corticobasal Syndrome: Expanding the List of Corticobasal Degeneration Look Alikes

scientific article published on 29 August 2020

Advances in the genetics of primary torsion dystonia

scientific article published on 16 June 2010

Alpha-synuclein gene duplication: marked intrafamilial variability in two novel pedigrees

scientific article published on 6 June 2013

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

An SCN9A channelopathy causes congenital inability to experience pain

scientific article

Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity.

scientific article

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.

scientific article

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm.

scientific article

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study ⬇️

scientific article published on 30 August 2011

Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

scientific article published in February 2014

Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia

scientific article published on October 2006

Author Correction: Dystonia

scientific article published on 19 October 2018

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

scientific article published on July 2004

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

scientific article published on 25 May 2018

Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

scientific article published on 16 January 2017

Brain Connectivity Changes in Autosomal Recessive Parkinson Disease: A Model for the Sporadic Form

scientific article

Brain-derived neurotrophic factor and risk for primary adult-onset cranial-cervical dystonia.

scientific article published on 17 April 2009

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

scientific article

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

scientific article

Candidate genes for Parkinson disease: Lessons from pathogenesis

scientific article published on 03 June 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

article

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

scientific article published on September 2007

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study

scientific article

Clinical utility gene card for: Joubert syndrome

scientific article published on 30 March 2011

Clinical utility gene card for: Joubert syndrome--update 2013.

scientific article published on 13 February 2013

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report

scientific article published on 19 October 2015

Cognitive, adaptive, and behavioral features in Joubert syndrome

scientific article published on 17 August 2016

Cohort study of prevalence and phenomenology of tremor in dementia with Lewy bodies

scientific article published on 12 February 2013

Computerized gait analysis of Botulinum Toxin treatment in children with cerebral palsy

article

Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype

scientific article

DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13-36.32 in an Italian family with cranial-cervical or upper limb onset

article

DYT2 screening in early-onset isolated dystonia.

scientific article published on 13 October 2016

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

scientific article published on 16 May 2013

Deep brain stimulation in myoclonus-dystonia syndrome

scientific article published in June 2004

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

scientific article published on 14 November 2006

Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria

scientific article published on 15 May 2013

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

scientific article

Diffusion tensor imaging in Joubert syndrome.

scientific article published on 26 September 2007

Distinguishing the four genetic causes of Jouberts syndrome-related disorders

scientific article published in April 2005

Dopa-responsive dystonia: A clinical and molecular genetic study

scientific article published on 01 October 1998

Dystonia

scientific article published on 20 September 2018

Early-onset head titubation in a child with Poretti-Boltshauser syndrome

scientific article published on 10 March 2017

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6-associated neurodegeneration.

scientific article published in April 2016

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

scientific article published on 01 August 2015

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

Exposure to low-dose rotenone precipitates synaptic plasticity alterations in PINK1 heterozygous knockout mice

scientific article published on 22 February 2016

Expression profiling in peripheral blood reveals signature for penetrance in DYT1 dystonia

scientific article published on 04 January 2010

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

scientific article published on 12 April 2011

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

scientific article

Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort

scientific article published on 13 July 2020

GIGYF2 variants are not associated with Parkinson's disease in Italy

article

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi002-A from a patient affected by the Jervell and Lange-Nielsen syndrome and carrier of two compound heterozygous mutations on the KCNQ1 gene.

scientific article published on 7 April 2018

Generation of the human induced pluripotent stem cell (hiPSC) line PSMi003-A from a patient affected by an autosomal recessive form of Long QT Syndrome type 1.

scientific article published on 6 April 2018

Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: Evidence for a third EKD gene

article

Genetic issues in the diagnosis of dystonias

scientific article published on 10 April 2013

Genetic testing for paediatric neurological disorders

scientific article published on December 2008

Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

scientific article published on 26 December 2013

Genotypes and phenotypes of Joubert syndrome and related disorders

scientific article

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy

scientific article

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

scientific article

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

scientific article

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

scientific article published on 31 July 2020

Heterozygous mutations in genes causing parkinsonism: monogenic disorders go complex

article

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

scientific article published on 27 September 2017

Identification of a novel primary torsion dystonia locus (DYT13) on chromosome 1p36 in an Italian family with cranial-cervical or upper limb onset

article

Impaired body movement representation in DYT1 mutation carriers.

scientific article published on 19 June 2008

Impulsive-compulsive behaviors in parkin-associated Parkinson disease

scientific article published on 02 September 2016

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

scientific article

Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

scientific article published on 27 August 2014

Intrafamilial variability in a polish family harbouring a frameshift THAP1 mutation

scientific article published on 16 March 2018

Joubert Syndrome and related disorders

scientific article

Joubert syndrome and related disorders

scientific article

Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers.

scientific article published in July 2009

Joubert syndrome: congenital cerebellar ataxia with the molar tooth

scientific article published on 17 July 2013

KMT2B: A new twist in dystonia genetics

scientific article published on 20 February 2017

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel

scientific article published on 7 January 2014

LRP10: A novel disease gene bridging Parkinson's disease and dementia with Lewy body

scientific article published on 30 December 2018

Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients

article

Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study

scientific article

Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

scientific article published in February 2011

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

scientific article

MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

scientific article

Mitochondrial dysfunction in Parkinson disease: evidence in mutant PARK2 fibroblasts

scientific article published on 11 March 2015

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

scientific article

Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies

article

Motile and non-motile cilia in human pathology: from function to phenotypes

scientific article published on 9 November 2016

Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements

article

Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux

scientific article

Mutation of POC1B in a severe syndromic retinal ciliopathy

scientific article

Mutation screening of the DYT6/THAP1 gene in Italy

scientific article

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

scientific article published on 5 May 2014

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

scientific article published on 06 May 2016

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

scientific article

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Mutations in extracellular matrix genes NID1 and LAMC1 cause autosomal dominant Dandy-Walker malformation and occipital cephaloceles

scientific article published on 28 May 2013

Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

scientific article

Normal cognitive functions in joubert syndrome.

scientific article published in December 2009

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia

scientific article published in April 2013

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

article

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

article

Olfactory dysfunction in Parkinsonism caused byPINK1mutations

scholarly article by Alessandro Ferraris et al published 2009 in Movement Disorders

Ophthalmological findings in Joubert syndrome.

scientific article

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

PARK6-linked parkinsonism occurs in several European families

scientific article published in January 2002

PINK1 (PARK6) and Parkinson's Disease

scholarly article published 2010

PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation

scientific article published on 17 February 2017

PINK1 heterozygous mutations induce subtle alterations in dopamine-dependent synaptic plasticity

scientific article published on 25 October 2013

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism

article

PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease

scientific article

PINK1 mutations are associated with sporadic early-onset parkinsonism

scientific article

PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage

scientific article published on 22 March 2013

PINK1: one protein, multiple neuroprotective functions

article by Enza Maria Valente et al published September 2009 in Future Neurology

PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

scientific article

Pallidal stimulation improves pantothenate kinase-associated neurodegeneration

scientific article published in May 2005

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

article

Phenotype variability of dystonia in monozygotic twins

scientific article published on 01 February 2000

Phenotypic characterization of DYT13 primary torsion dystonia

scientific article published in February 2004

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models

scientific article published on 18 August 2015

Phenotypic variability of DYT1-PTD: Does the clinical spectrum include psychogenic dystonia?

Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families

scientific article published on 27 August 2014

Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients

scientific article

Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium

scientific article

Prevalence and Phenotypic Spectrum of PINK1 Mutations in Parkinson’s Disease

scholarly article by Alessandro Ferraris et al published 2009 in European neurological review

Primary cilia in neurodevelopmental disorders

scientific article published on 03 December 2013

Primary focal hyperhidrosis in a new family not linked to known loci

scientific article

Primary torsion dystonia: the search for genes is not over.

scientific article published in September 1999

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).

scientific article published on 9 January 2018

Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants

scientific article published on 17 August 2013

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

scientific article published on 29 May 2015

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.

scientific article published on 28 June 2008

Recurrent and fatal akinetic crisis in genetic-mitochondrial parkinsonisms

scientific article published on 28 January 2014

Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia

scientific article

SERCA1 protein expression in muscle of patients with Brody disease and Brody syndrome and in cultured human muscle fibers

scientific article published on 20 July 2013

Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A

scientific article

Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual reality

scientific article published in 2021

Solving Mendelian Mysteries: The Non-coding Genome May Hold the Key

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Subclinical sensory abnormalities in unaffected PINK1 heterozygotes

scientific article published on 03 July 2008

Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease

scientific article published on 22 March 2012

Suprascapular nerve entrapment: Neurophysiological localization in 6 cases

scientific article published on 01 October 1996

Surgical prognosis in carpal tunnel syndrome: usefulness of a preoperative neurophysiological assessment

scientific article published on 01 November 1996

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

The Contursi Family 20 Years Later: Intrafamilial Phenotypic Variability of the SNCA p.A53T Mutation

scientific article published on 22 January 2016

The Expanding Joubert Spectrum

scientific article published on 31 August 2007

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm

scientific article

The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells

scientific article

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration

scientific article

The epsilon-sarcoglycan gene in myoclonic syndromes

scientific article (publication date: 22 February 2005)

The molar tooth sign is pathognomonic for Joubert syndrome!

scientific article published on 14 November 2013

The multiple faces of TOR1A: different inheritance, different phenotype

scientific article published in November 2017

The syndrome of deafness-dystonia: clinical and genetic heterogeneity

scientific article published on 15 February 2013

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

scientific article published on 27 August 2011

Transcriptional regulator PRDM12 is essential for human pain perception

scientific article

Translation initiator EIF4G1 mutations in familial Parkinson disease

scientific article (publication date: 9 September 2011)

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

Unusual familial presentation of epsilon-sarcoglycan gene mutation with falls and writer's cramp

scientific article published in October 2008

Very mild features of dysequilibrium syndrome associated with a novel VLDLR missense mutation

scientific article published on 2 June 2016

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