Manuel Pires-Melo

Porto, 4099001, Portugal

Last Updated: 09/26/2026

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Found 32 publications

Neuropathology of central nervous system involvement in TTR amyloidosis.

Neuropathology of central nervous system involvement in TTR amyloidosis.

Journal: Acta neuropathologica

Published: August 10, 2022

Intellectual disability genomics: current state, pitfalls and future challenges.

Intellectual disability genomics: current state, pitfalls and future challenges.

Journal: BMC genomics

Published: June 15, 2021

Letter to the Editor on "Copathology in Progressive Supranuclear Palsy: Does It Matter?"

Letter to the Editor on "Copathology in Progressive Supranuclear Palsy: Does It Matter?"

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: August 07, 2020

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Journal: Frontiers in genetics

Published: June 16, 2020

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Adult polyglucosan body disease-an atypical compound heterozygous with a novel GBE1 mutation.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: May 23, 2020

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Journal: Clinical case reports

Published: February 14, 2020

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

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

Journal: Brain communications

Published: June 21, 2019

When Decrease Aβ1-42 in CSF May Not Mean Alzheimer's Disease: Insights From Two Case Reports With Early Onset Dementia.

When Decrease Aβ1-42 in CSF May Not Mean Alzheimer's Disease: Insights From Two Case Reports With Early Onset Dementia.

Journal: Alzheimer disease and associated disorders

Published: March 13, 2018

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Journal: Human mutation

Published: March 03, 2018

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

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

Journal: Movement disorders clinical practice

Published: February 26, 2018

The etiology of spontaneous intracerebralhemorrhage: Insights from a neuropathological series.

The etiology of spontaneous intracerebralhemorrhage: Insights from a neuropathological series.

Journal: Clinical neuropathology

Published: November 21, 2017

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

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

Journal: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Published: April 18, 2017

Showing 1-12 of 32

Last Updated: 09/26/2026