Encephalopathies with intracranial calcification in children: clinical and genetic characterization

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Encephalopathies with intracranial calcification in children: clinical and genetic characterization

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scientific article published on 16 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована в серпні 2018

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Encephalopathies with intracra ...... l and genetic characterization

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Alice Decio

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Angela Garcia-Cazorla

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Barbara Garavaglia

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Belen Perez Duenas

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Celeste Panteghini

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Cerebral Calcification International Study Group

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Isabella Moroni

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Jaume Campistol

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Luisa Chiapparini

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Nardo Nardocci

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P2860

CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia.

Alexander's disease with Rosenthal fibre formation in an adult.

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis.

Susceptibility-weighted angiography of intracranial blood products and calcifications compared to gradient echo sequence

Intracranial calcifications and hemorrhages: characterization with quantitative susceptibility mapping.

Aicardi-Goutieres syndrome.

Case definition and classification of leukodystrophies and leukoencephalopathies.

COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.

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s13023-018-0854-y

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135

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scholarly article

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10.1186/S13023-018-0854-Y

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English

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2018-08-16T00:00:00Z

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1106151493

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30111349

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6094574

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