Publications by authors named "Manuel Melo-Pires"

42Publications

Two Compound Heterozygous Variants in Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Front Genet 2020 24;11:1038. Epub 2020 Sep 24.

Unidade de Genética Molecular, Centro de Genética Médica Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUP), Porto, Portugal.

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http://dx.doi.org/10.3389/fgene.2020.01038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7543990PMC
September 2020

Clinicopathological correlations of sural nerve biopsies in Val30Met familial amyloid polyneuropathy.

Brain Commun 2019 4;1(1):fcz032. Epub 2019 Nov 4.

Institute of Biomedical Sciences Abel Salazar, Universidade do Porto, 4050-313 Porto, Portugal.

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http://dx.doi.org/10.1093/braincomms/fcz032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425381PMC
November 2019

Brain biopsy in suspected non-neoplastic neurological disease.

Acta Neurochir (Wien) 2019 06 23;161(6):1139-1147. Epub 2019 Apr 23.

Neuropathology Unit, Hospital de Santo Antonio, Centro Hospitalar e Universitario do Porto, Porto, Portugal.

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http://dx.doi.org/10.1007/s00701-019-03910-8DOI Listing
June 2019

Late-onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations.

Mov Disord Clin Pract 2018 Nov-Dec;5(6):645-648. Epub 2018 Oct 17.

Neurology Department Hospital de Santo António, Centro Hospitalar do Porto Portugal.

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http://dx.doi.org/10.1002/mdc3.12668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277373PMC
October 2018

Vascular Pathology Causing Late Onset Generalized Chorea: A Clinico-Pathological Case Report.

Mov Disord Clin Pract 2017 Nov-Dec;4(6):819-823. Epub 2017 Sep 8.

Department of Neurology Centro Hospitalar do Porto Porto Portugal.

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http://doi.wiley.com/10.1002/mdc3.12528
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http://dx.doi.org/10.1002/mdc3.12528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174401PMC
September 2017

is a novel oncogenic prognostic biomarker in human glioblastoma.

Theranostics 2018 9;8(17):4805-4823. Epub 2018 Sep 9.

Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho, Campus Gualtar, 4710-057 Braga, Portugal.

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http://www.thno.org/v08p4805.htm
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http://dx.doi.org/10.7150/thno.25025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160775PMC
September 2019

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene.

Genes (Basel) 2017 Oct 3;8(10). Epub 2017 Oct 3.

Unidade de Genética Molecular, Centro de Genética Médica Dr. Jacinto Magalhães, Centro Hospitalar do Porto, 4050-106 Porto, Portugal.

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http://dx.doi.org/10.3390/genes8100253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664103PMC
October 2017

Patterns of Microglial Cell Activation in Alzheimer Disease and Frontotemporal Lobar Degeneration.

Neurodegener Dis 2017 27;17(4-5):145-154. Epub 2017 Apr 27.

Neuropathology Unit, Neurosciences Department, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1159/000457127DOI Listing
April 2018

Inflammatory myopathy associated with myasthenia gravis with and without thymic pathology: Report of four cases and literature review.

Autoimmun Rev 2017 Jun 13;16(6):644-649. Epub 2017 Apr 13.

Nuffield Department of Clinical Neurosciences, Oxford University Hospitals and University of Oxford, Oxford, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.autrev.2017.04.009DOI Listing
June 2017

Amyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome.

Amyloid 2017 Jun 16;24(2):73-77. Epub 2017 Apr 16.

c Neurophysiology Department , Centro Hospitalar do Porto - Hospital de Santo António , Porto , Portugal.

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http://dx.doi.org/10.1080/13506129.2017.1313222DOI Listing
June 2017

Reply.

Muscle Nerve 2017 11 12;56(5):E49. Epub 2017 Apr 12.

Newborn Screening, Metabolism and Genetics Unit, Human Genetics Department, Dr Ricardo Jorge National Health Institute, Porto, Portugal.

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http://dx.doi.org/10.1002/mus.25650DOI Listing
November 2017

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

J Neuromuscul Dis 2017 ;4(1):67-76

Neuromuscular Disorders Outpatient Clinic and Department of Neuropaediatrics, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.3233/JND-160199DOI Listing
March 2018

Clinical, biochemical, molecular, and histological features of 65 Portuguese patients with mitochondrial disorders.

Muscle Nerve 2017 Nov 4;56(5):868-872. Epub 2017 Apr 4.

Newborn screening, Metabolism and Genetics Unit, Human Genetics Department, Dr. Ricardo Jorge National Health Institute, Porto, Portugal.

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http://dx.doi.org/10.1002/mus.25593DOI Listing
November 2017

Does the Interplay Between Aging and Neuroinflammation Modulate Alzheimer's Disease Clinical Phenotypes? A Clinico-Pathological Perspective.

J Alzheimers Dis 2016 05;53(2):403-17

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.

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http://dx.doi.org/10.3233/JAD-160121DOI Listing
May 2016

DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology.

Brain 2016 06 16;139(Pt 6):1680-7. Epub 2016 Apr 16.

Department of Neurology, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1093/brain/aww080DOI Listing
June 2016

New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

J Hum Genet 2016 Jun 4;61(6):497-505. Epub 2016 Feb 4.

Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2016.2DOI Listing
June 2016

CADASIL: MRI may be normal in the fourth decade of life - a case report.

Cephalalgia 2016 Oct 20;36(11):1082-1085. Epub 2016 Jul 20.

1 Neurology Department, Centro Hospitalar do Porto, Hospital de Santo António, Portugal.

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http://journals.sagepub.com/doi/10.1177/0333102415618613
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http://dx.doi.org/10.1177/0333102415618613DOI Listing
October 2016

Hansen Neuropathy: Still a Possible Diagnosis in the Investigation of a Peripheral Neuropathy.

Acta Med Port 2015 May-Jun;28(3):329-32. Epub 2015 Jun 30.

Unidade de Neuropatologia. Centro Hospitalar do Porto. Porto. Portugal.

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August 2017

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing.

J Hum Genet 2015 Jun 5;60(6):305-12. Epub 2015 Mar 5.

1] Departamento de Microscopia, Laboratório de Biologia Celular, Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [2] Unidade Multidisciplinar de Investigação Biomédica (UMIB), Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, Porto, Portugal [3] Centro de Genética da Reprodução Professor Alberto Barros, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2015.20DOI Listing
June 2015

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS): postmortem findings.

J Neuropathol Exp Neurol 2015 Feb;74(2):186-90

Department of Neurology, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal. Department of Neuroradiology, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal. Department of Neuropathology, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal

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http://jnen.oxfordjournals.org/content/jnen/74/2/186.full.pd
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http://jnen.oxfordjournals.org/lookup/doi/10.1097/NEN.000000
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http://dx.doi.org/10.1097/NEN.0000000000000162DOI Listing
February 2015

CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings.

J Neurol Neurosurg Psychiatry 2015 Feb 4;86(2):159-67. Epub 2014 Aug 4.

Unidade Corino de Andrade, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal Serviço de Neurofisiologia, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1136/jnnp-2014-308107DOI Listing
February 2015

PARK2 presenting as a disabling peripheral axonal neuropathy.

Neurol Sci 2015 Feb 25;36(2):341-3. Epub 2014 Jul 25.

Department of Neurology, Centro Hospitalar do Porto, Hospital de Santo António, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal,

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http://dx.doi.org/10.1007/s10072-014-1898-yDOI Listing
February 2015

Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.

Pediatr Neurol 2014 Aug 28;51(2):275-8. Epub 2014 Apr 28.

Neuromuscular Diseases Unit, Department of Pediatric Neurology, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.024DOI Listing
August 2014

Acute ischemic stroke secondary to glioblastoma. A case report.

Neuroradiol J 2014 Feb 24;27(1):85-90. Epub 2014 Feb 24.

Serviço de Neurorradiologia, Hospital de Santo António - CHP; Porto, Portugal.

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http://journals.sagepub.com/doi/10.15274/NRJ-2014-10009
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202841PMC
http://dx.doi.org/10.15274/NRJ-2014-10009DOI Listing
February 2014

Relapsing-remitting tumefactive demyelination.

JAMA Neurol 2014 Mar;71(3):366-7

Department of Neurology, Centro Hospitalar de Entre o Douro e Vouga, Santa Maria da Feira, Portugal.

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http://dx.doi.org/10.1001/jamaneurol.2013.5DOI Listing
March 2014

Hereditary neuropathy with liability to pressure palsy: a recurrent and bilateral foot drop case report.

Case Rep Pediatr 2013 23;2013:230541. Epub 2013 Oct 23.

Department of Pediatrics, Centro Hospitalar do Alto Ave, Hospital de Guimarães, 4835-044 Guimarães, Portugal ; Department of Pediatrics, Centro Hospitalar de São João, Alameda Prof. Hernâni Monteiro, 4200-319 Porto, Portugal.

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http://www.dnalab.cz/publikace/CMT/HNPP_Paprocka_Folia%20Neu
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http://www.hindawi.com/journals/cripe/2013/230541/
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http://dx.doi.org/10.1155/2013/230541DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819892PMC
November 2013

Multiple cerebral infarcts and intravascular central nervous system lymphoma: a rare but potentially treatable association.

J Neurol Sci 2013 Feb 13;325(1-2):183-5. Epub 2012 Dec 13.

Neurology Department, Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal.

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http://dx.doi.org/10.1016/j.jns.2012.10.012DOI Listing
February 2013

Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.

Eur J Hum Genet 2013 May 12;21(5):540-9. Epub 2012 Sep 12.

Unidade de Investigação e Desenvolvimento, Departamento de Genética, Centro de Genética Médica Dr Jacinto Magalhães, Instituto Nacional de Saúde Dr Ricardo Jorge, IP, Porto, Portugal.

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http://www.nature.com/articles/ejhg2012201
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http://dx.doi.org/10.1038/ejhg.2012.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641378PMC
May 2013

Clinico-pathological correlations of the most common neurodegenerative dementias.

Front Neurol 2012 1;3:68. Epub 2012 May 1.

Neuropathology Unit, Hospital de Santo António, Centro Hospitalar do Porto Porto, Portugal.

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http://journal.frontiersin.org/article/10.3389/fneur.2012.00
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http://dx.doi.org/10.3389/fneur.2012.00068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340570PMC
October 2012

Gliomatosis cerebri diagnostic challenge: two case reports.

Neurologist 2011 Sep;17(5):269-72

Department of Neurology, Hospital Santo António, Porto, Portugal.

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https://insights.ovid.com/crossref?an=00127893-201109000-000
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http://dx.doi.org/10.1097/NRL.0b013e318217363eDOI Listing
September 2011

Acute hemorrhagic leukoencephalitis with severe brainstem and spinal cord involvement: MRI features with neuropathological confirmation.

J Magn Reson Imaging 2011 Apr;33(4):957-61

Neuroradiology Department, Centro Hospitalar do Porto, Porto, Portugal.

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http://doi.wiley.com/10.1002/jmri.22505
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http://dx.doi.org/10.1002/jmri.22505DOI Listing
April 2011