List of works - Chiara Aiello

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

scientific article published in February 2014

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

scientific article

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

scientific article published on 02 March 2016

Cobalamin C defect presenting as severe neonatal hyperammonemia

scientific article published on 10 December 2010

Cobalamin C defect presenting with isolated pulmonary hypertension.

scientific article published on 10 June 2013

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

scientific article (publication date: 26 May 2009)

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

scientific article published on 2 July 2016

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

scientific article published on October 2012

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

scientific article published on 10 May 2017

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

scientific article published on 8 November 2013

Glutathione imbalance in patients with X-linked adrenoleukodystrophy ⬇️

scientific article published on May 22, 2013

Is subclinical adrenal failure in adrenoleukodystrophy/adrenomyeloneuropathy reversible?

scientific article published on 07 March 2011

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

scientific article

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

scientific article

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

scientific article published on 3 May 2012

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

scientific article published on 10 July 2013

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

scientific article

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

scientific article published on 12 May 2017

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

scientific article published on 2 June 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 14 September 2016

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

scientific article published on 07 January 2009

List of works by 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