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Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

European journal of human genetics : EJHG, 2016-06, Vol.24 (6), p.871-880

2016

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Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (4), p.E514-E523

2017

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AAV-mediated FOXG1 gene editing in human Rett primary cells

European journal of human genetics : EJHG, 2020-10, Vol.28 (10), p.1446-1458

2020

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High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

European journal of human genetics : EJHG, 2020-09, Vol.28 (9), p.1231-1242

2020

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JNK signaling provides a novel therapeutic target for Rett syndrome

BMC biology, 2021-12, Vol.19 (1), p.256-256, Article 256

2021

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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.195-201

2015

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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

PloS one, 2013-02, Vol.8 (2), p.e56599-e56599

2013

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Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

Children (Basel), 2023-08, Vol.10 (9), p.1442

2023

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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

Journal of human genetics, 2016-02, Vol.61 (2), p.95-101

2016

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An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model

Cells (Basel, Switzerland), 2023-03, Vol.12 (7), p.977

2023

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The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Orphanet journal of rare diseases, 2016-10, Vol.11 (1), p.142-142, Article 142

2016

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Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

Oxidative medicine and cellular longevity, 2014-01, Vol.2014, p.195935-10

2014

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A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

American journal of human genetics, 2000-10, Vol.67 (4), p.982-985

2000

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COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

Kidney international, 2002-06, Vol.61 (6), p.1947-1956

2002

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Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Cancer science, 2009-03, Vol.100 (3), p.465-471

2009

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Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

Human mutation, 2004-08, Vol.24 (2), p.172-177

2004

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A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

American journal of medical genetics. Part A, 2008-08, Vol.146A (15), p.1994-1998

2008

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Rett syndrome: the complex nature of a monogenic disease

Journal of molecular medicine (Berlin, Germany), 2003-06, Vol.81 (6), p.346-354

2003

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Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

Pediatric nephrology (Berlin, West), 2011-05, Vol.26 (5), p.717-724

2011

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FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Nature genetics, 2002-04, Vol.30 (4), p.436-440

2002

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Going “Viral”: Wayang Elektrik, Wayang Climen and Other Forms of Online Javanese Shadow Puppet Theatre in the Time of Pandemic

Journal of world popular music, 2023-01, Vol.10 (1)

2023

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Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Nephrology, dialysis, transplantation, 2006-03, Vol.21 (3), p.665-671

2006

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Study of MECP2 gene in Rett syndrome variants and autistic girls

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2003-05, Vol.119B (1), p.102-107

2003

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Clinical and molecular characterization of Italian patients affected by Cohen syndrome

Journal of human genetics, 2007-12, Vol.52 (12), p.1011-1017

2007

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ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

European journal of human genetics : EJHG, 2020-11, Vol.28 (11), p.1602-1614

2020

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Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice

Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts

AAV-mediated FOXG1 gene editing in human Rett primary cells

High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot

JNK signaling provides a novel therapeutic target for Rett syndrome

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Revealing the complexity of a monogenic disease: rett syndrome exome sequencing

Natural Course of IQSEC2-Related Encephalopathy: An Italian National Structured Survey

MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability

An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model

The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks

Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome

A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in Males

COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

Array comparative genomic hybridization in retinoma and retinoblastoma tissues

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

Rett syndrome: the complex nature of a monogenic disease

Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2

FACL4 , encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

Going “Viral”: Wayang Elektrik, Wayang Climen and Other Forms of Online Javanese Shadow Puppet Theatre in the Time of Pandemic

Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families

Study of MECP2 gene in Rett syndrome variants and autistic girls

Clinical and molecular characterization of Italian patients affected by Cohen syndrome

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

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