NCL Disorders: Frequent Causes of Childhood Dementia.

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Approach to neurometabolic diseases from a pediatric neurological point of view.The paediatric rheumatologist and orphan disease - a story without happy ending.

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NCL Disorders: Frequent Causes of Childhood Dementia.

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NCL Disorders: Frequent Causes of Childhood Dementia.

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NCL Disorders: Frequent Causes of Childhood Dementia.

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NCL Disorders: Frequent Causes of Childhood Dementia.

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P1476

NCL Disorders: Frequent Causes of Childhood Dementia.

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Angela Schulz

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P2860

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

The neuronal ceroid-lipofuscinoses: from past to present.

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

Kufs' disease: a critical reappraisal.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.

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scholarly article

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Alfried Kohlschütter

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2013-01-01T00:00:00Z

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24665282

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3943077

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NCL Disorders: Frequent Causes of Childhood Dementia.

about

P2860

P2860

NCL Disorders: Frequent Causes of Childhood Dementia.

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P1476

P2093

P2860

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