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List of works by Ricardo Taipa

A case of haemophagocytic syndrome presenting with oculogyric crises

scientific article published on 01 April 2010

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

scientific article published on April 2011

Acute ischemic stroke secondary to glioblastoma. A case report

scientific article

Adult-onset dystonia in Aicardi-Goutières syndrome

scientific article published on 01 April 2010

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

scientific article published on 16 April 2017

Appendectomy may delay Parkinson's disease Onset

scholarly article by Alexandre Mendes et al published 30 July 2015 in Movement Disorders

Brain biopsy in suspected non-neoplastic neurological disease

scientific article published on 23 April 2019

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

scientific article published on 7 December 2015

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

scientific article published on 4 August 2014

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

scientific article published in February 2015

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

scientific article published on 27 January 2017

Clinical, neuropathological, and genetic characteristics of the novel IVS9+1delG GRN mutation in a patient with frontotemporal dementia

scientific article published in January 2012

Clinico-pathological correlations of the most common neurodegenerative dementias.

scientific article published in May 2012

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

scientific article published on 04 November 2019

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

scientific article

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

scientific article published on 11 May 2016

Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery

scientific article published on 15 February 2018

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

scientific article published on 3 October 2017

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

scientific article published on 12 September 2012

Freezing of gait--first motor manifestation in late infantile variant neuronal ceroid lipofuscinosis.

scientific article published on 23 October 2013

Frontotemporal lobar degeneration-TDP with 'multiple system atrophy phenocopy syndrome'.

scientific article

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene

scientific article

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

scientific article published on May 2015

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

scientific article published on 23 October 2013

Immune-mediated necrotizing myopathy associated with antibodies to the signal recognition particle: A rare cause of hyperCKaemia

scientific article published on 06 January 2020

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

scientific article

Inflammatory pathology markers (activated microglia and reactive astrocytes) in early and late onset Alzheimer disease: a post mortem study

scientific article

Kalirin: a novel genetic risk factor for ischemic stroke.

scientific article published on 28 January 2010

Letter: Transient peripheral facial nerve paralysis after local anesthetic procedure.

scientific article

Medulloblastoma and gliomatosis cerebri: rare brain tumors in multiple sclerosis patients.

scientific article

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

scientific article

Morphological correlates of corticosteroid-induced changes in prefrontal cortex-dependent behaviors.

scientific article published in August 2005

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

scientific article published on 13 December 2012

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

scientific article published on 4 February 2016

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

scientific article published on 5 March 2015

Nonprimary Cytomegalovirus Fetal Infection

scientific article published on 22 April 2016

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

scientific article published on 28 March 2013

PARK2 presenting as a disabling peripheral axonal neuropathy

scientific article published on 25 July 2014

Parkinson's disease and multiple system atrophy patient iPSC-derived oligodendrocytes exhibit alpha-synuclein-induced changes in maturation and immune reactive properties

scientific article published on 16 March 2022

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

scientific article

Peripheral neuropathy in systemic vasculitis and other autoimmune diseases - a report of five cases emphasizing the importance of etiologic characterization

scientific article published on 11 September 2020

Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met)

scientific article published on 02 March 2012

Post-mortem assessment in vascular dementia: advances and aspirations

scientific article

Primary antiphospholipid antibody syndrome presenting with encephalopathy, psychosis and seizures ⬇️

scientific article published on July 18, 2011

Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline

scientific article published on 07 January 2019

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

scientific article published on January 2017

Recurrent Focal myositis: a rare inflammatory myopathy

scientific article published in April 2014

Reply

scientific article published on 12 April 2017

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

scientific article published on 28 April 2014

Specific configuration of dendritic degeneration in pyramidal neurons of the medial prefrontal cortex induced by differing corticosteroid regimens

scientific article

Sporadic hemiplegic migraine with normal imaging as the initial manifestation of CADASIL.

scientific article

Streptococcus suis meningitis: first case report from Portugal

scientific article published on 22 April 2008

Structural and molecular correlates of cognitive aging in the rat

scientific article published in Scientific Reports

Supratentorial hemangioblastomas in von Hippel-Lindau wild-type patients - case series and literature review

scientific article published on 2 October 2017

TTC7B emerges as a novel risk factor for ischemic stroke through the convergence of several genome-wide approaches.

scientific article

Task-specific contribution of the human striatum to perceptual-motor skill learning

scientific article published on 5 July 2010

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

scientific article published on 20 November 2017

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

scientific article published on 9 March 2018

[McArdle disease presenting with rhabdomyolisis and acute kidney injury]

scientific article published on 01 July 2013

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