Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Alfredo Brusco

790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism

scientific article published on 6 February 2012

<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus

scientific article published on 10 August 2021

A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease?

scientific article published on 21 February 2020

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

scientific article published on 15 October 2020

A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids

scientific article published in July 2015

A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

scientific journal article

A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q.

scientific article

A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

scientific journal article

A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations

scientific article published on 04 December 2009

A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants

scientific article published on 13 November 2018

A high-content drug screening strategy to identify protein level modulators for genetic diseases: a proof-of-principle in Autosomal Dominant LeukoDystrophy (ADLD)

scientific article published on 30 November 2020

A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease

scientific article published on 01 September 1997

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

scientific article published on 20 February 2015

A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.

scientific article published on 23 November 2014

A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity.

scientific article published in December 2015

A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes

scientific article published on 18 December 2018

A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in <i>SPTBN2</i>

scientific article published on 13 December 2020

A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

scientific article published on February 2009

A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).

scientific article published on 4 May 2017

A novel spinocerebellar ataxia type 15 family with involuntary movements and cognitive decline

scientific article published on 07 March 2011

A previously undiagnosed case of Gerstmann-Sträussler-Scheinker disease revealed by PRNP gene analysis in patients with adult-onset ataxia

scientific article published on 01 July 2008

A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.

scientific article

A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia.

scientific article published in June 2008

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

scientific article published on 17 August 2017

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

scientific article published on 17 July 2020

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

scientific article published on 06 April 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

ATXN-2 CAG repeat expansions are interrupted in ALS patients

scientific article published on 03 May 2011

ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia

scientific article published on 22 September 2018

Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations

scientific article published on 31 October 2014

Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy

scientific article published on 01 July 2019

Altered homeostasis of trace elements in the blood of SCA2 patients

scientific article published on 13 February 2018

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.

scientific article published on 19 March 2015

Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression

scientific article published on 28 May 2013

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions.

scientific article

Analysis ofLMNB1Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression

Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications

scientific article published on 12 December 2015

Association of a new cationic trypsinogen gene mutation (V39A) with chronic pancreatitis in an Italian family.

scientific article published in November 2005

Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

scientific article published on 01 October 2021

Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes

scientific article published on 16 August 2013

Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia

scientific article

CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS).

scientific article

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

scientific article

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

scientific article published on June 2002

Challenging arterial calcification disease associated with rare NT5E gene mutation

scientific article published on 11 June 2020

Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)

scientific article

Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)

scientific article published on 09 December 2020

Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children

scientific article published on 01 July 2000

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

scientific article published on 07 July 2019

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

scientific article

De novo 13q12.3-q14.11 deletion involvingBRCA2gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype

article

Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).

scientific article published on 5 December 2012

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

scientific article published on 12 May 2014

Definition of the smallest pathological CAG expansion in SCA7

scientific article published on 01 September 1999

Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification

scientific article published on 09 September 2019

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

scientific article

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population

scientific article (publication date: October 2000)

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

scientific article published on 28 February 2013

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

scientific article (publication date: 1998)

ELOVL5 mutations cause spinocerebellar ataxia 38

scientific article

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

scientific article published on 19 December 2016

Familial clustering of IGHC deletions and duplications: functional and molecular analysis

scientific article published on 01 January 1993

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

scientific article published on 9 November 2011

Functional evaluation of natural killer cell cytotoxic activity in NFKB2-mutated patients

scientific article published on 23 December 2017

Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.

scientific article

Gene-targeted embryonic stem cells: real-time PCR assay for estimation of the number of neomycin selection cassettes.

scientific article published on 28 October 2011

Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways

scientific article

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

scientific article published on 24 January 2019

Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients

scientific article published on 01 November 2002

Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress

scientific article published on 28 March 2007

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

scientific article

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay.

scientific article published on 11 June 2012

Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

scientific article published on 02 December 2020

Human canonical CD157/Bst1 is an alternatively spliced isoform masking a previously unidentified primate-specific exon included in a novel transcript

scientific article published on 21 November 2017

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

scientific article published on 08 February 2017

Identification of the DNA methylation signature of Mowat-Wilson syndrome

scientific article published in 2024

In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients

scientific article published on 19 November 2020

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

scientific article

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

scientific article

Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

scientific article published on February 2006

Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study

scientific article published on 07 March 2019

Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia

scientific article published on 3 August 2016

Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide

scientific article published on 3 May 2012

Messenger RNA processing is altered in autosomal dominant leukodystrophy

scientific article published on 30 January 2015

Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicity

scientific article published on 30 October 2018

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

scientific article

Missense variant contribution to USP9X-female syndrome

scientific article published on 09 December 2020

Mitochondrial stress response triggered by defects in protein synthesis quality control

scientific article published on 25 January 2019

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

scientific article

Molecular characterization of immunoglobulin G4 gene isoallotypes

scientific article published in October 1998

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

scientific article

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease

scientific article

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

scientific article published on 02 October 2008

Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

scientific article published on 05 May 2008

Mutations in the lamin B1 gene are not present in multiple sclerosis

scientific article

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

scientific article

Myelin-associated glycoprotein is altered in a familial late-onset orthochromatic leukodystrophy

scientific article published in April 2005

Myopathy in a patient with chromosome 22q11 deletion

scientific article published in April 2001

NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype-phenotype correlations

scientific article published on 18 March 2019

NT5E mutations and arterial calcifications

scientific article

New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review

scientific article published on 28 October 2020

Novel mutation of SLC20A2 in an Italian patient presenting with migraine

scientific article

O056. Migraine as presenting symptom of SLC20A2gene mutations

scientific article published on December 2015

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

scientific article published on 03 September 2018

Prognostic values of soluble CD30 and CD30 gene polymorphisms in heart transplantation

scientific article published on 01 April 2006

Progressive extreme heterotopic calcification

scientific article published on 17 May 2013

SCA Tethering-PCR: A Rapid Genetic Test for the Diagnosis of SCA1-3, 6, and 7 by PCR and Capillary Electrophoresis

scientific article published on 17 February 2018

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

scientific article

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

scientific article published on 14 August 2013

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

scientific article published on 22 November 2018

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

scientific article

Spinocerebellar Ataxia Type 28

scientific article published on 22 March 2018

Spinocerebellar ataxia type 12 identified in two Italian families may mimic sporadic ataxia

scientific article published on July 2010

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

scientific article

Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

scientific article published on 20 November 2018

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders

scientific article

TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene

scientific article published in February 2001

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014

The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients

scientific article

The G4 gene is duplicated in 44% of human immunoglobulin heavy chain constant region haplotypes

scientific article published on 01 July 1997

Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification

scientific article published on 31 March 2017

Two Italian families with ITPR1 gene deletion presenting a broader phenotype of SCA15.

scientific article published in March 2010

Two families with novel missense mutations in COL4A1: When diagnosis can be missed

scientific article

Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes

scientific article published on 23 January 2009

Variability of the immunoglobulin heavy chain constant region locus: a population study

scientific article published on 01 March 1995

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

scientific article published on 25 April 2016

X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells.

scientific article published on 20 February 2018

Paulina is supported by:

About Paulina

Help