Lista de obras - Ricardo Taipa - Dominio Público Uruguay

A case of haemophagocytic syndrome presenting with oculogyric crises

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Acute ischemic stroke secondary to glioblastoma. A case report

artículo científico publicado en 2014

Adult-onset dystonia in Aicardi-Goutières syndrome

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

Clinico-pathological correlations of the most common neurodegenerative dementias.

artículo científico publicado en 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2016

Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Kalirin: a novel genetic risk factor for ischemic stroke.

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

Nonprimary Cytomegalovirus Fetal Infection

artículo científico publicado en 2016

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

artículo científico publicado en 2013

PARK2 presenting as a disabling peripheral axonal neuropathy

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met)

artículo científico publicado en 2012

Post-mortem assessment in vascular dementia: advances and aspirations

artículo científico publicado en 2016

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

artículo científico publicado el 18 de julio de 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.

artículo científico publicado en 2017

Recurrent Focal myositis: a rare inflammatory myopathy

artículo científico publicado en 2014

Reply

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

Streptococcus suis meningitis: first case report from Portugal

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

[McArdle disease presenting with rhabdomyolisis and acute kidney injury]

artículo científico publicado en 2013

Lista de obras de Ricardo Taipa

A case of haemophagocytic syndrome presenting with oculogyric crises

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

Acute ischemic stroke secondary to glioblastoma. A case report

Adult-onset dystonia in Aicardi-Goutières syndrome

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

Appendectomy may delay Parkinson's disease Onset

Brain biopsy in suspected non-neoplastic neurological disease

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

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

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

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

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

Clinico-pathological correlations of the most common neurodegenerative dementias.

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

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

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

Evidence of amyloid-β cerebral amyloid angiopathy transmission through neurosurgery

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

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

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

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

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

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

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

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

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

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

Kalirin: a novel genetic risk factor for ischemic stroke.

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

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

Mitochondrial haplogroup H1 is protective for ischemic stroke in Portuguese patients

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

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

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

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

Nonprimary Cytomegalovirus Fetal Infection

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

PARK2 presenting as a disabling peripheral axonal neuropathy

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

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

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

Permanent dysphagia in familial amyloid polyneuropathy (ATTRVal30Met)

Post-mortem assessment in vascular dementia: advances and aspirations

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

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

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

Recurrent Focal myositis: a rare inflammatory myopathy

Reply

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

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

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

Streptococcus suis meningitis: first case report from Portugal

Structural and molecular correlates of cognitive aging in the rat

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

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

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

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

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

[McArdle disease presenting with rhabdomyolisis and acute kidney injury]