Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle (Q57175515)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

title

Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

author name string

Àngels García-Cazorla

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

Elisenda Cortès-Saladelafont

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

language of work or name

English

0 references

publication date

18 July 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

12 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

page(s)

1131-1145

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

12 April 2020

cites work

1 reference

12 December 2020

ATM binds to beta-adaptin in cytoplasmic vesicles

1 reference

12 December 2020

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases

1 reference

12 December 2020

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

1 reference

12 December 2020

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

1 reference

12 December 2020

HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY

1 reference

12 December 2020

Chronic axonal neuropathy with triosephosphate isomerase deficiency

1 reference

12 December 2020

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy

1 reference

12 December 2020

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

1 reference

12 December 2020

Absence of previously reported variants in theSCNA (G88C and G209A),NR4A2 (T291D and T245G) and theDJ-1 (T497C) genes in familial Parkinson's disease from theGenePD study

1 reference

12 December 2020

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

1 reference

12 December 2020

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

1 reference

12 December 2020

Molecular anatomy of a trafficking organelle

1 reference

12 December 2020

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

1 reference

12 December 2020

Regulation of membrane fusion in synaptic excitation-secretion coupling: speed and accuracy matter

1 reference

12 December 2020

Identification of a vesicular aspartate transporter

1 reference

12 December 2020

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

1 reference

12 December 2020

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

1 reference

12 December 2020

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

1 reference

12 December 2020

SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

1 reference

12 December 2020

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

1 reference

12 December 2020

CEDNIK syndrome results from loss-of-function mutations in SNAP29.

1 reference

12 December 2020

Rare structural variation of synapse and neurotransmission genes in autism

1 reference

12 December 2020

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

1 reference

12 December 2020

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

1 reference

12 December 2020

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

1 reference

12 December 2020

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature

1 reference

12 December 2020

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation

1 reference

12 December 2020

Genetic variants in sporadic Parkinson's disease: East vs West

1 reference

12 December 2020

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome.

1 reference

12 December 2020

Brain dopamine-serotonin vesicular transport disease and its treatment

1 reference

12 December 2020

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

1 reference

12 December 2020

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

1 reference

12 December 2020

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

1 reference

12 December 2020

Pre-synaptic release deficits in a DYT1 dystonia mouse model.

1 reference

12 December 2020

Dynamin-2 in nervous system disorders.

1 reference

12 December 2020

Neurotransmitter release: the last millisecond in the life of a synaptic vesicle

1 reference

12 December 2020

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency

1 reference

12 December 2020

DNAJC13 mutations in Parkinson disease

1 reference

12 December 2020

De novo mutations in schizophrenia implicate synaptic networks

1 reference

12 December 2020

Parkinsonism may be part of the symptom complex of DOOR syndrome

1 reference

12 December 2020

Synaptic vesicle recycling: steps and principles

1 reference

12 December 2020

LRRK2 kinase activity regulates synaptic vesicle trafficking and neurotransmitter release through modulation of LRRK2 macro-molecular complex

1 reference

12 December 2020

Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability

1 reference

12 December 2020

Somatic mutations in cerebral cortical malformations

1 reference

12 December 2020

Synaptotagmin 2 mutations cause an autosomal-dominant form of lambert-eaton myasthenic syndrome and nonprogressive motor neuropathy

1 reference

12 December 2020

Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic trafficking

1 reference

12 December 2020

Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins

1 reference

12 December 2020

KIF1A mutation in a patient with progressive neurodegeneration

1 reference

12 December 2020

Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms

1 reference

12 December 2020

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

1 reference

12 December 2020

Synaptic, transcriptional and chromatin genes disrupted in autism

1 reference

12 December 2020

Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability

1 reference

12 December 2020

Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration

1 reference

12 December 2020

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

1 reference

12 December 2020

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome

1 reference

12 December 2020

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy

1 reference

12 December 2020

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

1 reference

12 December 2020

Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation

1 reference

12 December 2020

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

1 reference

12 December 2020

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

1 reference

12 December 2020

NAPB - a novel SNARE-associated protein for early-onset epileptic encephalopathy

1 reference

12 December 2020

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly

1 reference

12 December 2020

A splice site mutation in ATP6AP2 causes X-linked intellectual disability, epilepsy, and parkinsonism

1 reference

12 December 2020

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

1 reference

12 December 2020

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

1 reference

12 December 2020

The evolving spectrum of PRRT2-associated paroxysmal diseases

1 reference

12 December 2020

The clinical and genetic heterogeneity of paroxysmal dyskinesias

1 reference

12 December 2020

De novo DNM1 mutations in two cases of epileptic encephalopathy

1 reference

12 December 2020

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

1 reference

12 December 2020

Modes and mechanisms of synaptic vesicle recycling

1 reference

12 December 2020

Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics

1 reference

12 December 2020

Phenotypic insights into ADCY5-associated disease.

1 reference

12 December 2020

The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.

1 reference

12 December 2020

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.

1 reference

12 December 2020

Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder

1 reference

12 December 2020

Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission.

1 reference

12 December 2020

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

1 reference

12 December 2020

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders

1 reference

12 December 2020

DNAJC12 and dopa-responsive nonprogressive parkinsonism

1 reference

12 December 2020

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

1 reference

12 December 2020

Lipids and synaptic functions

1 reference

12 December 2020

Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

1 reference

12 December 2020

Synaptic metabolism: a new approach to inborn errors of neurotransmission

1 reference

12 December 2020

10.1007/S10545-018-0230-Z

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json

12 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30022305%20AND%20SRC:MED&resulttype=core&format=json