List of works - M. Chiara Manzini

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

scientific article

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

scientific article published on 01 December 2007

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish

scientific article

Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior.

scientific article published on 3 November 2017

Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain

scientific article published in February 2017

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

scientific article

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

scientific article published on 29 January 2016

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

scientific article

Developmental and degenerative features in a complicated spastic paraplegia.

scientific article

Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development.

scientific article published on 24 March 2007

Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry

scientific article published on 16 November 2017

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

scientific article

Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety, and hyperactivity

article

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

scientific article published on 27 December 2018

Male-specific CREB signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability

scholarly article published 17 January 2018

Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders

scientific article published on 23 December 2019

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

scientific article

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

scientific article published on 16 September 2020

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

scientific article published on 13 April 2019

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

scientific article

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

scientific article

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

article

Structure of the STRA6 receptor for retinol uptake

scientific article

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis

scientific article

Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.

scientific article published on 16 November 2016

The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth.

scientific article

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

scientific article

What disorders of cortical development tell us about the cortex: one plus one does not always make two

scientific article

List of works by M. Chiara Manzini

A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish

Abrogated Freud-1/Cc2d1a Repression of 5-HT1A Autoreceptors Induces Fluoxetine-Resistant Anxiety/Depression-Like Behavior.

Balancing Act: Maintaining Amino Acid Levels in the Autistic Brain

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.

Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy

Developmental and degenerative features in a complicated spastic paraplegia.

Differential effects of AMPA receptor activation on survival and neurite integrity during neuronal development.

Enhanced Peptide Detection Toward Single-Neuron Proteomics by Reversed-Phase Fractionation Capillary Electrophoresis Mass Spectrometry

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Loss of the intellectual disability and autism gene Cc2d1a and its homolog Cc2d1b differentially affect spatial memory, anxiety, and hyperactivity

Male-Specific cAMP Signaling in the Hippocampus Controls Spatial Memory Deficits in a Mouse Model of Autism and Intellectual Disability

Male-specific CREB signaling in the hippocampus controls spatial memory deficits in a mouse model of autism and intellectual disability

Molecular causes of sex-specific deficits in rodent models of neurodevelopmental disorders

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

Severe muscle–eye–brain disease is associated with a homozygous mutation in the POMGnT1 gene

Structure of the STRA6 receptor for retinol uptake

Structure of the polyisoprenyl-phosphate glycosyltransferase GtrB and insights into the mechanism of catalysis

Tapered-Tip Capillary Electrophoresis Nano-Electrospray Ionization Mass Spectrometry for Ultrasensitive Proteomics: the Mouse Cortex.

The stop signal revised: immature cerebellar granule neurons in the external germinal layer arrest pontine mossy fiber growth.

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

What disorders of cortical development tell us about the cortex: one plus one does not always make two