Yuan Mang

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 18 publications

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: January 16, 2023

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Rare Pathogenic Variants in Genes Implicated in Glutamatergic Neurotransmission Pathway Segregate with Schizophrenia in Pakistani Families.

Journal: Genes

Published: September 23, 2021

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 05, 2020

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

Journal: Nature communications

Published: June 04, 2019

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes.

Journal: American journal of human genetics

Published: February 02, 2018

Genome-Wide Comparison of Next-Generation Sequencing and qPCR Platforms for microRNA Profiling in Serum.

Genome-Wide Comparison of Next-Generation Sequencing and qPCR Platforms for microRNA Profiling in Serum.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: April 26, 2017

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family.

Journal: European journal of medical genetics

Published: March 30, 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Journal: Neurology

Published: May 12, 2016

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family.

Journal: Journal of human genetics

Published: December 15, 2015

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Phenotypic subregions within the split-hand/foot malformation 1 locus.

Journal: Human genetics

Published: August 31, 2015

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

Journal: Annals of neurology

Published: July 03, 2015

The phenotypic spectrum of SCN8A encephalopathy.

The phenotypic spectrum of SCN8A encephalopathy.

Journal: Neurology

Published: January 09, 2015

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Last Updated: 09/26/2026