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

Human mutation, 2018-10, Vol.39 (10), p.1314-1337

2018

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

Movement disorders, 2020-11, Vol.35 (11), p.2124-2126

2020

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

Muscle & nerve, 2017-11, Vol.56 (5), p.868-872

2017

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

Journal of human genetics, 2015-06, Vol.60 (6), p.305-312

2015

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Intellectual disability genomics: current state, pitfalls and future challenges

BMC genomics, 2021-12, Vol.22 (1), p.909-909, Article 909

2021

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Neuropathology of central nervous system involvement in TTR amyloidosis

Acta neuropathologica, 2023-01, Vol.145 (1), p.113-126

2023

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

Journal of human genetics, 2016-06, Vol.61 (6), p.497-505

2016

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

Clinical case reports, 2020-12, Vol.8 (12), p.2476-2482

2020

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Ryanodine Myopathies Without Central Cores—Clinical, Histopathologic, and Genetic Description of Three Cases

Pediatric neurology, 2014-08, Vol.51 (2), p.275-278

2014

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Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations

Movement disorders clinical practice (Hoboken, N.J.), 2018-11, Vol.5 (6), p.645-648

2018

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

Neurological sciences, 2021-07, Vol.42 (7), p.2955-2959

2021

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

Journal of Alzheimer's disease, 2016-05, Vol.53 (2), p.403

2016

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Brain biopsy in suspected non-neoplastic neurological disease

Acta neurochirurgica, 2019-06, Vol.161 (6), p.1139-1147

2019

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

Genes, 2017-10, Vol.8 (10), p.253

2017

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

Neuro-degenerative diseases, 2017-01, Vol.17 (4-5), p.145-154

2017

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A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis

Molecular oncology, 2020-06, Vol.14 (6), p.1224-1241

2020

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

Journal of magnetic resonance imaging, 2011-04, Vol.33 (4), p.957-961

2011

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

Frontiers in genetics, 2020-09, Vol.11

2020

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

Amyloid, 2017-04, Vol.24 (2), p.73-77

2017

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

Cephalalgia, 2016-10, Vol.36 (11), p.1082-1085

2016

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

European journal of human genetics : EJHG, 2013-05, Vol.21 (5), p.540-549

2013

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Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

The New England journal of medicine, 2017-10, Vol.377 (17), p.1648-1656

2017

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

Journal of neuromuscular diseases, 2017, Vol.4 (1), p.67-76

2017

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Impact of EGFR Genetic Variants on Glioma Risk and Patient Outcome

Cancer epidemiology, biomarkers & prevention, 2011-12, Vol.20 (12), p.2610-2617

2011

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

Movement disorders clinical practice (Hoboken, N.J.), 2017-11, Vol.4 (6), p.819-823

2017

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

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

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

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

Intellectual disability genomics: current state, pitfalls and future challenges

Neuropathology of central nervous system involvement in TTR amyloidosis

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

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

Ryanodine Myopathies Without Central Cores—Clinical, Histopathologic, and Genetic Description of Three Cases

Late‐onset Levodopa Responsive Parkinsonism Due to Polymerase γ 1 Mutations

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

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

Brain biopsy in suspected non-neoplastic neurological disease

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

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

A novel molecular link between HOXA9 and WNT6 in glioblastoma identifies a subgroup of patients with particular poor prognosis

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

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

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

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

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

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

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

Impact of EGFR Genetic Variants on Glioma Risk and Patient Outcome

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

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