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List of works by Antonio Orlacchio

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

scientific article published on 8 July 2015

A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis

scientific article published on 29 August 2013

A novel AIFM1 missense mutation in a Japanese patient with ataxic sensory neuronopathy and hearing impairment

scientific article published on 20 November 2019

A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

scientific article published on 26 October 2017

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

article

AD with subcortical white matter lesions and vascular dementia: CSF markers for differential diagnosis

scientific article published in October 2005

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease

scientific article published on 10 November 2015

Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.

scientific article published in July 1998

Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees

article

Activity levels of a β1,6 N-acetylglucosaminyltransferase in lymphomonocytes from multiple sclerosis patients

scientific article published on 01 October 1997

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease

scientific article published in May 1999

Application of long-range polymerase chain reaction in the diagnosis of X-linked dystonia-parkinsonism

scientific article

Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms

scientific article

Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease

scientific article (publication date: 31 May 2002)

Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity

article

COX inhibitors and bone: A safer impact on osteoblasts by NO-releasing NSAIDs

scientific article published on 07 July 2018

CSF markers in Alzheimer disease patients are not related to the different degree of cognitive impairment

Cathepsin D expression is decreased in Alzheimer's disease fibroblasts

scholarly article by Lorena Urbanelli et al published January 2008 in Neurobiology of Aging

Characterization of human Enah gene

scientific article published on 25 January 2006

Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings With Autosomal Recessive Spinocerebellar Ataxia Type 16

article published in 2016

Clinical and genetic study of a large SPG4 Italian family

scientific article published in August 2005

Compositions and methods for treatment of Parkinson's disease: a patent evaluation of WO2011/102847A1.

scientific article published on 18 January 2012

Constitutive expression of ?-N-acetylhexosaminidase in a microglial cell line: Transcriptional modulation by lipopolysaccharide and serum factors ⬇️

scientific article published on October 1, 1997

Cytokine secretion and nitric oxide production by mononuclear cells of patients with multiple sclerosis ⬇️

scientific article published on December 1, 1997

Development of a New Tool for 3D Modeling for Regenerative Medicine

scientific article

Effects of vitamin C on fibroblasts from sporadic Alzheimer's disease patients

scientific article published on 28 November 2007

Elevated β-N-acetylhexosaminidase activity in focal dystonia fibroblasts

scientific article published on 01 October 1999

Evaluation of swallowing in patients with hereditary spastic paraplegias

scientific article published on 01 December 2019

Exome sequencing identifies a novel intronic mutation in ENG that causes recurrence of pulmonary arteriovenous malformations

Expression of cathepsins S and D signals a distinctive biochemical trait in CD34+ hematopoietic stem cells of relapsing-remitting multiple sclerosis patients

scientific article published on 25 February 2013

Hereditary Spastic Paraplegia: An Update

scientific article published on 01 February 2022

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10.

scientific article

Hereditary spastic paraplegia: clinical genetic study of 15 families

scientific article published in June 2004

Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms

scientific article

Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome.

scientific article published on 25 September 2013

Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids

scientific article published on 30 August 2013

Is Modulation of Oxidative Stress an Answer? The State of the Art of Redox Therapeutic Actions in Neurodegenerative Diseases

scientific article

Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis

article

Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene

scientific article

Late-onset CMT2 associated with a novel missense mutation in the cytoplasmic domain of the MPZ gene

article

Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation

Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis

Late-onset spastic paraplegia: Aberrant SPG11 transcripts generated by a novel splice site donor mutation

Lesser motor disability in adulthood: A ten-year follow-up of a dyskinetic patient with ADCY5 mutation

scientific article published on 31 July 2019

Lysosomal β-galactosidase and β-hexosaminidase activities correlate with clinical stages of dementia associated with Alzheimer's disease and type 2 diabetes mellitus

scientific article published in January 2011

MFN2transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

MicroRNA implications across neurodevelopment and neuropathology

scientific article published on 13 October 2009

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

scientific article

Mutations in the open reading frame of the beta-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease.

scientific article published on October 2001

Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia

scientific article published on 11 June 2014

Neuroacanthocytosis associated with a defect of the 4.1R membrane protein

scientific article published on 13 February 2007

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.

scientific article published in September 2005

Nitric oxide depletion alters hematopoietic stem cell commitment toward immunogenic dendritic cells

scientific article

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Oromandibular dystonia associated with SCA36.

scientific article published on 6 February 2013

PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability

scientific article published on 28 March 2019

Patented therapeutic RNAi strategies for neurodegenerative diseases of the CNS

Platelet glycohydrolase activities: Characterization and release

scientific article published in 1995

Purification and properties of human urinary β-d-mannosidase

scientific article published on 01 March 1996

RNA interference as a tool for Alzheimer's disease therapy

scientific article

Research actuality in the genetics of stroke

scientific article published on April 2006

Role of the H1 haplotype of microtubule-associated protein tau (MAPT) gene in Greek patients with Parkinson's disease

scientific article

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

scientific article

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage.

scientific article

SPG11-related parkinsonism: Clinical profile, molecular imaging and l-dopa response

scientific article published on 10 October 2018

Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4

Spastic paraplegia in Romania: high prevalence of SPG4 mutations

scientific article published on 30 October 2007

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

scientific article

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

scientific article published on 9 July 2017

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spontaneous sleep modulates the firing pattern of parkinsonian subthalamic nucleus

scientific article published on 18 November 2005

Stem cells: an overview of the current status of therapies for central and peripheral nervous system diseases

scientific article

Subthalamic stimulation activates internal pallidus: evidence from cGMP microdialysis in PD patients.

scientific article published in March 2005

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment

scientific article published on 12 July 2022

The role of reticulons in neurodegenerative diseases.

scientific article

Trans-crocetin improves amyloid-β degradation in monocytes from Alzheimer's Disease patients

scientific article published on 6 November 2016

Treatment of the symptoms of Huntington's disease: preliminary results comparing aripiprazole and tetrabenazine

scientific article published in January 2009

Up-regulation of glycohydrolases in Alzheimer's Disease fibroblasts correlates with Ras activation

scientific article published on 23 July 2003

Upper motor neuron involvement in X-linked recessive bulbospinal muscular atrophy.

scientific article published on 29 November 2006

miR128 up-regulation correlates with impaired amyloid β(1-42) degradation in monocytes from patients with sporadic Alzheimer's disease

scientific article

α2-Macroglobulin polymorphisms in Italian sporadic and familial Alzheimer's disease

article

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