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The floppy newborn

Early human development, 2013-10, Vol.89, p.S79-S81

Orcesi, S

2013

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Therapies in Aicardi–Goutières syndrome

Clinical and experimental immunology, 2014-01, Vol.175 (1), p.1-8

2014

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Neurology, 2010-07, Vol.75 (1), p.64

2010

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Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads

Journal of affective disorders, 2019-10, Vol.257, p.470-476

2019

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Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study

The journal of maternal-fetal & neonatal medicine, 2020-01, Vol.33 (1), p.103-112

2020

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Aicardi–Goutières syndrome

British medical bulletin, 2009-03, Vol.89 (1), p.183-201

2009

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Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Neurology, 2007-01, Vol.68 (1), p.51

2007

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Cortical malformations and COL4A1 mutation: Three new cases

European journal of paediatric neurology, 2019-05, Vol.23 (3), p.410-417

2019

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Typing TREX1 gene in patients with systemic lupus erythematosus

Reumatismo, 2015-06, Vol.67 (1), p.1-7

2015

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Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up

American journal of neuroradiology : AJNR, 2009-11, Vol.30 (10), p.1971-1976

2009

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The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads

American journal of perinatology, 2018-05, Vol.35 (6), p.578

2018

Volltextzugriff (PDF)

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient

Lupus, 2013-09, Vol.22 (10), p.1064-1069

2013

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The Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload

Mutation research, 2011-12, Vol.717 (1), p.99-108

2011

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Inhibition of the de-myelinating properties of Aicardi-Goutières Syndrome lymphocytes by cathepsin D silencing

Biochemical and biophysical research communications, 2013-01, Vol.430 (3), p.957-962

2013

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COL4A1 mutations associated with a characteristic pattern of intracranial calcification

Neuropediatrics, 2011-12, Vol.42 (6), p.227

2011

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A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

Muscle & nerve, 2000-09, Vol.23 (9), p.1344-1347

2000

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Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes

Oncology reports, 2012-05, Vol.27 (5), p.1689-1694

2012

Volltextzugriff (PDF)

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

Journal of the neurological sciences, 2011-01, Vol.300 (1), p.107-113

2011

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The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients

Neurology, 2005-05, Vol.64 (9), p.1621

2005

Volltextzugriff (PDF)

OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

European journal of paediatric neurology, 2015-05, Vol.19, p.S16-S16

2015

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Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Neuromuscular disorders : NMD, 2006-02, Vol.16 (2), p.93-98

2006

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Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome

Neurology, 2008-08, Vol.71 (8), p.610

2008

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The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

Neuromuscular disorders : NMD, 2007-05, Vol.17 (5), p.400-403

2007

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Body composition and energy expenditure in Duchenne muscular dystrophy

European Journal of Clinical Nutrition, 2003-02, Vol.57 (2), p.273-278

2003

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Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

European journal of paediatric neurology, 2008-09, Vol.12 (5), p.408-411

2008

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The floppy newborn

Therapies in Aicardi–Goutières syndrome

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Depressive symptoms and maternal psychological distress during early infancy: A pilot study in preterm as compared with term mother–infant dyads

Effect of maternal psychopathology on neurodevelopmental outcome and quality of the dyadic relationship in preterm infants: an explorative study

Aicardi–Goutières syndrome

Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy

Cortical malformations and COL4A1 mutation: Three new cases

Typing TREX1 gene in patients with systemic lupus erythematosus

Aicardi-Goutieres Syndrome: Neuroradiologic Findings and Follow-Up

The Mother-Child Relationship during the First Months of Life: Preliminary Considerations in Preterm as Compared with Term Mother-Infant Dyads

Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient

The Aicardi–Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload

Inhibition of the de-myelinating properties of Aicardi-Goutières Syndrome lymphocytes by cathepsin D silencing

COL4A1 mutations associated with a characteristic pattern of intracranial calcification

A multicenter, double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy

Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes

New molecular findings in congenital myopathies due to selenoprotein N gene mutations

The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients

OP49 – 2560: PLP1 mutations affecting PLP1/DM20 alternative splicing causes hypomyelination of early myelinating structures

Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study

Brain damage as detected by cDNA-microarray in the spinal fluid of patients with Aicardi-Goutieres syndrome

The Hammersmith functional score correlates with the SMN2 copy number: A multicentric study

Body composition and energy expenditure in Duchenne muscular dystrophy

Aicardi–Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy

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