Suzanne DeBrosse

Suzanne DeBrosse

UNVERIFIED PROFILE

Are you Suzanne DeBrosse?   Register this Author

Register author
Suzanne DeBrosse

Suzanne DeBrosse

Publications by authors named "Suzanne DeBrosse"

Are you Suzanne DeBrosse?   Register this Author

18Publications

1103Reads

30Profile Views

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

Mol Genet Genomic Med 2019 Sep 1;7(9):e911. Epub 2019 Aug 1.

Department of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina, Chapel Hill, North Carolina.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732318PMC
September 2019

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

JIMD Rep 2019 Jul 17;48(1):26-35. Epub 2019 Jun 17.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jmd2.12054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606986PMC
July 2019

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

Pediatr Clin North Am 2018 04 28;65(2):209-230. Epub 2017 Dec 28.

Department of Genetics and Genome Sciences, Case Western Reserve University, Center for Human Genetics, University Hospitals Cleveland Medical Center, 11100 Euclid Avenue, Suite 1500 Lakeside Building, Cleveland, OH 44106, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pcl.2017.11.003DOI Listing
April 2018

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

Pediatr Neurol 2017 Aug 29;73:101-105. Epub 2017 Apr 29.

Pediatric Neurology, Connecticut Children's Medical Center, University of Connecticut, Hartford, Connecticut.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2017.04.022DOI Listing
August 2017

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

Mol Genet Metab 2017 04 2;120(4):342-349. Epub 2017 Feb 2.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382105PMC
April 2017

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

Neurol Genet 2017 Apr 2;3(2):e139. Epub 2017 Mar 2.

Department of Pediatrics and Pediatric Neurology (H.R.), Georg August University, Göttingen, Germany; Division of Clinical Genetics (L.V.), Department of Pediatrics (T.N., M.T.S.) and Department of Neurology (M.T.S.), University of Utah, Salt Lake City; Center for Human Genetics (S.D.), University Hospitals and Case Western Reserve University, Cleveland, OH; Division of Pediatric Neurology (K.E.), Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN; Center for Human Genetics Research (L.O., M.M., K. Swoboda), Department of Neurology, Massachusetts General Hospital, Boston; Neurogenetics Unit (E.A.) and Epilepsy Research Group (E.A., F.A.), Montreal Neurological Hospital and Institute; Department of Neurology and Neurosurgery (E.A., F.A.), Department of Human Genetics (E.A.), and Department of Pediatrics (F.A.), McGill University, Quebec, Canada; Alternating Hemiplegia of Childhood Foundation (G.A., S.C., L.E., V.P.), Southfield, MI; BCBA (A. Belgrade), Belgrade Behavior Consulting, Chicago, IL; Department of Neurology (A. Brashear), Wake Forest School of Medicine, Winston-Salem, NC; Department of Pharmacology (A.L.G.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Pediatrics (A.L.), University of Florida College of Medicine, Jacksonville; Integrative Neuropsychology (J.M.), Fairlawn, OH; Association Française de l'Hémiplégie Alternante (D.P.), Paris, France; Rare Disease Innovation Unit (S.R.), Clinical Development Program, Biogen, Cambridge, MA; Department of Child Neurology (M.S.), National Center of Neurology and Psychiatry, Kodaira, Japan; Swedish Neuroscience Institute (M.S.d.M.), Swedish Medical Center, Seattle, WA; Department of Neurosurgery (K. Sweadner), Massachusetts General Hospital and Harvard Medical School, Boston; Neuroscience Institute (M.Z.), Children's Hospital of Orange County, CA; and Departments of Pediatrics and Neurology (K. Silver), University of Chicago and Comer Children's Hospital, Chicago, IL.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5335249PMC
April 2017

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

Mol Genet Metab 2017 03 12;120(3):213-222. Epub 2016 Nov 12.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA; Department of Pediatrics, Harvard Medical School, Boston, MA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346465PMC
March 2017

FHF1 (FGF12) epileptic encephalopathy.

Neurol Genet 2016 Dec 28;2(6):e115. Epub 2016 Oct 28.

Program in Genetics and Genome Biology and Division of Neurology (S.A.-M., B.A.M.), Department of Paediatrics, The Hospital for Sick Children, and University of Toronto, Ontario, Canada; Institute of Genetic Medicine (M.S.), International Centre for Life, Pediatric Neurology (V.R.), Newcastle General Hospital, UK; Center for Human Genetics (S.D., K.D.), UH Case Medical Center, Cleveland, OH; Department of Molecular and Human Genetics (F.X., Y.Y., J.A.R.), Baylor College of Medicine, Houston, TX; Baylor Miraca Genetics Laboratories (F.X., Y.Y.), Houston, TX; The Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK; Division of Neurology (P.C.), CHUM Notre-Dame, Hospital University of Montreal, Quebec, Canada; Department of Pediatrics (J.L.M., P.M.C.), Department of Neurosciences (J.L.M., P.M.C.), Université de Montréal, Québec, Canada; and CHU Sainte-Justine Research Center (J.L.M., F.A.H., P.M.C.), Montreal, Quebec, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5087254PMC
December 2016

Neurologic disorders due to mitochondrial DNA mutations.

Semin Pediatr Neurol 2012 Dec;19(4):194-202

Center for Human Genetics, University Hospitals, Case Medical Center, Cleveland, OH 44195, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.spen.2012.09.006DOI Listing
December 2012