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List of works by Nereo Bresolin

"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia

scientific article published on 03 January 2019

A 175 million year history of T cell regulatory molecules reveals widespread selection, with adaptive evolution of disease alleles.

scientific article published on 23 May 2013

A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation

scientific article published on 31 October 2012

A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.

scientific article published in November 1995

A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy

scientific article published on 15 September 2005

A case of mitochondrial myopathy, lactic acidosis and complex I deficiency

scientific article published in November 1990

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia

scientific article from 2008

A collection of 33 novel human mtDNA homoplasmic variants

scientific article published on 01 November 2002

A complex selection signature at the human AVPR1B gene

scientific article

A cortically blind patient with preserved visual imagery

scientific article published in March 2010

A de novo C19orf12 heterozygous mutation in a patient with MPAN.

scientific article published on 27 December 2017

A functional variant in ERAP1 predisposes to multiple sclerosis

scientific article

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

scientific article

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations

scientific article

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

scientific article published in July 2009

A novel MAPT mutation associated with the clinical phenotype of progressive nonfluent aphasia

scientific article

A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures

scientific article published on 21 July 2008

A novel homozygous PLA2G6 mutation causes dystonia-parkinsonism.

scientific article published on 10 January 2015

A novel mitochondrial tRNA Ile point mutation in chronic progressive external ophthalmoplegia

scientific article published in October 1998

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

scientific article published on 16 May 2012

A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agents

article

A population genetics study of the familial Mediterranean fever gene: evidence of balancing selection under an overdominance regime

scientific article published on 13 August 2009

A positively selected APOBEC3H haplotype is associated with natural resistance to HIV-1 infection

scientific article

A region in the dystrophin gene major hot spot harbors a cluster of deletion breakpoints and generates double-strand breaks in yeast

scientific article published on 4 August 2006

A trans-specific polymorphism in ZC3HAV1 is maintained by long-standing balancing selection and may confer susceptibility to multiple sclerosis.

scientific article published on 6 January 2012

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

scientific article

ALS genetic modifiers that increase survival of SOD1 mice and are suitable for therapeutic development

scientific article published on 26 July 2011

Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy

scientific article

Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.

scientific article published in May 2009

Abnormal brain temperature in early-onset Parkinson's disease

scientific article published on 13 February 2016

Absence of TREM2 polymorphisms in patients with Alzheimer's disease and Frontotemporal Lobar Degeneration

scientific article published on 07 November 2006

Absence of angiogenic genes modification in Italian ALS patients

scientific article published in February 2008

Acute diazepam administration produces rapid increases in brain benzodiazepine receptor density ⬇️

scientific article published on October 26, 1979

Acute rhabdomyolysis induced by tonic-clonic epileptic seizures in a patient with glucose-6-phosphate dehydrogenase deficiency

scientific article published on 20 September 2013

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients

scientific article

Albuminoid genes: evolving at the interface of dispensability and selection

scientific article

Alpha1-antichymotrypsin induces TNF-alpha production and NF-kappaB activation in the murine N9 microglial cell line

scientific article published on October 2009

Altered glutamate uptake in peripheral tissues from Down syndrome patients.

scientific article published in June 2003

Alternative sources of neurons and glia from somatic stem cells.

scientific article published in January 2002

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine

scientific article published on 18 September 2007

Amyotrophic lateral sclerosis linked to a novel SOD1 mutation with muscle mitochondrial dysfunction

scientific article

An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection

scientific article

An evolutionary history of the selectin gene cluster in humans.

scientific article

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

scientific article

Analysis of intronic conserved elements indicates that functional complexity might represent a major source of negative selection on non-coding sequences

article

Analysis of splicing parameters in the dystrophin gene: relevance for physiological and pathogenetic splicing mechanisms

article

Ancient and recent selective pressures shaped genetic diversity at AIM2-like nucleic acid sensors.

scientific article

Anti-MuSK-Positive Myasthenia Gravis in a Patient with Parkinsonism and Cognitive Impairment

scientific article

Anti-sulfatide reactivity in patients with celiac disease

scientific article published on December 2016

Antisense oligonucleotide therapy for the treatment of C9ORF72 ALS/FTD diseases.

scientific article published on 09 May 2014

Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.

scientific article published in July 2009

Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample.

scientific article published on 24 March 2017

Association of a NOS1 promoter repeat with Alzheimer's disease

scientific article

Association of neuronal nitric oxide synthase C276T polymorphism with Alzheimer's disease

scientific article

BAG1 is a Protective Factor for Sporadic Frontotemporal Lobar Degeneration but not for Alzheimer's Disease

scientific article published on 01 January 2011

Balancing selection in the extended MHC region maintains a subset of alleles with opposite risk profile for different autoimmune diseases

Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving

scientific article

Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis

scientific article (publication date: August 2001)

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms

scientific article

Beta-lactam antibiotic offers neuroprotection in a spinal muscular atrophy model by multiple mechanisms: Experimental Neurology 2011; 229: 214-225.

scientific article published on October 2011

Both selective and neutral processes drive GC content evolution in the human genome

scientific article

Brain Mitochondria, Aging, and Parkinson's Disease.

scientific article

Brain temperature in multiple sclerosis

scientific article published on 24 October 2013

Brain temperature: what do we know?

scientific article published on May 2012

CCL8/MCP-2 association analysis in patients with Alzheimer's disease and frontotemporal lobar degeneration

scientific article (publication date: August 2009)

CCR2-64I polymorphism and CCR5Delta32 deletion in patients with Alzheimer's disease

scientific article published in October 2004

CD20-related signaling pathway is differently activated in normal and dystrophic circulating CD133+ stem cells

scientific article published on 01 February 2009

CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

scientific article published on 8 January 2015

CK-MM PGAM-MM G6PD and am biochemical markers of functional innervated cultured human muscle fibers

scientific article published on 01 February 1991

CXCL10 haplotypes and multiple sclerosis: association and correlation with clinical course

scientific article published in February 2007

Candidate gene analysis of IP-10 gene in patients with Alzheimer's disease

article

Candidate gene analysis of SPARCL1 gene in patients with multiple sclerosis

scientific article

Candidate gene analysis of selectin cluster in patients with multiple sclerosis

scientific article published on 25 February 2009

Candidate gene analysis of semaphorins in patients with Alzheimer's disease

scientific article published on 3 December 2009

Carnitine and acyltransferase in experimental neurogenic atrophies: changes with treatment

scientific article published on 01 January 1984

Carnitine, carnitine acyltransferases, and rat brain function.

scientific article

Cell Therapy of  -Sarcoglycan Null Dystrophic Mice Through Intra-Arterial Delivery of Mesoangioblasts

scientific article (publication date: 25 July 2003)

Cell-dependent kinase inhibitor 2A and 2B genetic variability in patients with Alzheimer's disease.

scientific article

Central hyperthermia, brain hyperthermia and low hypothalamus temperature

scientific article published on 9 August 2012

Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis

scientific article published in April 2005

Cerebrospinal fluid biomarkers in Progranulin mutations carriers

scientific article published in January 2011

Cerebrospinal fluid progranulin levels in patients with different multiple sclerosis subtypes

scientific article

Characterization of two novel SETX mutations in AOA2 patients reveals aspects of the pathophysiological role of senataxin.

scientific article published on 11 July 2009

Charcot-Marie-Tooth type 1a in a child with Long QT syndrome

scientific article published on 16 September 2008

Chemokine network in multiple sclerosis: role in pathogenesis and targeting for future treatments

scientific article published in May 2004

Chemotactic factors enhance myogenic cell migration across an endothelial monolayer.

scientific article

Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.

scientific article published on May 1994

Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study

scientific article

Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency.

scientific article published in May 1993

Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.

scientific article

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

scientific article

Clinical experience with topiramate dosing and serum levels in patients with epilepsy.

scientific article published on 6 January 2006

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.

scientific article published on 31 January 2011

Clinical studies in stem cells transplantation for stroke: a review

scientific article published in January 2010

Clinical varieties of neuromuscular disease in debrancher deficiency

scientific article published on 01 October 1984

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

scientific article published in February 2008

Cognitive impairment in Duchenne muscular dystrophy.

scientific article published on July 1994

Cognitive impairment in neuromuscular disorders.

scientific article

Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion

scientific article

Comparative Analysis of Vertebrate Dystrophin Loci Indicate Intron Gigantism as a Common Feature ⬇️

scientific article published on May 1, 2003

Comparative analysis of the human dystrophin and utrophin gene structures

scientific article (publication date: February 2002)

Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene

scientific article published on 4 January 2006

Congenital myopathy associated with abnormal accumulation of desmin and dystrophin

scientific article published in January 1992

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant ⬇️

scientific article published on October 1, 2012

Correlation of circulating CD133+ progenitor subclasses with a mild phenotype in Duchenne muscular dystrophy patients

scientific article

Crohn's disease loci are common targets of protozoa-driven selection

scientific article published on 6 February 2013

Cryptogenic Epileptic Syndromes Related to SCN1A

scientific article published on 01 April 2008

Cytochrome c oxidase deficiency

scientific article

Cytochrome c oxidase during human fetal development.

scientific article

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

scientific article published in January 1998

DCUN1D1 is a risk factor for frontotemporal lobar degeneration.

scientific article

DPP6 gene variability confers increased risk of developing sporadic amyotrophic lateral sclerosis in Italian patients

scientific article published on 12 February 2008

Decreased circulating miRNA levels in patients with primary progressive multiple sclerosis

scientific article published in December 2013

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

scientific article published on 11 September 2013

Development of Therapeutics for C9ORF72 ALS/FTD-Related Disorders

scientific article

Developmental and tissue-specific regulation of a novel dysferlin isoform.

scientific article published in September 2004

Direct reprogramming of adult somatic cells into other lineages: past evidence and future perspectives

scientific article published on 03 October 2012

Direct reprogramming of human astrocytes into neural stem cells and neurons.

scientific article

Disorders of cognitive and affective development in cerebellar malformations.

scientific article published on 14 September 2007

Diverse evolutionary histories for beta-adrenoreceptor genes in humans

scientific article published on 02 July 2009

Diverse selective regimes shape genetic diversity at ADAR genes and at their coding targets

scientific article published on January 2015

E-selectin A561C and G98T polymorphisms influence susceptibility and course of multiple sclerosis

scientific article published in August 2005

Early onset behavioral variant frontotemporal dementia due to the C9ORF72 hexanucleotide repeat expansion: psychiatric clinical presentations

scientific article published in January 2012

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene

scientific article

Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C

scientific article published on 01 March 1995

Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy Δ7 Mouse Model Phenotype

scientific article published on 01 March 2014

Effect of human skin-derived stem cells on vessel architecture, tumor growth, and tumor invasion in brain tumor animal models

scientific article published on April 2007

Effect of steroid treatment in cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

scientific article published on 16 December 2008

Effects of gender and posture on thoraco-abdominal kinematics during quiet breathing in healthy adults.

scientific article published on 25 May 2010

Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy

scientific article

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Electrophysiological analysis of cognitive slowing in subjects with mitochondrial encephalomyopathy

scientific article published on 01 February 2002

Embryonic stem cell-derived neural stem cells improve spinal muscular atrophy phenotype in mice.

scientific article

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

scientific article published in October 2002

Evolutionary analysis of the contact system indicates that kininogen evolved adaptively in mammals and in human populations

scientific article published on 16 March 2013

Ex vivo expansion of human circulating myogenic progenitors on cluster-assembled nanostructured TiO2.

scientific article published on 15 April 2010

Expression and genetic analysis of miRNAs involved in CD4+ cell activation in patients with multiple sclerosis

scientific article published on 19 August 2011

Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature

scientific article published on 25 October 2013

FUS/TLS Genetic Variability in Sporadic Frontotemporal Lobar Degeneration

scientific article published on 01 January 2010

Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study

scientific article

Fas small interfering RNA reduces motoneuron death in amyotrophic lateral sclerosis mice

scientific article published in July 2007

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

article

Fixation of conserved sequences shapes human intron size and influences transposon-insertion dynamics

scientific article published in September 2005

Focal cognitive impairment in mitochondrial encephalomyopathies: a neuropsychological and neuroimaging study.

scientific article published in November 1999

Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.

scientific article published on 13 June 2006

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients

scientific article

Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)

scientific article

GRN variability contributes to sporadic frontotemporal lobar degeneration

scientific article

GSK3β genetic variability in patients with Multiple Sclerosis

scientific article

Gait pattern in Duchenne muscular dystrophy.

scientific article published on 25 July 2008

Gender-specific influence of the chromosome 16 chemokine gene cluster on the susceptibility to Multiple Sclerosis

scientific article

Gene function and expression level influence the insertion/fixation dynamics of distinct transposon families in mammalian introns

scientific article (publication date: 2006)

Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model

scientific article

Generation of skeletal muscle cells from embryonic and induced pluripotent stem cells as an in vitro model and for therapy of muscular dystrophies.

scientific article published on July 2012

Genetic adaptation of the human circadian clock to day-length latitudinal variations and relevance for affective disorders

scientific article

Genetic correction of human induced pluripotent stem cells from patients with spinal muscular atrophy

scientific article

Genetic diversity at endoplasmic reticulum aminopeptidases is maintained by balancing selection and is associated with natural resistance to HIV-1 infection

article

Genetic polymorphisms for the study of multifactorial stroke.

scientific article published on June 2008

Genetic variability in the ACE gene region surrounding the Alu I/D polymorphism is maintained by balancing selection in human populations

scientific article

Genetics and expression analysis of the specificity protein 4 gene (SP4) in patients with Alzheimer's disease and frontotemporal lobar degeneration

scientific article published in January 2012

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin

scientific article published on 06 April 2017

Genome-wide identification of susceptibility alleles for viral infections through a population genetics approach

scientific article (publication date: 19 February 2010)

Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up

scientific article published on 12 March 2011

Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice

scholarly article by Serena Pagliarani published in October 2018

Glycogen storage disease type III: A novel Agl knockout mouse model.

scientific article

Growing Evidence about the Relationship between Vessel Dissection and Scuba Diving.

scientific article published on 12 September 2013

Growth factors in ischemic stroke.

scientific article

Guillain-Barré syndrome after rtPA therapy for acute stroke

scientific article published on 08 May 2010

Heparan sulfate proteoglycan induces the production of NO and TNF-alpha by murine microglia

scientific article

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

scientific article published in October 2003

High tumor necrosis factor-alpha [corrected] levels in cerebrospinal fluid of cobalamin-deficient patients

scientific article published on 01 December 2004

High-resolution X-ray microtomography for three-dimensional visualization of human stem cell muscle homing.

scientific article published on 27 September 2006

Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle

scientific article published in July 2004

Human circulating AC133+ stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle

Human fetal brain chemistry as detected by proton magnetic resonance spectroscopy

scientific article

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

Human skin-derived stem cells migrate throughout forebrain and differentiate into astrocytes after injection into adult mouse brain

scientific article published on 01 August 2004

IP-10 serum levels are not increased in mild cognitive impairment and Alzheimer's disease

scientific article published in April 2007

ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases

scientific article published on 24 September 2015

Identification of a new susceptibility variant for multiple sclerosis in OAS1 by population genetics analysis.

scientific article

Identification of a primitive brain-derived neural stem cell population based on aldehyde dehydrogenase activity.

scientific article published on 17 November 2005

Identification of a putative pathway for the muscle homing of stem cells in a muscular dystrophy model

scientific article

IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.

scientific article

Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency

scientific article published on 01 June 1994

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

scientific article published on 3 July 2014

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

scientific article published on 23 January 2014

In vivo biolistic technique in control and mdx dystrophic mice

scientific article published on 01 July 1996

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

scientific article published on 24 September 2007

Incontinence in Late-Onset Pompe Disease: An Underdiagnosed Treatable Condition

scientific article published in 2012

Increased brain temperature in Parkinson's disease

scientific article

Induced neural stem cells: methods of reprogramming and potential therapeutic applications

scientific article

Inducible nitric oxide synthase (iNOS) in immune-mediated demyelination and Wallerian degeneration of the rat peripheral nervous system

scientific article

Induction of neurotrophin expression via human adult mesenchymal stem cells: implication for cell therapy in neurodegenerative diseases

scientific article published in January 2007

Influence of the Glu298Asp polymorphism of NOS3 on age at onset and homocysteine levels in AD patients

scientific article

Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice.

scientific article published on January 2001

Intracellular Delivery of a Tat-eGFP Fusion Protein into Muscle Cells

scientific article published on 01 March 2001

Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.

scientific article

Intrathecal chemokine levels in Alzheimer disease and frontotemporal lobar degeneration.

scientific article published in January 2006

Intrathecal chemokine synthesis in mild cognitive impairment and Alzheimer disease

scientific article published in April 2006

Intrathecal levels of IL-6, IL-11 and LIF in Alzheimer's disease and frontotemporal lobar degeneration

scientific article

Intron size in mammals: complexity comes to terms with economy

scientific article published on 30 October 2006

Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy

scientific article published on 6 January 2018

Iron release and oxidant damage in human myoblasts by divicine

scientific article published on 01 January 2000

Is KIF24 a genetic risk factor for Frontotemporal Lobar Degeneration?

scientific article

Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis

scientific article

Is erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?

scientific article published in May 2009

Isolation and characterization of murine neural stem/progenitor cells based on Prominin-1 expression

scientific article published on 28 March 2007

Lactate detection in the brain of growth-restricted fetuses with magnetic resonance spectroscopy

scientific article

Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations

scientific article published on 13 July 2020

Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: an adult case

scientific article published on 01 January 1992

Long-standing balancing selection in the THBS4 gene: influence on sex-specific brain expression and gray matter volumes in Alzheimer disease.

scientific article

Long-term balancing selection maintains trans-specific polymorphisms in the human TRIM5 gene

scientific article published on 2 September 2010

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

scientific article published on 01 March 2000

Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in adolescents and young adults with Duchenne Muscular Dystrophy.

scientific article published on 13 November 2011

Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation

scientific article published on 07 May 2014

MCP-1 A-2518G polymorphism: effect on susceptibility for frontotemporal lobar degeneration and on cerebrospinal fluid MCP-1 levels

scientific article

MCP-1 in Alzheimer's disease patients: A-2518G polymorphism and serum levels

scientific article published in October 2004

MDC/CCL22 intrathecal levels in patients with multiple sclerosis.

scientific article

MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.

scientific article published on 29 May 2015

MUSCLE G6PD DEFICIENCY

scientific article published in The Lancet

Magnetic resonance spectroscopy in Parkinson's disease and parkinsonian syndromes

scientific article published on April 2007

Marked aging-related decline in efficiency of oxidative phosphorylation in human skin fibroblasts.

scientific article

McArdle's disease: two clinical expressions in the same pedigree

scientific article published on 01 July 1990

MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors.

scientific article published on 4 July 2018

Migraine, stroke and patent foramen ovale: a dangerous trio?

scientific article published on March 2008

Minimally invasive transplantation of iPSC-derived ALDHhiSSCloVLA4+ neural stem cells effectively improves the phenotype of an amyotrophic lateral sclerosis model.

scientific article published on 04 September 2013

Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion

scientific article published in November 2003

Mitochondrial DNA G8363A mutation in the tRNA Lys gene: clinical, biochemical and pathological study

scientific article published on 10 March 2009

Mitochondrial abnormalities in migraine. Preliminary findings

scientific article published on 01 August 1988

Mitochondrial fusion proteins and human diseases.

scientific article published on 27 May 2013

Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.

scientific article published on July 2010

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases

scientific article published in April 2004

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Molecular therapeutic strategies for spinal muscular atrophies: current and future clinical trials.

scientific article

Molecular, genetic and stem cell-mediated therapeutic strategies for spinal muscular atrophy (SMA)

scientific article

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype

scientific article published on 16 February 2016

Motoneuron Transplantation Rescues the Phenotype of SMARD1 (Spinal Muscular Atrophy with Respiratory Distress Type 1)

scientific article published on 23 September 2009

Multiple deletions of mitochondrial DNA in a patient with periodic attacks of paralysis

scientific article published in July 1993

Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy

scientific article published in May 1994

Multiple neutral maltase activities in normal and acid maltase-deficient human muscle

scientific article published on 01 June 1984

Multiple sclerosis and mitochondrial myopathy: An unusual combination of diseases

scientific article published in 1994

Multipotentiality, homing properties, and pyramidal neurogenesis of CNS-derived LeX(ssea-1)+/CXCR4+ stem cells

scientific article

Multisystem triglyceride storage disorder with impaired long-chain fatty acid oxidation.

scientific article published in January 1980

Muscle coenzyme Q10 level in statin-related myopathy

scientific article

Muscle glucose 6-phosphate dehydrogenase (G6PD) deficiency and oxidant stress during physical exercise

scientific article published on 01 December 1995

Muscle glucose-6-phosphate dehydrogenase deficiency

scientific article published on 01 May 1989

Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and 31P-MR spectroscopy.

scientific article published in March 1994

Muscular dystrophy: central nervous system alpha-dystroglycan glycosylation defects and brain malformation

scientific article published on 25 July 2009

Mutational analysis of COQ2 in patients with MSA in Italy

article

Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis

scientific article

Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability

scientific article published on 24 January 2013

Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.

scientific article

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.

scientific article

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients

scientific journal article

Natural Selection at the Brush-Border: Adaptations to Carbohydrate Diets in Humans and Other Mammals.

scientific article published on 28 August 2015

Neural stem cell transplantation can ameliorate the phenotype of a mouse model of spinal muscular atrophy

scientific article

Neural stem cells LewisX+ CXCR4+ modify disease progression in an amyotrophic lateral sclerosis model.

scientific article

Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site

scientific article published on November 2011

Neuroectodermal and microglial differentiation of bone marrow cells in the mouse spinal cord and sensory ganglia.

scientific article published in December 2002

Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.

scientific article published on 19 March 2012

Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration

scientific article published on 27 November 2007

Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.

scientific article published on 8 April 2009

New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.

scientific article

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

scientific article published in January 2011

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

scientific article

Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients

scientific article published on 25 January 2012

No association of IFI16 (interferon-inducible protein 16) variants with susceptibility to multiple sclerosis

scientific article published on 16 April 2014

No major progranulin genetic variability contribution to disease etiopathogenesis in an ALS Italian cohort

scientific article

Normal muscle mitochondrial function in Ramsay-Hunt syndrome.

scientific article published in February 1989

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

scientific article published on 31 October 2013

Novel Splice-Site Mutation in SMN1 Associated with a very Severe SMA-I Phenotype

scientific article published on 9 January 2015

Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia

scientific article published on 30 June 2008

Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa

scientific article published in 1999

Novel exon 1 progranulin gene variant in Alzheimer's disease.

scientific article published on 26 August 2008

Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.

scientific article

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

scientific article

OASes and STING: adaptive evolution in concert

scientific article published on 9 March 2015

Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.

scientific article published on 18 June 2013

Optic atrophy plus phenotype due to mutations in the OPA1 gene: two more Italian families.

scientific article published on 22 December 2011

Optic neuritis as isolated manifestation of leptomeningeal carcinomatosis: a case report and systematic review of ocular manifestations of neoplastic meningitis

scientific article

Over-representation of exonic splicing enhancers in human intronless genes suggests multiple functions in mRNA processing

article

Oxidative imbalance in patients with mild cognitive impairment and Alzheimer's disease

scientific article published on 17 February 2005

P-selectin glycoprotein ligand-1 variable number of tandem repeats (VNTR) polymorphism in patients with multiple sclerosis

scientific article published on 01 November 2005

PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics

scientific article published on 10 October 2012

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions

scientific article

Parkin polymorphisms and environmental exposure: decrease in age at onset of Parkinson's disease.

scientific article published on 20 January 2007

Parkinson's disease and brain mitochondrial dysfunction: a functional phosphorus magnetic resonance spectroscopy study

scientific article published on 01 February 2006

Parkinson's disease, chronic hydrocarbon exposure and striatal neuronal damage: a 1-H MRS study.

scientific article

Pediatric biobanking: a pilot qualitative survey of practices, rules, and researcher opinions in ten European countries.

scientific article published on 13 December 2011

Peripheral neuropathy in mitochondrial disease

scientific article published on 01 February 1987

Phenotypic Heterogeneity of the GRN Asp22fs Mutation in a Large Italian Kindred

article

Phosphoglycerate kinase deficiency myopathy: biochemical and immunological studies of the mutant enzyme

scientific article published on 01 September 1984

Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

scientific article

Polymorphisms in the CPB2 Gene Are Maintained by Balancing Selection and Result in Haplotype-Preferential Splicing of Exon 7

article

Population genetics of IFIH1: ancient population structure, local selection, and implications for susceptibility to type 1 diabetes

scientific article published on 10 June 2010

Post-Activation Brain Warming: A 1-H MRS Thermometry Study

scientific article published on 26 May 2015

Preliminary evidence that VEGF genetic variability confers susceptibility to frontotemporal lobar degeneration.

scientific article published on August 2008

Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

scientific article published on 01 May 2001

Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis

scientific article published on 01 October 2005

Progranulin gene (GRN) promoter methylation is increased in patients with sporadic frontotemporal lobar degeneration

scientific article

Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia

scientific article

Progranulin gene variability increases the risk for primary progressive multiple sclerosis in males

article

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease

scientific article published on 14 August 2009

Progressive Encephalomyelitis with Rigidity and Myoclonus Associated With Anti-GlyR Antibodies and Hodgkin's Lymphoma: A Case Report

scientific article published on 10 August 2017

Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues

scientific article published on 01 June 1987

Progressive, isolated language disturbance: its significance in a 65-year-old-man. A case report with implications for treatment and review of literature

scientific article

Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures

scientific article

Rapid direct diagnosis of deletions carriers of Duchenne and Becker muscular dystrophies

scientific article published on 01 July 1994

Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets

article

Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot

scientific article

Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions

scientific article published on 8 December 2017

Report of the 95th European Neuromuscular Centre (ENMC) sponsored international workshop cognitive impairment in neuromuscular disorders, Naarden, The Netherlands, 13-15 July 2001

scientific article published on 01 January 2003

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

scientific article

Respiratory pattern in an adult population of dystrophic patients

scientific article published in July 2011

Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice

scientific article

Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.

scientific article

Role of OLR1 and its regulating hsa-miR369-3p in Alzheimer's disease: genetics and expression analysis.

scientific article published in January 2011

Role of VEGF gene variability in longevity: A lesson from the Italian population

article

Role of hnRNP-A1 and miR-590-3p in neuronal death: genetics and expression analysis in patients with Alzheimer disease and frontotemporal lobar degeneration.

scientific article published on 6 May 2011

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

scientific article

Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.

scientific article published in February 1995

SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosis

scientific article published on 27 October 2005

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation

scientific article published on 24 August 2007

Safety of Systemic Chemotherapy in a Patient With Mitochondrial Myopathy and Non–Small-Cell Lung Cancer

scientific article published on 20 August 2012

Sciatic endometriosis presenting as periodic (catamenial) sciatic radiculopathy

scientific article published on 04 January 2012

Selective DNA methylation of BDNF promoter in bipolar disorder: differences among patients with BDI and BDII.

scientific article

Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons

scientific article published on 9 August 2016

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

scientific article

Serum MCP-1 levels are increased in mild cognitive impairment and mild Alzheimer's disease

scientific article published on 22 November 2005

Silencer elements as possible inhibitors of pseudoexon splicing

scientific article

Skeletal muscle gene expression profiling in mitochondrial disorders.

scientific article published on 23 February 2005

Skin-derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection.

scientific article published on March 2007

Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy.

scientific article published on 5 March 2012

Spinal muscular atrophy phenotype is ameliorated in human motor neurons by SMN increase via different novel RNA therapeutic approaches

scientific article published on 30 June 2015

Spontaneous blinking in healthy persons: an optoelectronic study of eyelid motion

scientific article

Sporadic distal myopathy with early adult onset: study of muscle biopsies and muscle cell cultures

scientific article published on 01 January 1989

Stem cell salvage of injured peripheral nerve

scientific article published on 21 November 2013

Stem cell therapy in stroke.

scientific article published on March 2009

Stem cell transplantation for amyotrophic lateral sclerosis: therapeutic potential and perspectives on clinical translation.

scientific article published on 04 April 2014

Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.

scientific article published on 10 May 2011

Stormorken Syndrome Caused by a p.R304W Mutation: The First Italian Patient and a Review of the Literature

article

Study of attentional processes in children with idiopathic epilepsy by Conners' Continuous Performance Test

scientific article

Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation

article

Systemic transplantation of c-kit+ cells exerts a therapeutic effect in a model of amyotrophic lateral sclerosis

scientific article published on 22 July 2010

TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.

scientific article published on 19 February 2009

The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects

scientific article (publication date: June 2003)

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

scientific article published on 3 August 2010

The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration

scientific article

The T-786C NOS3 polymorphism in Alzheimer's disease: association and influence on gene expression

scientific article published on 7 April 2005

The brain is hypothermic in patients with mitochondrial diseases

scientific article

The dystrophin gene is alternatively spliced throughout its coding sequence.

scientific article

The evolutionary history of genes involved in spoken and written language: beyond FOXP2.

scientific article

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

scientific article

The genetic features of 24 patients affected by familial and sporadic hemiplegic migraine

article by A. Gallanti et al published 30 April 2011 in Neurological Sciences

The influence of coenzyme Q10 on total serum calcium concentration in two patients with kearns-sayre syndrome and hypoparathyroidism

scientific article published in January 1996

The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

scientific article

The landscape of human genes involved in the immune response to parasitic worms ⬇️

scientific article published on August 31, 2010

The low-affinity receptor for neurotrophins p75NTR plays a key role for satellite cell function in muscle repair acting via RhoA

scientific article

The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment

scientific article published on 18 February 2010

The mammalian complement system as an epitome of host-pathogen genetic conflicts.

scientific article published on 2 February 2016

The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency

scientific article published on 30 April 2009

The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

scientific article published on 21 December 2011

The role of interleukin-6 (IL-6) in the proliferation and differentiation of human neural stem cells

The role of protozoa-driven selection in shaping human genetic variability

scientific article published on 25 January 2010

The signature of long-standing balancing selection at the human defensin beta-1 promoter.

scientific article published on 25 September 2008

Trans -acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles

article

Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle.

scientific article published in May 2001

Transient response to immune therapies in post-irradiation lumbosacral radiculoplexopathy

scientific article published on 01 April 2004

Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1.

scientific article

Transthyretin Asn90 variant: amyloidogenic or non-amyloidogenic role.

scientific article

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

Two novel mutations in PEO1 (twinkle) gene associated with chronic external ophthalmoplegia.

scientific article

Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation

scientific article published on 23 February 2011

Ubidecarenone in the treatment of mitochondrial myopathies: a multi-center double-blind trial.

scientific article

Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation.

scientific article published on 27 July 2011

Usefulness of Multi-Parametric MRI for the Investigation of Posterior Cortical Atrophy

scientific article published on 19 October 2015

VCAM-1 expression on dystrophic muscle vessels has a critical role in the recruitment of human blood-derived CD133+ stem cells after intra-arterial transplantation

scientific article

VEGF gene variability and type 1 diabetes: evidence for a protective role

scientific article published in March 2006

VEGF genetic variability is associated with increased risk of developing Alzheimer's disease

scientific article published on 9 March 2009

VEGF haplotypes are associated with increased risk to progressive supranuclear palsy and corticobasal syndrome

scientific article published in January 2010

Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis

scientific article

Variants in SNAP25 are targets of natural selection and influence verbal performances in women

scientific article

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

scientific article published in March 2005

Widespread balancing selection and pathogen-driven selection at blood group antigen genes

scientific article

iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1

scientific article

iPSC-derived LewisX+CXCR4+β1-integrin+ neural stem cells improve the amyotrophic lateral sclerosis phenotype by preserving motor neurons and muscle innervation in human and rodent models.

scientific article published on 6 June 2016

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