S. Debrosse

发表

Alexandria Haseley, Kimberly Wallis, S. Debrosse, 2020, Disability and health journal.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects

D. Kerr, S. Parikh, D. Bartholomew, 2020, JIMD reports.

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

F. Eichler, K. Wierenga, R. Battini, 2015, Molecular genetics and metabolism.

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

D. Kerr, D. Harris, C. Hoppel, 2017, Molecular genetics and metabolism.

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

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

FHF1 (FGF12) epileptic encephalopathy

J. Rosenfeld, Yaping Yang, F. Xia, 2016, Neurology: Genetics.

Neurologic disorders due to mitochondrial DNA mutations.

S. Parikh, S. Debrosse, 2012, Seminars in pediatric neurology.

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

D. Kerr, Ghunwa Nakouzi, C. Schmotzer, 2012, Molecular genetics and metabolism.

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

K. Swoboda, G. Acsadi, K. Silver, 2017, Pediatric neurology.

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

Xiongwei Zhu, Mark L. Cohen, A. Lerner, 2016, Neurocase.

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

S. McCandless, S. Debrosse, Lori-Anne P Schillaci, 2018, Pediatric clinics of North America.

Canavan's Disease

S. Debrosse, N. Bass, 2014 .

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

S. Mane, I. So, Hee-Jung Choi, 2017, Annals of neurology.

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

A. Mitchell, S. Debrosse, M. Merrill, 2022, Journal of pediatric hematology/oncology.

The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia

M. Rosenfeld, M. Knowles, M. Zariwala, 2019, Molecular genetics & genomic medicine.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects

D. Schneidman-Duhovny, S. Dunwoodie, N. Pachter, 2017, Human molecular genetics.

Pyruvate Dehydrogenase Complex Deficiencies

D. Kerr, S. Debrosse, 2013 .

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PLoS ONE.

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

Jared C. Roach, Gustavo Glusman, Fengfeng Zhou, 2015, PloS one.

Mutations in SCN3A cause early infantile epileptic encephalopathy

Ethan M. Goldberg, Borut Peterlin, Livija Medne, 2018, Annals of neurology.

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

D. Kerr, A. Bergin, C. Hoppel, 2019, JIMD reports.

Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders

Frederick Andermann, Masayuki Sasaki, Allison Brashear, 2017, Neurology: Genetics.

Alpers' Disease (Progressive Infantile Poliodystrophy)

S. Debrosse, 2014 .

Pyruvate Dehydrogenase Complex Deficiency

D. Kerr, S. Debrosse, 2016 .

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

S. Ferdinandusse, R. Wanders, D. Kerr, 2017, Molecular genetics and metabolism.

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

S. Gunzler, S. Debrosse, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome

K. Retterer, J. Juusola, M. Cho, 2017, Clinical genetics.

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

Matthew T. Sweney, J. Roach, D. Galas, 2015, PloS one.

Dynamic properties of eye movements in mitochondrial chronic progressive external ophthalmoplegia

R. Leigh, S. Yaniglos, S. Debrosse, 2009, Eye.

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

Marni J. Falk, J. Ganesh, M. Tarnopolsky, 2014, Mitochondrion.

Mitochondrial Disorders: Metabolic and Genetic Basis

D. Kerr, C. Hoppel, S. Debrosse, 2014 .