Lista de obras - Chiara Aiello - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Cobalamin C defect presenting as severe neonatal hyperammonemia

scientific article published on 10 December 2010

Cobalamin C defect presenting with isolated pulmonary hypertension.

artículo científico publicado en 2013

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

artículo científico publicado en 2009

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

artículo científico publicado en 2016

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

artículo científico publicado en 2013

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

artículo científico publicado en 2013

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

artículo científico publicado en 2011

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

artículo científico publicado en 2013

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

artículo científico publicado en 2012

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

artículo científico publicado en 2012

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

artículo científico publicado en 2013

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2009

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

artículo científico publicado en 2017

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

artículo científico publicado en 2008

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

artículo científico publicado en 2007

Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome

artículo científico publicado en 2009

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

artículo científico publicado en 2007

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

artículo científico publicado en 2007

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

artículo científico publicado en 2009

Lista de obras de Chiara Aiello

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

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

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

Cobalamin C defect presenting as severe neonatal hyperammonemia

Cobalamin C defect presenting with isolated pulmonary hypertension.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

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

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

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

Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations

Glutathione imbalance in patients with X-linked adrenoleukodystrophy

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

Monocytes and macrophages as biomarkers for the diagnosis of megalencephalic leukoencephalopathy with subcortical cysts

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.

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

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6