(Q37778764)

23 August 2017

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title

Rare causes of dystonia parkinsonism (English)

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Kailash Phatechand Bhatia

23 August 2017

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series ordinal

2

object named as

Kailash P Bhatia

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23 August 2017

Susanne A Schneider

1

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23 August 2017

publication date

1 November 2010

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Current Neurology and Neuroscience Reports

23 August 2017

published in

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23 August 2017

volume

10

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23 August 2017

issue

6

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23 August 2017

page(s)

431-439

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Olfaction differentiates parkin disease from early-onset parkinsonism and Parkinson disease

23 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0136-0

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0136-0

[123I]FP-CIT SPECT findings in two patients with Hallervorden-Spatz disease with homozygous mutation in PANK2 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0136-0

Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-010-0136-0

Juvenile neuroaxonal dystrophy: Clinical, electrophysiological, and neuropathological features

21 January 2018

1 reference

12 December 2020

Phenomenology of ?Lubag? or X-linked dystonia-parkinsonism

1 reference

12 December 2020

The PINK1/Parkin pathway regulates mitochondrial morphology

1 reference

12 December 2020

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

1 reference

12 December 2020

Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes

1 reference

12 December 2020

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

1 reference

12 December 2020

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

1 reference

12 December 2020

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

1 reference

12 December 2020

Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin

1 reference

12 December 2020

Early and marked benefit with GPi DBS for Lubag syndrome presenting with rapidly progressive life-threatening dystonia

1 reference

12 December 2020

Parkin gene causing benign autosomal recessive juvenile parkinsonism

1 reference

12 December 2020

Rapid-onset dystonia-parkinsonism: a report of clinical, biochemical, and genetic studies in two families

1 reference

12 December 2020

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

1 reference

12 December 2020

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

1 reference

12 December 2020

Screening for dystonia genes DYT1, 11 and 16 in patients with writer's cramp

1 reference

12 December 2020

Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome

1 reference

12 December 2020

Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays

1 reference

12 December 2020

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

1 reference

12 December 2020

Neuropathology of lubag (x-linked dystonia parkinsonism).

1 reference

12 December 2020

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

1 reference

12 December 2020

Neuroferritinopathy in a French family with late onset dominant dystonia

1 reference

12 December 2020

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

1 reference

12 December 2020

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa

1 reference

12 December 2020

[Hallervorden-Spatz disease: findings in the nigrostriatal system]

1 reference

12 December 2020

Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

1 reference

12 December 2020

PINK1 mutations are associated with sporadic early-onset parkinsonism

1 reference

12 December 2020

ATP13A2 missense mutations in juvenile parkinsonism and young onset Parkinson disease

1 reference

12 December 2020

Dopa-responsive dystonia

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12 December 2020

Neuroaxonal dystrophy. A case of delayed onset and protracted course

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12 December 2020

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

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12 December 2020

Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.

1 reference

12 December 2020

How much phenotypic variation can be attributed to parkin genotype?

1 reference

12 December 2020

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

1 reference

12 December 2020

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

1 reference

12 December 2020

Torsion dystonia in Panay, Philippines

1 reference

12 December 2020

The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines

1 reference

12 December 2020

Hallervorden-Spatz syndrome: clinical and magnetic resonance imaging correlations

1 reference

12 December 2020

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients

1 reference

12 December 2020

A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome

1 reference

12 December 2020

The genetics of primary dystonias and related disorders

1 reference

12 December 2020

Paroxysmal exercise-induced dystonia as a presenting feature of young-onset Parkinson's disease

1 reference

12 December 2020

Increased calcium-independent phospholipase A2 activity in first but not in multiepisode chronic schizophrenia.

1 reference

12 December 2020

Iron accumulation in syndromes of neurodegeneration with brain iron accumulation 1 and 2: causative or consequential?

1 reference

12 December 2020

Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene.

1 reference

12 December 2020

PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism

1 reference

12 December 2020

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism

1 reference

12 December 2020

PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies

1 reference

12 December 2020

Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation

1 reference

12 December 2020

The natural history of sex-linked recessive dystonia parkinsonism of Panay, Philippines (XDP).

1 reference

12 December 2020

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Indian-subcontinent NBIA: unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms

1 reference

12 December 2020

Clinical and neuropsychological correlates in two brothers with pantothenate kinase-associated neurodegeneration

1 reference

12 December 2020

Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism

1 reference

12 December 2020

Severe tongue protrusion dystonia: clinical syndromes and possible treatment

1 reference

12 December 2020

Update on the genetics of Parkinson's disease

1 reference

12 December 2020

The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism

1 reference

12 December 2020

Genetics of Parkinson's disease and parkinsonism

1 reference

12 December 2020

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

1 reference

12 December 2020

PLA2G6 mutation underlies infantile neuroaxonal dystrophy

1 reference

12 December 2020

Association between early-onset Parkinson's disease and mutations in the parkin gene

1 reference

12 December 2020

Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.

1 reference

12 December 2020

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

1 reference

12 December 2020

Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.

1 reference

12 December 2020

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

1 reference

12 December 2020

PACT, a protein activator of the interferon-induced protein kinase, PKR.

1 reference

12 December 2020

First case of X-linked dystonia-parkinsonism ("Lubag") to demonstrate a response to bilateral pallidal stimulation

1 reference

12 December 2020

Classification and genetics of dystonia

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12 December 2020

Parkin disease: a phenotypic study of a large case series

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12 December 2020

PINK1 mutations in sporadic early-onset Parkinson's disease

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12 December 2020

Phenotypic and molecular analyses of X-linked dystonia-parkinsonism ("lubag") in women

1 reference

12 December 2020

Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations

1 reference

12 December 2020

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism

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12 December 2020

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

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12 December 2020

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

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12 December 2020

Novel features in a patient homozygous for the L347P mutation in the PINK1 gene

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12 December 2020

Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36

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12 December 2020

The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease

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12 December 2020

Neurodegeneration with brain iron accumulation: from genes to pathogenesis

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12 December 2020

ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation

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12 December 2020

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

1 reference

12 December 2020

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

1 reference

12 December 2020

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

1 reference

12 December 2020

Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

1 reference

12 December 2020

Characterization of PLA2G6 as a locus for dystonia-parkinsonism

1 reference

12 December 2020

A genetic study of two calcium-independent cytosolic PLA2 genes in schizophrenia

1 reference

12 December 2020

10.1007/S11910-010-0136-0

Identifiers

DOI

1 reference

23 August 2017

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