(Q46801611)

25 December 2017

title

Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy (English)

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25 December 2017

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4

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25 December 2017

Sven Haller

6

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25 December 2017

author name string

D T Winkler

1

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25 December 2017

P Lyrer

2

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25 December 2017

A Probst

3

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25 December 2017

T Haufschild

5

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25 December 2017

N Willi

7

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25 December 2017

M J Mihatsch

8

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25 December 2017

A J Steck

9

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25 December 2017

M Tolnay

10

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25 December 2017

publication date

22 January 2008

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25 December 2017

published in

Journal of Neurology

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25 December 2017

volume

255

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25 December 2017

issue

1

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25 December 2017

page(s)

77-88

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25 December 2017

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

Leukoencephalopathy, cerebral calcifications, and cysts: new observations

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

Hereditary infantile hemiparesis, retinal arteriolar tortuosity, and leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00415-008-0675-3

A new autosomal dominant vascular retinopathy syndrome.

21 January 2018

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12 December 2020

A gene for familial hemiplegic migraine maps to chromosome 19

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12 December 2020

Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor. Report of two early-onset cases with Fanconi's anemia-like phenotypes suggesting an autosomal-recessive inheritance pattern.

1 reference

12 December 2020

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

1 reference

12 December 2020

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

1 reference

12 December 2020

Coeliac disease, epilepsy, and cerebral calcifications. The Italian Working Group on Coeliac Disease and Epilepsy

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12 December 2020

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

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12 December 2020

Evidence for systemic manifestations in cerebroretinal vasculopathy

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12 December 2020

Thrombotic Microangiopathies

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12 December 2020

Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia

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12 December 2020

Microangiopathy of the brain and retina

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12 December 2020

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

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12 December 2020

Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1

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12 December 2020

Digestive tract and renal small vessel hyalinosis, idiopathic nonarteriosclerotic intracerebral calcifications, retinal ischemic syndrome, and phenotypic abnormalities. A new familial syndrome

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12 December 2020

Cerebroretinal vasculopathy. A new hereditary syndrome

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12 December 2020

Hereditary retinal vasculopathy with cerebral white matter lesions

1 reference

12 December 2020

Cerebroretinal vasculopathy mimicking a brain tumor

1 reference

12 December 2020

Hereditäre okklusive zerebroretinale Vaskulopathie bei zwei Schwestern12

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12 December 2020

Needle muscle biopsy in the investigation of neuromuscular disorders

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12 December 2020

Single gene disorders causing ischaemic stroke

1 reference

12 December 2020

HERNS. A rare, hereditary, multisystemic disease with cerebral microangiopathy

1 reference

12 December 2020

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

1 reference

12 December 2020

10.1007/S00415-008-0675-3

Identifiers

DOI

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25 December 2017

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25 December 2017