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List of works by Janice Holton

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands

scientific article published on 10 December 2014

A 29-year-old man with difficulty climbing the stairs

scientific article published in September 2014

A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.

scientific article published on 7 September 2015

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

scientific article

A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.

scientific article published on 6 January 2016

A Clinicopathologic Study of Movement Disorders in Frontotemporal Lobar Degeneration

scientific article published on 06 November 2020

A Histologic Study of the Circadian System in Parkinson Disease, Multiple System Atrophy, and Progressive Supranuclear Palsy.

scientific article

A Huntington's disease phenocopy characterized by pallido-nigro-luysian degeneration with brain iron accumulation and p62-positive glial inclusions

scientific article published in October 2010

A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia

scientific article published on 21 November 2019

A case of necrotizing myopathy with proximal weakness and cardiomyopathy

scientific article published on 01 May 2012

A clinico-pathological study of subtypes in Parkinson's disease

scientific article published on 16 September 2009

A common LRRK2 mutation in idiopathic Parkinson's disease

scientific article published on 29 January 2005

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

scientific article

A comprehensive screening of copy number variability in dementia with Lewy bodies

scientific article published on 24 October 2018

A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

scientific article

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series

scientific article published on 29 January 2008

A genome-wide association study in multiple system atrophy

scientific article published on 14 September 2016

A multidisciplinary team approach to skull base chondrosarcomas

scientific article

A multidisciplinary team approach to skull base chordomas

scientific article

A multimodal computational pipeline for 3D histology of the human brain

scientific article published on 14 August 2020

A novel TBK1 mutation in a family with diverse frontotemporal dementia spectrum disorders.

scientific article

A novel frameshift deletion in autosomal recessive SBF1-related syndromic neuropathy with necklace fibres

scientific article published on 22 May 2020

A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis

scientific article

Abundant pyroglutamate-modified ABri and ADan peptides in extracellular and vascular amyloid deposits in familial British and Danish dementias

scientific article published on 20 December 2012

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history

scientific article published in March 2005

Alpha-synuclein mRNA expression in oligodendrocytes in MSA.

scientific article

Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress

scientific article published on July 2006

Amyloidogenesis in familial British dementia is associated with a genetic defect on chromosome 13.

scientific article published in January 2000

An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies

scientific article published on 22 March 2006

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies.

scientific article

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

scientific article

Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies

scientific article published on 29 January 2020

Analysis of the prion protein gene in multiple system atrophy

scientific article published on 03 October 2016

Anatamopathological spectrum of tauopathies ⬇️

scientific article published on September 1, 2003

Association of Autonomic Dysfunction With Disease Progression and Survival in Parkinson Disease.

scientific article

Association of autonomic symptoms with disease progression and survival in progressive supranuclear palsy

scientific article published on 31 December 2018

Astrogliopathy predominates the earliest stage of corticobasal degeneration pathology

scientific article

Atypical periodic paralysis and myalgia: A novel RYR1 phenotype

scientific article published on 3 January 2018

Autophagy in neurodegeneration and aging

scientific article published on 01 November 2018

Brain biopsy in dementia.

scientific article

Brain biopsy in dementia: clinical indications and diagnostic approach.

scientific article

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

scientific article

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies

scientific article published on 11 May 2016

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

scientific article

Calpainopathy with macrophage-rich, regional inflammatory infiltrates.

scientific article published on 27 April 2017

Can olfactory bulb biopsy be justified for the diagnosis of Parkinson's disease? Comments on "olfactory bulb alpha-synucleinopathy has high specificity and sensitivity for Lewy body disorders"

scientific article published on 25 November 2008

Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view

scientific article

Cerebral amyloidosis: amyloid subunits, mutants and phenotypes.

scientific article

Cerebral mitochondrial electron transport chain dysfunction in multiple system atrophy and Parkinson’s disease

scientific article published on 25 April 2019

Characterisation of a novel NR4A2 mutation in Parkinson's disease brain

scientific article

Characteristics of progressive supranuclear palsy presenting with corticobasal syndrome: a cortical variant

scientific article

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

scientific article

Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

scientific article

Clinical and pathological heterogeneity in late-onset partial merosin deficiency

scientific article published in October 2011

Clinical features of congenital myasthenic syndrome due to mutations inDPAGT1 ⬇️

scientific article published on February 27, 2013

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

scientific article published on 4 May 2016

Clinical outcomes of progressive supranuclear palsy and multiple system atrophy

scientific article

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series

scientific article published on 21 October 2016

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

Coenzyme Q10 Levels Are Decreased in the Cerebellum of Multiple-System Atrophy Patients.

scientific article published on 19 February 2016

Cognitive impairment in multiple system atrophy: a position statement by the Neuropsychology Task Force of the MDS Multiple System Atrophy (MODIMSA) study group

scientific article

Complement activation in chromosome 13 dementias. Similarities with Alzheimer's disease

scientific article published on 17 October 2002

Concomitant fragile X-associated tremor ataxia syndrome and Parkinson's disease: a clinicopathological report of two cases

scientific article published on 4 December 2014

Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer

scientific article published on 21 February 2014

Concomitant progressive supranuclear palsy and multiple system atrophy: more than a simple twist of fate?

scientific article published on 14 October 2009

Conventional magnetic resonance imaging in confirmed progressive supranuclear palsy and multiple system atrophy

scientific article published on 04 April 2012

Cortical alpha-synuclein load is associated with amyloid-beta plaque burden in a subset of Parkinson's disease patients

scientific article published on 08 January 2008

Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy

scientific journal article

DYT6 Dystonia: A Neuropathological Study

scientific article published on 27 November 2015

Deep brain stimulation of the subthalamic nucleus: histological verification and 9.4-T MRI correlation

scientific article published on 5 October 2015

Degeneration in different parkinsonian syndromes relates to astrocyte type and astrocyte protein expression

scientific article published in October 2009

Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome

scientific article published on 20 December 2019

Diagnostic implications of histological analysis of neurosurgical aspirate in addition to routine resections ⬇️

scientific article published on June 21, 2011

Difference in MSA phenotype distribution between populations: genetics or environment?

scientific article published on January 2012

Disease-related patterns of in vivo pathology in Corticobasal syndrome

scientific article published on 08 August 2018

Disentangling the relationship between lewy bodies and nigral neuronal loss in Parkinson's disease

scientific article

Distal myopathy with cachexia: an unrecognised phenotype caused by dominantly-inherited mitochondrial polymerase γ mutations

scientific article published on 29 August 2012

Distal myopathy with tubular aggregates: a new phenotype associated with multiple deletions in mitochondrial DNA?

scientific article published on August 2002

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation

scientific article

Does corticobasal degeneration exist? A clinicopathological re-evaluation

scientific article published on July 2010

Does levodopa accelerate the pathologic process in Parkinson disease brain? ⬇️

scientific article published on September 14, 2011

Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.

scientific article published on 28 June 2007

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease

scientific article

Early presentation of urinary retention in multiple system atrophy: can the disease begin in the sacral spinal cord?

scientific article published on 12 November 2019

Effect of Fluorinert on the Histological Properties of Formalin-Fixed Human Brain Tissue

Epigenomics and transcriptomics analyses of multiple system atrophy brain tissue supports a role for inflammatory processes in disease pathogenesis

scientific article published on 14 May 2020

Erratum to "The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism" [Neurobiol. Aging 36 (2015) 1221.e1-1221.e6].

scientific article published on 19 March 2015

Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11

scholarly article published in Nature Genetics

Evaluating the relationship between amyloid-β and α-synuclein phosphorylated at Ser129 in dementia with Lewy bodies and Parkinson's disease

scientific article

Expanding the molecular and phenotypic spectrum of truncating MT-ATP6 mutations

scientific article published on 07 January 2020

Exploring the putative role of kallikrein-6, calpain-1 and cathepsin-D in the proteolytic degradation of α-synuclein in multiple system atrophy

scientific article published on 29 August 2018

Expression of BRI2 mRNA and protein in normal human brain and familial British dementia: its relevance to the pathogenesis of disease

scientific article published on 13 February 2008

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

scientific article

Familial Danish dementia: a novel form of cerebral amyloidosis associated with deposition of both amyloid-Dan and amyloid-beta

scientific article published in March 2002

Familial Danish dementia: co-existence of Danish and Alzheimer amyloid subunits (ADan AND A{beta}) in the absence of compact plaques

scientific article published on 9 August 2005

Foix-Chavany-Marie syndrome due to type E TDP43 pathology

scientific article published on 13 September 2019

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

scientific article

Frontotemporal lobar degeneration and ubiquitin immunohistochemistry

scientific article published on 01 August 2004

Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsy

scientific article published on 30 September 2004

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

scientific article published on 16 January 2020

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

scientific article published on 10 January 2018

Gene expression in Huntington's disease skeletal muscle: a potential biomarker

scientific article published on 11 May 2005

Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre

scientific article published on 19 August 2019

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

scientific article

Genetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathies

scientific article

Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies

scientific article published on 21 July 2011

Globular glial tauopathies (GGT): consensus recommendations

scientific article published on 31 August 2013

Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease ⬇️

scientific article published on 05 May 2011

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

scientific article

Heritability and genetic variance of dementia with Lewy bodies

scientific article published on 03 April 2019

High resolution MR anatomy of the subthalamic nucleus: imaging at 9.4 T with histological validation.

scientific article published on 21 October 2011

Hippocampal α-synuclein pathology correlates with memory impairment in multiple system atrophy

scientific article published on 08 May 2020

Histological evidence of chronic traumatic encephalopathy in a large series of neurodegenerative diseases

scientific article published on 24 October 2015

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

scientific article

How do tissue infiltrating B cells and plasma cells correlate with other inflammatory features in muscle tissue from patients with JDM?

scientific article published on 17 September 2014

Human T cell leukaemia virus type I associated neuromuscular disease causing respiratory failure

scientific article

Hyposmia in progressive supranuclear palsy

scientific article published in April 2010

Hypothalamic α-synuclein and its relation to weight loss and autonomic symptoms in Parkinson's disease.

scientific article published on 28 November 2016

Identification and quantification of oligodendrocyte precursor cells in multiple system atrophy, progressive supranuclear palsy and Parkinson's disease

scientific article published on 23 October 2012

Idiopathic inflammatory myopathy: Interrater variability in muscle biopsy reading

scientific article published on 29 July 2019

Immunohistochemical and Molecular Investigations Show Alteration in the Inflammatory Profile of Multiple System Atrophy Brain.

scientific article published in July 2018

Improving diagnostic accuracy of multiple system atrophy: a clinicopathological study

scientific article published on 01 September 2019

Impulsive-compulsive spectrum behaviors in pathologically confirmed progressive supranuclear palsy

scientific article published in April 2010

International consensus on a proposed score system for muscle biopsy evaluation in patients with juvenile dermatomyositis: a tool for potential use in clinical trials.

scientific article published on October 2007

Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study

scientific article published on 16 December 2017

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing

scientific article published on 23 December 2019

Is it really myositis? A consideration of the differential diagnosis

scientific article

Kearns-Sayre syndrome caused by defective R1/p53R2 assembly

scientific article published on 4 March 2011

Knight's move thinking? Mild cognitive impairment in a chess player.

scientific article published in February 2005

LATE to the PART-y

scientific article published on 01 September 2019

LETTER TO THE EDITOR Atypical Granulomatous Myositis and Pulmonary Sarcoidosis

scientific article

LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions

scientific article published on 21 October 2008

LRRK2 exonic variants and risk of multiple system atrophy

scientific article

LRRK2 expression in idiopathic and G2019S positive Parkinson's disease subjects: a morphological and quantitative study

scientific article

LRRK2 levels and phosphorylation in Parkinson's disease brain and cases with restricted Lewy bodies.

scientific article published on 2 December 2016

Lewy bodies in grafted neurons in subjects with Parkinson's disease suggest host-to-graft disease propagation

scientific article (publication date: May 2008)

Lewy- and Alzheimer-type pathologies in Parkinson's disease dementia: which is more important?

scientific article

Lower nucleus accumbens α-synuclein load and D3 receptor levels in Parkinson's disease with impulsive compulsive behaviours

scientific article published on 01 November 2019

Luminescent conjugated oligothiophenes distinguish between α-synuclein assemblies of Parkinson's disease and multiple system atrophy

scientific article published on 03 December 2019

MHC Class I overexpression on muscles in early juvenile dermatomyositis

scientific article published on 01 March 2004

MM2 subtype of sporadic Creutzfeldt-Jakob disease may underlie the clinical presentation of progressive supranuclear palsy

scientific article

MOBP and HIP1 in multiple system atrophy: new α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis

scientific article published on 23 December 2020

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

MSA-C or SCA 17? A clinicopathological case update

scientific article published in August 2016

Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementia

scientific article

Marked hemiatrophy in carriers of Duchenne muscular dystrophy.

scientific article published in April 2010

Minimal change multiple system atrophy: an aggressive variant?

scientific article published on 8 April 2015

Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired association football (soccer) players

scientific article

Molecular chaperons, amyloid and preamyloid lesions in the BRI2 gene-related dementias: a morphological study

scientific article published in October 2006

Morphometric analyses of normal pediatric brachial biceps and quadriceps muscle tissue.

scientific article published on 08 February 2013

Multiple system atrophy and repeat expansions in C9orf72.

scientific article published in September 2014

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions

scientific article

Multiple system atrophy-parkinsonism with slow progression and prolonged survival: a diagnostic catch

scientific article published on 17 July 2012

Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis

scientific article published on 23 May 2016

Mutational analysis of parkin and PINK1 in multiple system atrophy

scientific article published on 19 January 2010

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

scientific article

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

scientific article

NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach

scientific article published on 01 November 2006

Neurofilament inclusion body disease: a new proteinopathy?

scientific article published on 22 July 2003

Neuronal intranuclear inclusion disease: report on a case originally diagnosed as dopa-responsive dystonia with Lewy bodies

scientific article published on 01 October 2005

Neuropathological Findings in Ephedrone Encephalopathy

scientific article published on 16 June 2020

Neuropathological criteria of anti-IgLON5-related tauopathy

scientific article

Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

scientific article

Neuropathological features of multiple system atrophy with cognitive impairment

scientific article published on 18 April 2014

Neuropathological findings in benign tremulous Parkinsonism ⬇️

scientific article published on December 12, 2012

Neuropathological progression of clinical Parkinson disease subtypes

scientific article published on 01 June 2019

Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy

scientific article published on 30 June 2015

Neuropathology of Circadian Alterations in Parkinson Disease-Reply

scientific article published on 01 January 2019

Neuropathology of primary adult-onset dystonia

scientific article published on 01 February 2008

Neuropathology underlying clinical variability in patients with synucleinopathies

scientific article published on July 2011

No evidence of iatrogenic human transmission in autopsy confirmed multiple system atrophy

scientific article published on 23 March 2018

Normal dopamine transporter single photon-emission CT scan in corticobasal degeneration

scientific article published in December 2008

Novel clinicopathological characteristics differentiate dementia with Lewy bodies from Parkinson's disease dementia

scientific article published on 27 July 2020

Ongoing developments in sporadic inclusion body myositis

scientific article

P3-309

PINK1 protein in normal human brain and Parkinson's disease

scientific article

PYROGLUTAMATE FORMATION AT THE N-TERMINI OF ABRI MOLECULES IN FAMILIAL BRITISH DEMENTIA IS NOT RESTRICTED TO THE CENTRAL NERVOUS SYSTEM ⬇️

scientific article published on July 8, 2010

Pantothenate kinase-associated neurodegeneration is not a synucleinopathy

scientific article published on February 2013

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene

scientific article published on April 2008

Parkin disease: a clinicopathologic entity?

scientific article

Parkinson's disease with Onuf's nucleus involvement mimicking multiple system atrophy

scientific article published on 2 February 2009

Parkinson's disease with Onuf's nucleus involvement mimicking multiple system atrophy

scientific article published on 19 October 2007

Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?

scientific article published on 24 July 2015

Pathological correlates of white matter hyperintensities in a case of progranulin mutation associated frontotemporal dementia

scientific article published on 01 June 2018

Pathological substrate for regional distribution of increased atrophy rates in progressive supranuclear palsy.

scientific article

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

scientific article

Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions

scientific article published in May 2003

Preferential association of serum amyloid P component with fibrillar deposits in familial British and Danish dementias: similarities with Alzheimer's disease

scientific article published on 21 March 2007

Primary progressive aphasia with parkinsonism ⬇️

scientific article published on February 11, 2013

Primum non nocere: a call for balance when reporting on CTE

scientific article published on 12 February 2019

Prognosis and Neuropathologic Correlation of Clinical Subtypes of Parkinson Disease

scientific article published on 01 April 2019

Progressive parkinsonism, oculomotor abnormalities and autonomic dysfunction: clinicopathological case

scientific article published on 14 January 2011

Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.

scientific article

Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates

scientific article published on 01 June 2010

Pure akinesia with gait freezing: a third clinical phenotype of progressive supranuclear palsy

scientific article

Quantification of normal range of inflammatory changes in morphologically normal pediatric muscle

scientific article published on 01 February 2008

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

scientific article published on 08 August 2016

Recommendations of the Global Multiple System Atrophy Research Roadmap Meeting.

scientific article published on 13 December 2017

Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers

scientific article published on 14 December 2017

Regional differences in the severity of Lewy body pathology across the olfactory cortex

scientific article

Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia

scientific article

Relationships between age and late progression of Parkinson's disease: a clinico-pathological study

scientific article published on 5 April 2010

Reply to: Young- onset multiple system atrophy

scientific article published on 01 December 2018

Research in motion: the enigma of Parkinson's disease pathology spread

scientific article published on 04 September 2008

Results of an open label feasibility study of sodium valproate in people with McArdle disease

scientific article published on 16 May 2020

Review: genetics and neuropathology of primary pure dystonia

scientific article published on October 2012

Rhabdomyolysis: a genetic perspective.

scientific article published on 2 May 2015

SNCA variants are associated with increased risk for multiple system atrophy

scientific article

Shunt responsive progressive supranuclear palsy?

scientific article published in April 2007

Signs of Chronic Hypoxia Suggest a Novel Pathophysiological Event in α-Synucleinopathies

scientific article published on 03 September 2020

Silver staining (Campbell-Switzer) of neuronal α-synuclein assemblies induced by multiple system atrophy and Parkinson's disease brain extracts in transgenic mice

scientific article published on 16 September 2019

Skull base chordomas: correlation of tumour doubling time with age, mitosis and Ki67 proliferation index

scientific article

Sodium and chloride channelopathies with myositis: coincidence or connection?

scientific article

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains

scientific article published on 01 August 2018

Somatic copy number variant mutations in alpha-synuclein and genome-wide in brains of synucleinopathy cases

scientific article published in 2022

Sporadic and familial cerebral amyloid angiopathies.

scientific article

Sporadic and familial dementia with ubiquitin-positive tau-negative inclusions: clinical features of one histopathological abnormality underlying frontotemporal lobar degeneration

scientific article

Sporadic inclusion body myositis: an unsolved mystery.

scientific article published on April 2009

Strawberries on the brain--intracranial capillary hemangioma: two case reports and systematic literature review in children and adults

scientific article

Sub-phenotyping of juvenile dermatomyositis: can it assist clinical decisions?

scientific article published on 17 September 2014

TDP-43 pathology in a patient carrying G2019S LRRK2 mutation and a novel p.Q124E MAPT

scientific article

TDP-43 pathology is present in most post-encephalitic parkinsonism brains

scientific article published in August 2014

TDP-43 pathology may occur in the BRI2 gene-related dementias

scientific article published on 22 February 2011

Targeting of the pedunculopontine nucleus by an MRI-guided approach: a cadaver study

scientific article published on 6 April 2011

Targeting protein homeostasis in sporadic inclusion body myositis

scientific article

Tau acts as an independent genetic risk factor in pathologically proven PD.

scientific article published on 4 January 2012

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

scientific article published on 16 May 2012

The aftermath of boxing revisited: identifying chronic traumatic encephalopathy pathology in the original Corsellis boxer series

scientific article published on 30 October 2018

The alpha-synuclein gene in multiple system atrophy

scientific article

The clinical and neuroanatomical phenotype of FUS associated frontotemporal lobar degeneration

scientific article published on 16 July 2010

The effect of drug treatment on neurogenesis in Parkinson's disease

scientific article published on 16 November 2010

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis

scientific article

The fine anatomy of the perivascular compartment in the human brain: relevance to dilated perivascular spaces in cerebral amyloid angiopathy

scientific article published on 27 February 2018

The genetic and clinico-pathological profile of early-onset progressive supranuclear palsy

scientific article published on 12 July 2019

The midbrain to pons ratio: a simple and specific MRI sign of progressive supranuclear palsy

scientific article published on 24 April 2013

The neuropathology, pathophysiology and genetics of multiple system atrophy ⬇️

scientific article published on February 1, 2012

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons

scientific article

The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

scientific article

The phenomenon of disproportionate antecollis in Parkinson's disease and multiple system atrophy

scientific article published on 01 December 2007

The presubiculum is preserved from neurodegenerative changes in Alzheimer's disease

scientific article published on 20 July 2018

The significance of α-synuclein, amyloid-β and tau pathologies in Parkinson's disease progression and related dementia

scientific article

The spectrum of pathological involvement of the striatonigral and olivopontocerebellar systems in multiple system atrophy: clinicopathological correlations

scientific article published on 27 October 2004

Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the disease

scientific article published on 03 June 2020

Transportin1: a marker of FTLD-FUS

scientific article (publication date: November 2011)

Tubular Aggregates and Cylindrical Spirals Have Distinct Immunohistochemical Signatures

scientific article published in December 2016

Tubuloreticular inclusions in juvenile dermatomyositis: a diagnostically useful marker?

scientific article published on 17 September 2014

UCHL-1 gene in multiple system atrophy: a haplotype tagging approach

scientific article published in October 2005

UCHL-1 is not a Parkinson's disease susceptibility gene

scientific article published in April 2006

Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease

scientific article

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

scientific article published on 01 November 2000

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

White matter DNA methylation profiling reveals deregulation of HIP1, LMAN2, MOBP, and other loci in multiple system atrophy

scientific article published on 18 September 2019

Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations

scientific article published on 21 July 2010

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy

scientific article published on 30 December 2013

Young-onset multiple system atrophy: Clinical and pathological features

scientific article published on 01 July 2018

Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1).

scientific article published on 14 February 2015

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

scientific article published on 12 February 2013

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