List of works - Guja Astrea

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

scientific article

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

scientific article

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

scientific article published on 22 April 2015

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

scientific article published on 16 October 2017

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

scientific article published on 6 December 2017

Congenital myopathies: clinical phenotypes and new diagnostic tools

scientific article published on 15 November 2017

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

scientific article published on 13 July 2019

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

scientific article published on 01 May 2006

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

scientific article published on 01 September 2014

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

scientific journal article

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

scientific article published on 16 January 2018

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

scientific article

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

scientific article published on 15 December 2018

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

scientific article published on 25 July 2015

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

scientific article published on 07 July 2016

Muscle MRI in TRPV4-related congenital distal SMA

scientific article published on 01 January 2012

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

scientific article published on 30 April 2017

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

scientific article

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

scientific article

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

scientific article published in October 2013

Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children

scientific article published on 01 September 2007

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

scientific article published on 5 August 2015

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

scientific article published on 23 June 2009

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

scientific article published on 09 November 2012

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

scientific article published on 5 May 2016

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

article

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

scientific article published on 01 January 2019

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients

scientific article published on 08 June 2016

List of works by Guja Astrea

"I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy.

A diagnostic dilemma in a family with cystinuria type B resolved by muscle magnetic resonance

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Burden, professional support, and social network in families of children and young adults with muscular dystrophies.

CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Cognitive profile in Duchenne muscular dystrophy boys without intellectual disability: The role of executive functions.

Congenital myopathies: clinical phenotypes and new diagnostic tools

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

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

Friedreich's Ataxia Presenting as Isolated Spastic Paraparesis

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

Implicit learning deficit in children with Duchenne muscular dystrophy: Evidence for a cerebellar cognitive impairment?

Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Italian recommendations for diagnosis and management of congenital myasthenic syndromes

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

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

Muscle MRI in TRPV4-related congenital distal SMA

Mutations in GMPPB Presenting with Pseudometabolic Myopathy.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia.

Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children

Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexia.

Reliability of the North Star Ambulatory Assessment in a multicentric setting.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement.

Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients