"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide (Q38110488)

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scientific article published on 29 May 2013

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English	"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide	scientific article published on 29 May 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

"Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

Parkinson's disease

1 reference

based on heuristic

inferred from title

progressive supranuclear palsy

1 reference

based on heuristic

inferred from title

parkinsonian syndrome

1 reference

based on heuristic

inferred from title

Kailash Phatechand Bhatia

3

object named as

Kailash P Bhatia

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

1

object named as

Maria Stamelou

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

2

object named as

Niall P Quinn

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

language of work or name

0 references

publication date

29 May 2013

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

Movement Disorders

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Europe PubMed Central

PubMed publication ID

29 August 2017

28

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

1184-1199

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Europe PubMed Central

PubMed publication ID

29 August 2017

Natural history of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome) and clinical predictors of survival: a clinicopathological study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Second consensus statement on the diagnosis of multiple system atrophy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Does corticobasal degeneration exist? A clinicopathological re-evaluation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Multiple system atrophy: a primary oligodendrogliopathy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinicopathological study of 35 cases of multiple system atrophy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Time course of symptomatic orthostatic hypotension and urinary incontinence in patients with postmortem confirmed parkinsonian syndromes: a clinicopathological study.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Multiple system atrophy: a review of 203 pathologically proven cases

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The natural history of multiple system atrophy: a prospective European cohort study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

C9ORF72 expansion in amyotrophic lateral sclerosis/frontotemporal dementia also causes parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Rational therapeutic approaches to progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Syndromes of neurodegeneration with brain iron accumulation (NBIA): an update on clinical presentations, histological and genetic underpinnings, and treatment considerations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hereditary parkinsonism: Parkinson disease look-alikes--an algorithm for clinicians to "PARK" genes and beyond

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Complicated recessive dystonia parkinsonism syndromes

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Movement disorders in spinocerebellar ataxias.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Improving the diagnostic accuracy in parkinsonism: a three-pronged approach

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinicopathologic analysis of frontotemporal and corticobasal degenerations and PSP.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The diagnosis and course of frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinical features and natural history of progressive supranuclear palsy: a clinical cohort study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinicopathological correlations in corticobasal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Dystonia in corticobasal degeneration: a review of the literature on 404 pathologically proven cases

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

How do patients with parkinsonism present? A clinicopathological study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Criteria for the diagnosis of corticobasal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hypodipsia discriminates progressive supranuclear palsy from other parkinsonian syndromes.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hypokinesia without decrement distinguishes progressive supranuclear palsy from Parkinson's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)?

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Vertical supranuclear gaze palsy with secondary syphilis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Parkinsonism and frontotemporal dementia: the clinical overlap

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Phenotypic signatures of genetic frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

An algorithm for genetic testing of frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hereditary frontotemporal dementia caused by Tau gene mutations.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

TAR DNA-binding protein 43 in neurodegenerative disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Chromosome 17 in FTLD: from MAPT tau to progranulin and back

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Pattern of behavioral disturbances in corticobasal degeneration syndrome and progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Frontal presentation in progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Behavior and cognition in corticobasal degeneration and progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

In vivo demonstration of microstructural brain pathology in progressive supranuclear palsy: a DTI study using TBSS.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Magnetic resonance imaging in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

C9orf72 repeat expansions in patients with ALS and FTD.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Characterization of DCTN1 genetic variability in neurodegeneration.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Elucidating the genetics and pathology of Perry syndrome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Autonomic failures in Perry syndrome with DCTN1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hereditary Mental Depression and Parkinsonism With Taurine Deficiency

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Dominantly inherited apathy, central hypoventilation, and Parkinson's syndrome: clinical, biochemical, and neuropathologic studies of 2 new cases.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial fatal parkinsonism with alveolar hypoventilation and mental depression

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Neurodegeneration involving putative respiratory neurons in Perry syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial parkinsonism with depression: a clinicopathological study

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

DCTN1 mutations in Perry syndrome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinical spectrum of Kufor-Rakeb syndrome in the Chilean kindred with ATP13A2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Syndromes of neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Eye movement disorders in ATP13A2 mutation carriers (PARK9).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

ATP13A2 variants in early-onset Parkinson's disease patients and controls

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Pathogenic effects of novel mutations in the P-type ATPase ATP13A2 (PARK9) causing Kufor-Rakeb syndrome, a form of early-onset parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Brain iron deposition fingerprints in Parkinson's disease and progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Recommendations on the diagnosis and management of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The natural history of Niemann-Pick disease type C in the UK.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Development of a suspicion index to aid diagnosis of Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Pontine-to-midbrain ratio indexes ocular-motor function and illness stage in adult Niemann-Pick disease type C.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Neuropathology provides clues to the pathophysiology of Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Recommendations on diagnosis, treatment, and monitoring for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Adult-onset neuronopathic form of Gaucher's disease: a case report.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The saccadic and neurological deficits in type 3 Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Visual signs and symptoms of progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Parkinsonism among Gaucher disease carriers

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Hyposmia and cognitive impairment in Gaucher disease patients and carriers

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

POLG1-related and other "mitochondrial Parkinsonisms": an overview.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Novel prion protein gene mutation presenting with subacute PSP-like syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Magnetic resonance imaging in E200K and V210I mutations of the prion protein gene.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Symmetrical corticobasal syndrome caused by a novel C.314dup progranulin mutation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Prominent phenotypic variability associated with mutations in Progranulin

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Corticobasal syndrome associated with a novel 1048_1049insG progranulin mutation.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Corticobasal syndrome associated with the A9D Progranulin mutation

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Mutations in progranulin gene: clinical, pathological, and ribonucleic acid expression findings.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Focal cortical presentations of Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Alzheimer's disease presenting as corticobasal syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Pathological heterogeneity of clinically diagnosed corticobasal degeneration

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The corticobasal syndrome-Alzheimer's disease conundrum

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Anatomical differences between CBS-corticobasal degeneration and CBS-Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Links between frontotemporal lobar degeneration, corticobasal degeneration, progressive supranuclear palsy, and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Saccade abnormalities in autopsy-confirmed frontotemporal lobar degeneration and Alzheimer disease

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

PET analysis of a case of cerebrotendinous xanthomatosis presenting hemiparkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Atypical parkinsonism and cerebrotendinous xanthomatosis: report of a family with corticobasal syndrome and a literature review

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Ocular and systemic manifestations of cerebrotendinous xanthomatosis.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Enzyme-replacement therapy for metabolic storage disorders

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Fragile X-associated tremor/ataxia syndrome and movements disorders

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

FXTAS: new insights and the need for revised diagnostic criteria.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: data from the EMSA Study Group

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Pontine MRI hyperintensities ("the cross sign") are not pathognomonic for multiple system atrophy (MSA).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Evidence for pre and postsynaptic nigrostriatal dysfunction in the fragile X tremor-ataxia syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

"Hot cross bun" sign in a patient with parkinsonism secondary to presumed vasculitis

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

"Hot cross bun" sign in HIV-related progressive multifocal leukoencephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

"Hot cross bun" sign in variant Creutzfeldt-Jakob disease.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Dopamine transporter imaging study in parkinsonism occurring in fragile X premutation carriers

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

MRI and SPECT of midbrain and striatal degeneration in fragile X-associated tremor/ataxia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

SCA3: neurological features, pathogenesis and animal models

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Spinocerebellar ataxia type 17 mutation as a causative and susceptibility gene in parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Altered heart rate control in response to postural change in patients with Machado-Joseph disease (SCA3).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Reduced striatal [123 I]FP-CIT binding in SCA2 patients without parkinsonism

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The wide clinical spectrum and nigrostriatal dopaminergic damage in spinocerebellar ataxia type 6.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

The aetiology of sporadic adult-onset ataxia

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6).

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

SCA6 presenting with young-onset parkinsonism without ataxia.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Presentation, diagnosis, and management of multiple system atrophy in Europe: final analysis of the European multiple system atrophy registry

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Corticobasal degeneration: neuropathologic and clinical heterogeneity.

1 reference

https://api.crossref.org/works/10.1002%2FMDS.25509

21 January 2018

Identifiers

10.1002/MDS.25509

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 August 2017

ResearchGate publication ID

0 references

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