List of works - Emanuele Bellacchio

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

scientific article published on 19 August 2015

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

scientific article

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

scientific article

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

scientific article published on 10 April 2017

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

scientific article published on 14 March 2018

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

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

scientific article published on 10 May 2017

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

scientific article published on 8 July 2017

In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein ⬇️

scientific article published on November 1, 2012

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

scientific article published on 30 November 2016

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

scientific article

Mutation screening of the DYT6/THAP1 gene in Italy

scientific article

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors

scientific article published on 27 November 2020

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

scientific article (publication date: June 2006)

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

scientific article published on 23 February 2018

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

scientific article published on 24 April 2008

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells

scientific article published on 19 August 2011

List of works by Emanuele Bellacchio

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

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

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

In silico analysis of the two tandem somatomedin B domains of ENPP1 reveals hints on the homodimerization of the protein ⬇️

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

Mutation screening of the DYT6/THAP1 gene in Italy

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells