Lista de obras - Lorena Travaglini - Dominio Público Uruguay

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

scientific article published on 07 December 2018

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

artículo científico publicado en 2018

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

artículo científico publicado en 2015

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 2007

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

artículo científico publicado en 2018

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

artículo científico publicado en 2016

Corrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63]

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

artículo científico publicado en 2019

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

artículo científico publicado en 2019

Epigenetic reprogramming of breast cancer cells by valproic acid occurs regardless of estrogen receptor status.

artículo científico publicado en 2008

Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.

artículo científico publicado en 2007

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

artículo científico publicado en 2013

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

artículo científico publicado en 2014

Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy

artículo científico publicado en 2014

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia

article

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

artículo científico publicado en 2014

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

artículo científico publicado en 2015

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

artículo científico publicado en 2013

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

artículo científico publicado en 2009

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

artículo científico publicado en 2016

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants

artículo científico publicado en 2017

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

artículo científico publicado en 2017

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

artículo científico

PRRT2 is mutated in familial and non-familial benign infantile seizures

artículo científico publicado en 2012

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

scientific article published on 16 November 2018

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

artículo científico publicado en 2013

Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression.

artículo científico publicado en 2012

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

artículo científico publicado en 2008

Retinoic acid targets DNA-methyltransferases and histone deacetylases during APL blast differentiation in vitro and in vivo.

artículo científico publicado en 2005

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia

scientific article published on 18 December 2018

Sequential valproic acid/all-trans retinoic acid treatment reprograms differentiation in refractory and high-risk acute myeloid leukemia

scientific article published on 01 September 2006

Targeting of the N-terminal coiled coil oligomerization interface by a helix-2 peptide inhibits unmutated and imatinib-resistant BCR/ABL.

artículo científico publicado en 2008

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

artículo científico publicado en 2018

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

artículo científico publicado en 2016

Lista de obras de Lorena Travaglini

A novel KCTD17 mutation is associated with childhood early-onset hyperkinetic movement disorder

ATP1A3-related epileptic encephalopathy responding to ketogenic diet.

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

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

Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum

Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination

Corrigendum to “Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia” [Clin. Neurol. Neurosurg. 168 (May) (2018) 60–63]

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

Defining the clinical-genetic and neuroradiological features in SPG54: description of eight additional cases and nine novel DDHD2 variants

Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study

Epigenetic reprogramming of breast cancer cells by valproic acid occurs regardless of estrogen receptor status.

Epigenetic silencing of the myelopoiesis regulator microRNA-223 by the AML1/ETO oncoprotein.

Expanding CEP290 mutational spectrum in ciliopathies

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

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

Frataxin deficiency leads to reduced expression and impaired translocation of NF-E2-related factor (Nrf2) in cultured motor neurons

Frataxin silencing inactivates mitochondrial Complex I in NSC34 motoneuronal cells and alters glutathione homeostasis

Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Heterochromatic gene repression of the retinoic acid pathway in acute myeloid leukemia

LMNA-associated myopathies: the Italian experience in a large cohort of patients.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy

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

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants

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

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

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

Oxidative stress in Duchenne muscular dystrophy: focus on the NRF2 redox pathway.

P016. Congenital ataxia, hemiplegic migraine due to a novel mutation of CACNA1A: a case report

PRRT2 is mutated in familial and non-familial benign infantile seizures

Phenomenology and clinical course of movement disorder in GNAO1 variants: Results from an analytical review

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

Polycombs and microRNA-223 regulate human granulopoiesis by transcriptional control of target gene expression.

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

Retinoic acid targets DNA-methyltransferases and histone deacetylases during APL blast differentiation in vitro and in vivo.

SLC2A1 mutations are a rare cause of pediatric-onset hereditary spastic paraplegia

Sequential valproic acid/all-trans retinoic acid treatment reprograms differentiation in refractory and high-risk acute myeloid leukemia

Targeting of the N-terminal coiled coil oligomerization interface by a helix-2 peptide inhibits unmutated and imatinib-resistant BCR/ABL.

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.