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Mutations in SCN3A cause early infantile epileptic encephalopathy

Annals of neurology, 2018-04, Vol.83 (4), p.703-717

2018

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Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Pediatric neurology, 2017-08, Vol.73, p.101-105

2017

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Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

Canadian journal of neurological sciences, 2021-05, Vol.48 (3), p.433-434

2021

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Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington's Disease in an Octogenarian

Journal of Huntington's disease, 2023-01, Vol.12 (4), p.377-380

2023

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD reports, 2019-07, Vol.48 (1), p.26-35

2019

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Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism

The Pediatric clinics of North America, 2018-04, Vol.65 (2), p.209-230

2018

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A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia

Tremor and other hyperkinetic movements (New York, N.Y.), 2023-08, Vol.13 (1), p.24

2023

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Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.394-402

2012

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Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Molecular genetics and metabolism, 2017-04, Vol.120 (4), p.342-349

2017

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Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.213-222

2017

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Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

Neurocase, 2016-10, Vol.22 (5), p.476-483

2016

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Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Mitochondrion, 2013-11, Vol.13 (6), p.681-687

2013

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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

PloS one, 2015-08, Vol.10 (8), p.e0137370-e0137370

2015

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Inborn Errors of Metabolism with Acidosis

The Pediatric clinics of North America, 2018-04, Vol.65 (2), p.209-230

2018

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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

PloS one, 2015-05, Vol.10 (5), p.e0127045-e0127045

2015

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD reports, 2019-06, Vol.48 (1), p.26-35

2019

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Neurologic Disorders Due to Mitochondrial DNA Mutations

Seminars in pediatric neurology, 2012-12, Vol.19 (4), p.194-202

2012

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Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2021, Vol.48 (3), p.433-434

2021

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A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia

Tremor and other hyperkinetic movements (New York, N.Y.), 2023, Vol.13, p.24-24

2023

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Chapter 12 - Pyruvate Dehydrogenase Complex Deficiency

Mitochondrial Case Studies, 2016, p.93-101

2016

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A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD reports, 2019, Vol.48 (1), p.26-35

2019

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Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita

Journal of pediatric hematology/oncology, 2023-01, Vol.45 (1), p.e128-e130

2023

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Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

Molecular genetics and metabolism, 2015-12, Vol.116 (4), p.252-259

2015

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Mutations in SCN3A cause early infantile epileptic encephalopathy

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington's Disease in an Octogenarian

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: Lack of correlation with genotype

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Inborn Errors of Metabolism with Acidosis

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Neurologic Disorders Due to Mitochondrial DNA Mutations

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia

Chapter 12 - Pyruvate Dehydrogenase Complex Deficiency

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide

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