Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism-Reference-Cited by-同舟云学术

Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism

Published:2019-04 Issue: Volume:61 Page:207-210
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Manti Filippo,Nardecchia Francesca,Barresi Sabina,Venditti Martina,Pizzi Simone,Hamdan Fadi F.,Blau Nenad,Burlina Alberto,Tartaglia Marco,Leuzzi Vincenzo

Publisher

Elsevier BV

Subject

Neurology (clinical),Geriatrics and Gerontology,Neurology

Reference15 articles.

1. Defects in trafficking bridge Parkinson's disease pathology and genetics;Abeliovich;Nature,2016

2. Forty years of clathrin-coated vesicles;Robinson;Traffic,2015

3. CLTC as a clinically novel gene associated with multiple malformations and developmental delay;DeMari;Am. J. Med. Genet. A.,2016

4. High rate of recurrent de novo mutations in developmental and epileptic encephalopathies;Hamdan;Am. J. Hum. Genet.,2017

5. Treatable neurotransmitter deficiency in mild phenylketonuria;Bonafè;Neurology,2001

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1. CCDC32 stabilizes clathrin-coated pits and drives their invagination;2024-06-26

2. Reply to: Partially Levodopa‐Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant;Movement Disorders Clinical Practice;2024-04-14

3. Partially Levodopa‐Responsive Parkinsonism in a Carrier of a Novel Pathogenic CLTC Variant;Movement Disorders Clinical Practice;2024-04-08

4. A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities;BMC Medical Genomics;2023-12-18

5. Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach;Brain and Development;2023-10