(Q36728591)

15 August 2017

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title

Neurological manifestations in Fabry's disease (English)

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15 August 2017

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Troels Staehelin Jensen

series ordinal

2

object named as

Troels S Jensen

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15 August 2017

Anette T Møller

1

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15 August 2017

publication date

1 February 2007

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Nature Clinical Practice Neurology

15 August 2017

published in

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15 August 2017

volume

3

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15 August 2017

issue

2

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15 August 2017

page(s)

95-106

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Involvement of peripheral nerve and muscle in Fabry's disease. Histologic, ultrastructural, and morphometric studies

15 August 2017

cites work

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Enzyme replacement therapy improves function of C-, Adelta-, and Abeta-nerve fibers in Fabry neuropathy

21 January 2018

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Quantitative analysis of cerebral vasculopathy in patients with Fabry disease

21 January 2018

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Enhanced endothelium-dependent vasodilation in Fabry disease

21 January 2018

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Carbamazepine in Fabry's disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction

21 January 2018

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Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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7 January 2021

High incidence of later-onset fabry disease revealed by newborn screening

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7 January 2021

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

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7 January 2021

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

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7 January 2021

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

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7 January 2021

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

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7 January 2021

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

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7 January 2021

Fabry disease: Significance of ultrastructural localization of lipid inclusions in dermal nerves

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7 January 2021

Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease

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7 January 2021

Nerve biopsy findings in hemizygous and heterozygous patients with Fabry's disease.

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7 January 2021

Pathological study of the sural nerve in Fabry's disease

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7 January 2021

Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation

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7 January 2021

Neuropathological and biochemical studies in Fabry's disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Fabry disease: immunocytochemical characterization of neuronal involvement

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Involvement of dorsal root ganglia in Fabry's disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Neuropathy and Fabry's disease

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Clinical features of Fabry's disease in Australian patients

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https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Neurological manifestation of Fabry disease in females

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Enzyme replacement therapy in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Treatment of neutral glycosphingolipid lysosomal storage diseases via inhibition of the ABC drug transporter, MDR1. Cyclosporin A can lower serum and liver globotriaosyl ceramide levels in the Fabry mouse model

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Cerebrovascular complications of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Magnetic resonance imaging changes in Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Selective arterial distribution of cerebral hyperperfusion in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

White matter lesion severity in male and female patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Pattern of microstructural brain tissue alterations in Fabry disease: a diffusion-tensor imaging study

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

CNS pathology and vascular/circulatory abnormalities in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Diffuse structural and metabolic brain changes in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Regional cerebral hyperperfusion and nitric oxide pathway dysregulation in Fabry disease: reversal by enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

CNS manifestations of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Central pain: clinical and physiological characteristics

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Pathobiology of neuropathic pain

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Mechanisms of Disease: neuropathic pain—a clinical perspective

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Mechanisms of disease: mechanism-based classification of neuropathic pain-a critical analysis

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Neuronal plasticity: increasing the gain in pain

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Natural history of Fabry disease in females in the Fabry Outcome Survey.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Small fiber dysfunction predominates in Fabry neuropathy.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Physiological characterization of neuropathy in Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Small-fibre neuropathy in female Fabry patients: reduced allodynia and skin blood flow after topical capsaicin

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Use of gabapentin to reduce chronic neuropathic pain in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Enzyme replacement therapy and intraepidermal innervation density in Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The role of neuroinflammation in neuropathic pain: mechanisms and therapeutic targets

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Translation of symptoms and signs into mechanisms in neuropathic pain

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The clinical picture of neuropathic pain.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Dorsal root ganglion neurons show increased expression of the calcium channel alpha2delta-1 subunit following partial sciatic nerve injury.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Injury type-specific calcium channel alpha 2 delta-1 subunit up-regulation in rat neuropathic pain models correlates with antiallodynic effects of gabapentin.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Voltage-gated sodium channels and pain pathways

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Structural and functional changes in peripheral vasculature of Fabry patients

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Non-invasive evaluation of arterial involvement in patients affected with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Carotid intima-media wall thickness in elderly women with and without atherosclerosis of the abdominal aorta

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Increased carotid intima-media thickness in the absence of atherosclerotic plaques in an adult population with Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Alpha-galactosidase A deficiency accelerates atherosclerosis in mice with apolipoprotein E deficiency

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Relative hypoxia of the extremities in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Endothelial markers and homocysteine in patients with classic Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Sensory neuropathy and signs of central sensitization in patients with peripheral arterial disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Experimental tissue acidosis leads to increased pain in complex regional pain syndrome (CRPS)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Vulnerability of nerve fibres to ischaemia. A quantitative light and electron microscope study

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Protons: small stimulants of capsaicin-sensitive sensory nerves

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Permanent occlusion of the middle cerebral artery upregulates expression of cytokines and neuronal nitric oxide synthase in the spinal cord and urinary bladder in the adult rat.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Recent findings on how proinflammatory cytokines cause pain: peripheral mechanisms in inflammatory and neuropathic hyperalgesia.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Peripheral inflammation selectively increases TRPV1 function in IB4-positive sensory neurons from adult mouse

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Anterograde transport of tumor necrosis factor-alpha in the intact and injured rat sciatic nerve

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Peripheral hemodynamics in patients with Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

X-chromosome inactivation and human genetic disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Familial skewed X inactivation and X-linked mutations: unbalanced X inactivation is a powerful means to ascertain X-linked genes that affect cell proliferation

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Skewed X inactivation in X-linked disorders

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

X Inactivation in Females with X-Linked Disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Blood group does not correlate with disease severity in patients with Fabry disease (alpha-galactosidase A deficiency)

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Clinical presentation in female patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Natural history of Fabry disease in affected males and obligate carrier females

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Quantitative analysis of epidermal innervation in Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FNCPNEURO0407

7 January 2021

Identifiers

DOI

10.1038/NCPNEURO0407

1 reference

15 August 2017

1 reference