Saadet Mahmutoglu-Mercimek

Toronto, ON M5G1X8, Canada

Last Updated: 09/26/2026

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Found 42 publications

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Journal: American journal of human genetics

Published: June 27, 2017

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.

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

Published: March 26, 2017

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

Journal: Pediatric neurology

Published: January 20, 2017

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

Journal: American journal of medical genetics. Part A

Published: December 15, 2016

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Journal: Molecular genetics and metabolism

Published: November 11, 2016

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: October 25, 2016

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

Journal: American journal of medical genetics. Part A

Published: September 02, 2016

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Journal: Metabolic brain disease

Published: September 02, 2016

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

Reply letter to Jinnah "Locus pocus" and Albanese "Complex dystonia is not a category in the new 2013 consensus classification": Necessary evolution, no magic!

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

Published: July 24, 2016

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Journal: Human mutation

Published: March 13, 2016

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Journal: American journal of medical genetics. Part A

Published: March 11, 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Journal: American journal of human genetics

Published: February 23, 2016

Showing 1-12 of 42

Last Updated: 09/26/2026