Personal information

Neurology, Human Genetics, Neurogenetics, Neurodegenerative Diseases, Hereditary Spastic Paraplegia
Italy

Biography

Antonio Orlacchio, MD, PhD, is Director of the Medical Genetics Section of the Department of Medicine and Surgery of the University of Perugia, Perugia, Italy, and Associate Professor of Human Genetics in the same Institution. Formerly, he was Director of the Laboratory of Neurogenetics of the European Center for Brain Research, IRCCS Santa Lucia Foundation, Rome, Italy and Aggregate Professor of Neurology at the University of Rome "Tor Vergata", Rome, Italy. He graduated in Medicine and got Board certification in Neurology from the University of Perugia and was awarded the title of Doctor of Philosophy in Neuroscience at the University of Rome "Tor Vergata". He did his post-doc in Canada at the University of Toronto, in Toronto, Canada, and since 2001 he returned to Italy. He has received numerous awards and honors at national and international level, including the European Neurological Society Award, the "San Valentino d'Oro", and the honor of the Chamber of Commerce of Perugia. Dr. Orlacchio has expertise in the application of advanced molecular genetic techniques for understanding the pathogenesis of Hereditary Spastic Paraplegia, Alzheimer's disease , Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth disease and other neurodegenerative diseases and use of that knowledge for clinical problems affecting patients with these diseases. He is the Principal Investigator in many research projects at national and international level and he published more than 300 articles, including a large part of peer-reviewed manuscripts. In 2010, he has identified the gene causing a form of amyotrophic lateral sclerosis (ALS5), in 2012 the gene producing a variant of hereditary spastic paraplegia (SPG12), and in 2016 the gene causing a form of Charcot-Marie-Tooth disease (CMT2X).

Activities

Employment (8)

University of Perugia: Perugia, Umbria, IT

2020-11 to present | Director Departmental Unit - Associate Professor of Human Genetics (Department of Medicine and Surgery, University of Perugia)
Employment
Source: Self-asserted source
Antonio Orlacchio

Fondazione Santa Lucia: Rome, IT

2001-11 to 2024-06 | Director Laboratory of Neurogenetics, European Center for Brain Research, IRCCS Santa Lucia Foundation, Rome
Employment
Source: Self-asserted source
Antonio Orlacchio

Università degli Studi di Perugia: Perugia, IT

2015-12 to 2020-10 | Director Departmental Unit - Associate Professor of Human Genetics (Department of Surgical and Biomedical Sciences, University of Perugia)
Employment
Source: Self-asserted source
Antonio Orlacchio

University of Rome "Tor Vergata": Rome, IT

2012-07 to 2015-12 | Aggregate Professor of Neurology (Department of Systems Medicine, University of Rome "Tor Vergata")
Employment
Source: Self-asserted source
Antonio Orlacchio

University of Rome "Tor Vergata": Rome, IT

2009-01 to 2012-06 | Aggregate Professor of Neurology (Department of Neurosciences, University of Rome "Tor Vergata")
Employment
Source: Self-asserted source
Antonio Orlacchio

University of Rome "Tor Vergata": Rome, IT

2006-01 to 2008-12 | Assistant Professor of Neurology (Department of Neurosciences, University of Rome "Tor Vergata")
Employment
Source: Self-asserted source
Antonio Orlacchio

University of Rome "Tor Vergata": Rome, IT

2002-12 to 2005-12 | Instructor in Neurology (Department of Neurosciences, University of Rome "Tor Vergata")
Employment
Source: Self-asserted source
Antonio Orlacchio

University of Toronto: Toronto, Ontario, CA

1997-11 to 2001-11 | Post-Doctoral Fellow (Centre for Research in Neurodegenerative Diseases, University of Toronto, ON, Canada)
Employment
Source: Self-asserted source
Antonio Orlacchio

Education and qualifications (3)

University of Rome "Tor Vergata": Rome, IT

2000-11 to 2004-10 | PhD (Neurosciences)
Education
Source: Self-asserted source
Antonio Orlacchio

University of Perugia: Perugia, IT

1996-11 to 2000-10 | Board certification in Neurology
Qualification
Source: Self-asserted source
Antonio Orlacchio

Università degli Studi di Perugia: Perugia, IT

1990-11 to 1996-07 | MD
Education
Source: Self-asserted source
Antonio Orlacchio

Professional activities (23)

ENIGMA-HSP (International network for the clinical and genetic study of the hereditary spastic paraparesis): Campinas - SP, BR

2021 to present
Membership
Source: Self-asserted source
Antonio Orlacchio

International Journal of Molecular Sciences: Basel, CH

2020 to present | Editorial Section Board Member for “Molecular Genetics and Genomics”
Service
Source: Self-asserted source
Antonio Orlacchio

Journal of Translational Genetics and Genomics: Alhambra, US

2017 to present | Editorial Board Member
Service
Source: Self-asserted source
Antonio Orlacchio

Journal of Genetic Syndromes & Gene Therapy: Brussels, BE

2016 to present | Editorial Board Member
Service
Source: Self-asserted source
Antonio Orlacchio

International Parkinson and Movement Disorder Society: WI, WI, US

2015 to present | Associated Member
Membership
Source: Self-asserted source
Antonio Orlacchio

Behavioural Neurology: New York, NY, US

2014 to present | Editorial Board Member
Service
Source: Self-asserted source
Antonio Orlacchio

European Organisation for Rare Diseases: Paris, FR

2013-04-15 to present | Honorary Member of the EURO-HSP Scientific Board (Federation of European HSP Associations)
Invited position
Source: Self-asserted source
Antonio Orlacchio

SPATAX (European network for the clinical and genetic study of the hereditary spastic paraparesis and inherited ataxias): Paris, FR

2008 to present | Member
Membership
Source: Self-asserted source
Antonio Orlacchio

ITASPA (Italian network for the clinical and genetic study of the hereditary spastic paraparesis): Milan, IT

2008 to present | Member
Membership
Source: Self-asserted source
Antonio Orlacchio

Italian Neurological Society: Siena, IT

2005 to present | Member of the “Study Group of Clinical Neurogenetics”
Membership
Source: Self-asserted source
Antonio Orlacchio

Orphanet, Association for the study of rare diseases and orphan drugs: Paris, FR

2004 to present | Member
Membership
Source: Self-asserted source
Antonio Orlacchio

National Centre for Rare Diseases, Institute Superior of Health: Rome, IT

2002 to present | Member of the “Network of Excellence on Rare Diseases”
Membership
Source: Self-asserted source
Antonio Orlacchio

European Neurological Society: Basel, Basel-Stadt, CH

1999 to present | Member
Membership
Source: Self-asserted source
Antonio Orlacchio

Association of Alzheimer’s Disease Scientists: Chicago, IL, US

1998 to present | Member
Membership
Source: Self-asserted source
Antonio Orlacchio

World Journal of Neurology: Pleasanton, CA, US

2012 to 2021 | Editorial Board Member
Service
Source: Self-asserted source
Antonio Orlacchio

Frontiers in Neurology: Lausanne, CH

2017 to 2019 | Topic Editor
Service
Source: Self-asserted source
Antonio Orlacchio

Perugia Chamber of Commerce: Perugia, IT

2012-07-07 | Decoration for those who are distinguished for profound dedication and professionalism clearly established in the attainment of ever higher goals of economic progress, civil, social and cultural, in Italy and abroad
Distinction
Source: Self-asserted source
Antonio Orlacchio

Comitato per la Premiazione di un Messaggio d’Amore: Terni, IT

2010-02-27 | International Award “San Valentino d’Oro” (Palazzo Primavera, Terni) for personality that is distinguished for commitment, ability, and seriousness in his/her own activity and profession
Distinction
Source: Self-asserted source
Antonio Orlacchio

Rotary Club Rome Castelli Romani: Rome, IT

2005-06-18 | Eng. Franco Pietrandrea Award - VII Edition - for the research titled “Neurodegenerative diseases associated with aging. Biological, demographical, and epidemiological aspects of Alzheimer’s disease”
Distinction
Source: Self-asserted source
Antonio Orlacchio

European Neurological Society: Basel, Basel-Stadt, CH

2003-06-14 | European Neurological Society Award at the 13th (Istanbul, Turkey) International Conference of the European Neurological Society for the best scientific paper, entitled “Evidence for a founder SPG4 mutation and genetic heterogeneity in unrelated Scottish ADHSP families”
Distinction
Source: Self-asserted source
Antonio Orlacchio

University of Perugia: Perugia, Umbria, IT

1998-05-25 | Associazione Alberto Mezzasoma Award for young graduates to start or to continue research studies abroad
Distinction
Source: Self-asserted source
Antonio Orlacchio

PRISMA: San Donato Milanese (MI), IT

1997-06-28 | PRISMA Award for the best MD thesis on Multiple Sclerosis
Distinction
Source: Self-asserted source
Antonio Orlacchio

Italian Neurological Society: Siena, IT

1997 to 1997 | Member of the “Study Group on cerebrovascular diseases”
Membership
Source: Self-asserted source
Antonio Orlacchio

Funding (23)

Caratterizzazione di estratti vegetali per l'ideazione e la prototipazione di nuovi integratori per il trattamento integrato dei disturbi della nutrizione e dell'alimentazione (DNA)

2023-12 to 2025-12 | Grant
Università degli Studi di Perugia (Perugia, IT)
Source: Self-asserted source
Antonio Orlacchio

Studi funzionali e clinici della paraplegia spastica ereditaria associata ai lipidi

2021-06 to 2024-06 | Grant
Ministry of Health (Rome, IT)
Source: Self-asserted source
Antonio Orlacchio

Paraplegia spastica ereditaria legata ai lipidi: nuovi meccanismi funzionali e correlati clinici

2021-05 to 2023-12 | Grant
Università degli Studi di Perugia (Perugia, IT)
Source: Self-asserted source
Antonio Orlacchio

Applicazione del next-generation sequencing per studi genetico-clinici nella paraplegia spastica ereditaria ad esordio infantile

2020-01 to 2022-12 | Grant
Università degli Studi di Perugia (Perugia, IT)
GRANT_NUMBER:

DSCH_BASE19_ORLACCHIO

Source: Self-asserted source
Antonio Orlacchio

Uso di piastrine come vettori di RNA terapeutici per il trattamento del Glioblastoma Multiforme (GBM)

2018-11 to 2021-10 | Grant
Umbria Region (Perugia, IT)
Source: Self-asserted source
Antonio Orlacchio

Sequenziamento di prossima-generazione nell’approccio clinico e genetico della paraplegia spastica ereditaria

2015-03 to 2016-09 | Grant
University of Rome "Tor Vergata" (Rome, IT)
GRANT_NUMBER:

E82I15000190005

Source: Self-asserted source
Antonio Orlacchio

Ricerca per nuovi geni malattia nella paraplegia spastica ereditaria

2012-06 to 2016-05 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

GR09.109

Source: Self-asserted source
Antonio Orlacchio

Studi genetici nella sclerosi laterale amiotrofica

2012-02 to present | Grant
Rotary Club Sanluri Medio Campidano (Sanluri Medio Campidano (VS), IT)
Source: Self-asserted source
Antonio Orlacchio

Identificazione di nuovi geni-malattia nella paraplegia spastica ereditaria

2011-01 to 2014-04 | Grant
Telethon Foundation (Milan, IT)
GRANT_NUMBER:

GGP10121

Source: Self-asserted source
Antonio Orlacchio

ITASPA, un network italiano per lo studio clinico e genetico delle paraparesi spastiche ereditarie

2010-03 to 2012-09 | Grant
Ministry for Education, University, and Scientific Research (Rome, IT)
GRANT_NUMBER:

020903052/020903112

Source: Self-asserted source
Antonio Orlacchio

Paraplegia Spastica Ereditaria: ricerca per nuovi geni-malattia e correlazione genotipo-fenotipo

2010-03 to 2012-09 | Grant
University of Rome "Tor Vergata" (Rome, IT)
GRANT_NUMBER:

020903023/020903102

Source: Self-asserted source
Antonio Orlacchio

Identificazione di markers precoci biochimici e genetici per la prevenzione della malattia di Alzheimer nella popolazione affetta da diabete mellito

2008-04 to 2011-04 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

REG.17O

Source: Self-asserted source
Antonio Orlacchio

Una rete nazionale per lo studio delle atassie spinocerebellari e delle paraparesi spastiche ereditarie in Italia: epidemiologia molecolare, caratterizzazione fenotipica delle forme geneticamente non definite, identificazione e caratterizzazione di nuovi loci e geni malattia

2007-07 to 2010-01 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

PS05.21

Source: Self-asserted source
Antonio Orlacchio

Biomarcatori periferici di neurodegenerazione finalizzati alla diagnostica presintomatica e al follow-up terapeutico: un network nazionale per la Malattia di Huntington, la Malattia di Alzheimer e la Sclerosi Multipla

2007-07 to 2009-12 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

PS05.11

Source: Self-asserted source
Antonio Orlacchio

Ricerca di nuovi geni-malattia e correlazione genotipo-fenotipo nella Paraplegia Spastica Ereditaria

2006-11 to 2009-02 | Grant
Telethon Foundation (Milan, IT)
GRANT_NUMBER:

GGP06209

Source: Self-asserted source
Antonio Orlacchio

Meccanismi molecolari e cellulari delle malattie neurodegenerative del sistema motorio

2006-10 to 2010-03 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

EBRI.1O

Source: Self-asserted source
Antonio Orlacchio

I Disturbi Psicologici e Comportamentali nelle Demenze: approccio traslazionale sul ruolo della farmacogenetica, della neuroimmunologia e della caratterizzazione endofenotipica come predictors precoci della risposta al trattamento psicofarmacologico

2006-04 to 2007-12 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

PS04.20

Source: Self-asserted source
Antonio Orlacchio

Malattie neurodegenerative legate all’invecchiamento: dalla patogenesi alle prospettive terapeutiche per un progetto traslazionale

2005-07 to 2008-03 | Grant
Lundbeck Foundation (Copenaghen, DK)
GRANT_NUMBER:

COFIN04.1250

Source: Self-asserted source
Antonio Orlacchio

Malattie neurodegenerative legate all’invecchiamento: dalla patogenesi alle prospettive terapeutiche per un progetto traslazionale

2005-04 to 2008-03 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

RF04.125O

Source: Self-asserted source
Antonio Orlacchio

Ricerca di nuovi geni che causano Demenza: targets per nuovi approcci diagnostici e terapeutici

2004-01 to 2005-01 | Grant
Telethon Foundation (Milan, IT)
GRANT_NUMBER:

GGP030368

Source: Self-asserted source
Antonio Orlacchio

Il riconoscimento delle fasi precliniche di Demenza: un approccio multidisciplinare

2003-12 to 2006-06 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

RF03.1840

Source: Self-asserted source
Antonio Orlacchio

Studi di linkage e mutazionali nella Paraparesi Spastica Ereditaria

2002-12 to 2005-12 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

RF02.215

Source: Self-asserted source
Antonio Orlacchio

Malattie genetiche neurologiche: screening diagnostico ad elevata efficienza e coordinamento operativo sovra-regionale

2002-12 to 2005-06 | Grant
Ministry of Health (Rome, IT)
GRANT_NUMBER:

RF02.160

Source: Self-asserted source
Antonio Orlacchio

Works (50 of 110)

Items per page:
Page 1 of 3

Effects of APOE isoforms in diabetic nephropathy patients of South India

Acta Diabetologica
2024-10-17 | Journal article
Contributors: Preethi Basavaraju; Puthamohan Vinayaga Moorthi; Arun Meyyazhagan; Ilakkiyapavai Devaraj; Kavipriya Babu; Emanuele Panza; Antonio Orlacchio
Source: check_circle
Crossref

Experimental Cell Models for Investigating Neurodegenerative Diseases

International Journal of Molecular Sciences
2024-09-09 | Journal article
Contributors: Cecilia Evangelisti; Sherin Ramadan; Antonio Orlacchio; Emanuele Panza
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Prevalence of Cardiovascular Diseases in South Asians: Scrutinizing Traditional Risk Factors and Newly Recognized Risk Factors Sarcopenia and Osteopenia/Osteoporosis

Current Problems in Cardiology
2024-01 | Journal article
Part of ISSN: 0146-2806
Contributors: Haripriya Kuchi Bhotla; Arun Meyyazhagan; Karthika Pushparaj; Manikantan Pappuswamy; Aditi Chaudhary; Vijaya Anand Arumugam; Balamuralikrishnan Balasubramanian; Durairaj Ragu Varman; Antonio Orlacchio; Kannan RR Rengasamy
Source: Self-asserted source
Antonio Orlacchio

Special Issue “Neurogenetics in Neurology”

International Journal of Molecular Sciences
2024-01-15 | Journal article
Contributors: Antonio Orlacchio
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Hereditary spastic paraplegias proteome: common pathways and pathogenetic mechanisms

Expert Review of Proteomics
2023-09-02 | Journal article
Contributors: Chiara Martinello; Emanuele Panza; Antonio Orlacchio
Source: check_circle
Crossref

Hereditary spastic paraplegia: Genetic heterogeneity and common pathways

Experimental Neurology
2022-11 | Journal article
Part of ISSN: 0014-4886
Contributors: Emanuele Panza; Arun Meyyazhagan; Antonio Orlacchio
Source: Self-asserted source
Antonio Orlacchio

The Puzzle of Hereditary Spastic Paraplegia: From Epidemiology to Treatment.

International journal of molecular sciences
2022-07-11 | Journal article
Contributors: Meyyazhagan A; Kuchi Bhotla H; Dr Manikantan Pappuswamy; Antonio Orlacchio
Source: Self-asserted source
Antonio Orlacchio
grade
Preferred source (of 3)‎

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

Neurology Genetics
2022-04 | Journal article
Part of ISSN: 2376-7839
Contributors: Salvatore Rossi; Anna Rubegni; Vittorio Riso; Melissa Barghigiani; Maria Teresa Bassi; Roberta Battini; Enrico Bertini; Cristina Cereda; Ettore Cioffi; Chiara Criscuolo et al.
Source: Self-asserted source
Antonio Orlacchio

Nano- from nature to nurture: A comprehensive review on facets, trends, perspectives and sustainability of nanotechnology in the food sector

Energy
2022-02 | Journal article
Contributors: Karthika Pushparaj; Wen-Chao Liu; Arun Meyyazhagan; Antonio Orlacchio; Manikantan Pappusamy; Chithravel Vadivalagan; Asirvatham Alwin Robert; Vijaya Anand Arumugam; Hesam Kamyab; Jiří Jaromír Klemeš et al.
Source: check_circle
Crossref

Hereditary Spastic Paraplegia: An Update

International Journal of Molecular Sciences
2022-02-01 | Journal article
Contributors: Arun Meyyazhagan; Antonio Orlacchio
Source: check_circle
Crossref
grade
Preferred source (of 2)‎

Transmission Jeopardy of Adenomatosis Polyposis Coli and Methylenetetrahydrofolate Reductase in Colorectal Cancer

Journal of the Renin-Angiotensin-Aldosterone System
2021-01 | Journal article
Contributors: Younis Mohd; Parvinder Kumar; Haripriya Kuchi Bhotla; Arun Meyyazhagan; Balamuralikrishnan Balasubramanian; Mithun Kumar Ramesh Kumar; Manikantan Pappusamy; Karthick Kumar Alagamuthu; Antonio Orlacchio; Sasikala Keshavarao et al.
Source: check_circle
Crossref

Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2020-10-07 | Journal article
Contributors: Ikeda C; Toshitaka Kawarai; Setoyama C; Antonio Orlacchio; Imamura H
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2020-02 | Journal article
Contributors: Toshitaka Kawarai; Hiroki Yamazaki; Kei Yamakami; Ai Tsukamoto-Miyashiro; Mizuki Kodama; Roberto Rumore; Carlo Caltagirone; Ichizo Nishino; Antonio Orlacchio
Source: check_circle
Crossref

Evaluation of swallowing in patients with hereditary spastic paraplegias

Arquivos de Neuro-Psiquiatria
2019-12 | Journal article
Contributors: Antonio Orlacchio
Source: check_circle
Crossref

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

Journal of the Neurological Sciences
2019-10 | Journal article
Contributors: Toshitaka Kawarai; Antonio Orlacchio; Ryuji Kaji
Source: check_circle
Crossref

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

Neuromuscular Disorders
2019-06 | Journal article
Part of ISSN: 0960-8966
Contributors: Antonio Orlacchio; Toshitaka Kawarai; Hiroki Yamazaki; Ryosuke Miyamoto; Naoko Takamatsu; Atsuko Mori; Yusuke Osaki; Antonio Orlacchio; Hiroyuki Nodera; Akihiro Hashiguchi et al.
Source: Self-asserted source
Antonio Orlacchio

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

Parkinsonism and Related Disorders
2018 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Life Sciences
2018 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Parkinsonism & Related Disorders
2018 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

NeuroImage: Clinical
2018 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Movement Disorders
2018 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2017 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2017 | Journal article
Source: Self-asserted source
Antonio Orlacchio

A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability

Journal of Neurology, Neurosurgery and Psychiatry
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Brain
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Choreoathetosis, dystonia, and myoclonus in 3 siblings with autosomal recessive spinocerebellar ataxia type 16

JAMA Neurology
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Is modulation of oxidative stress an answer? the state of the art of redox therapeutic actions in neurodegenerative diseases

Oxidative Medicine and Cellular Longevity
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio
grade
Preferred source (of 2)‎

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

Journal of the Neurological Sciences
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio

MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2

Journal of Neurology, Neurosurgery and Psychiatry
2016 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2015 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of Neurology, Neurosurgery and Psychiatry
2015 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2015 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Bridging over the troubled heterogeneity of SPG-related pathologies: Mechanisms unite what genetics divide

Current Molecular Medicine
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Caspase 3 activation and PARP cleavage in lymphocytes from newborn babies of diabetic mothers with unbalanced glycaemic control

Cell Biochemistry and Function
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Experimental Neurology
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

MiR128 up-regulation correlates with impaired amyloid β(1-42) degradation in monocytes from patients with sporadic Alzheimer's disease

Neurobiology of Aging
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Movement Disorders Clinical Practice
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

The role of reticulons in neurodegenerative diseases

NeuroMolecular Medicine
2014 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of the Neurological Sciences
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Neurogenetics
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Multiple Sclerosis Journal
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Molecular Genetics and Metabolism
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Increasing and persistent DWI changes in a patient with Hereditary Diffuse Leukoencephalopathy with Spheroids

Journal of the Neurological Sciences
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Biochimica et Biophysica Acta - General Subjects
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Oromandibular dystonia associated with SCA36

Movement Disorders
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Tetrabenazine improves levodopa-induced peak-dose dyskinesias in patients with Parkinson's disease

Functional Neurology
2013 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Expert Opinion on Therapeutic Patents
2012 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of Clinical Investigation
2012 | Journal article
Source: Self-asserted source
Antonio Orlacchio

Development of a new tool for 3D modeling for regenerative medicine

International Journal of Biomedical Imaging
2011 | Journal article
Source: Self-asserted source
Antonio Orlacchio

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

Journal of Neurology
2011 | Journal article
Source: Self-asserted source
Antonio Orlacchio
Items per page:
Page 1 of 3

Peer review (6 reviews for 5 publications/grants)

Review activity for Acta neurologica belgica. (1)
Review activity for Experimental brain research. (1)
Review activity for Gene. (1)
Review activity for Human gene. (1)
Review activity for Neurological sciences. (2)