Publications by authors named "Deborah L Renaud"

33Publications

Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus.

Ophthalmology 2020 Sep 9. Epub 2020 Sep 9.

Department of Ophthalmology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota; Department of Neurology, Mayo Clinic College of Medicine and Science, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2020.09.011DOI Listing
September 2020

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Neurol Genet 2020 Jun 11;6(3):e425. Epub 2020 May 11.

Department of Neurology and Neurosurgery (S.P., L.G., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, K.P., G.B.), McGill University; Child Health and Human Development Program (S.P., M.A.M.-R., L.T.T., K.G., L.D., M. Srour, G.B.), Research Institute of the McGill University Health Centre; Department of Pediatrics (L.G., L.T.T., K.G., L.D., M. Srour, G.B.), McGill University, Montreal, Quebec, Canada; Division of Clinical and Metabolic Genetics (L.G.), Division of Neurology, the Hospital for Sick Children, University of Toronto, Ontario, Canada; Department of Pathology (C.F.-B.), CHU Sainte-Justine, Université de Montreal, Quebec, Canada; Division of Pathology and Laboratory Medicine (M.K.D.), Phoenix Children's Hospital, AZ; Department of Human Genetics (L.T.T., K.G., L.D., G.B.), McGill University, Montreal, Quebec, Canada; McGill University (K.P.), Brain Tumour Research Center Montreal Neurological Institute and Hospital, Quebec, Canada; Department of Neurology (D.L.R.), Department of Clinical Genomics, Department of Pediatrics, Mayo Clinic, Rochester, MN; Department of Pediatrics (M. Saito), University of California Riverside School of Medicine, Riverside Medical Clinic, CA; Department of Pediatrics (S.C.), Beaver Medical Group, Redlands, CA; Division of Pediatric Neurology (S.L.), Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany; Institute of Human Genetics (B.A., T.B.H.), Technische Universität München, Munich, Germany; Institute of Medical Genetics and Applied Genomics (T.B.H.), University of Tübingen, Germany; Department of Neurology (I.T.-M., F.I.M., N.R.-E.), Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Canary Islands, Spain; Department of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Ontario, Canada; Department of Pediatrics (S.N.) and Department of Neurology (A.G.), Wake Forest School of Medicine, Winston-Salem, NC; Adult and Paediatric National Metabolic Service (E.G.), Starship Children's Hospital, Auckland, New Zealand; and Division of Medical Genetics (G.B.), Department of Specialized Medicine, Montreal Children's Hospital and McGill University Health Centre, Quebec, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7238899PMC
June 2020

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Mol Genet Genomic Med 2019 07 21;7(7):e00712. Epub 2019 May 21.

Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/mgg3.712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625138PMC
July 2019

Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance.

Neuromuscul Disord 2019 02 22;29(2):146-149. Epub 2018 Nov 22.

Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.nmd.2018.11.007DOI Listing
February 2019

Internal Carotid Artery Pseudoaneurysm and Ischemic Stroke Secondary to Retropharyngeal and Parapharyngeal Abscess.

J Child Neurol 2017 02 25;32(2):230-236. Epub 2016 Nov 25.

1 Department of Neurology, Mayo Clinic, Rochester, MN, USA.

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http://dx.doi.org/10.1177/0883073816678556DOI Listing
February 2017

Adult-Onset Leukoencephalopathies.

Authors:
Deborah L Renaud

Continuum (Minneap Minn) 2016 Apr;22(2 Dementia):559-78

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http://dx.doi.org/10.1212/CON.0000000000000303DOI Listing
April 2016

Cognitive impairment associated with low ferritin responsive to iron supplementation.

Pediatr Neurol 2014 Dec 6;51(6):831-3. Epub 2014 Sep 6.

Department of Neurology, Mayo Clinic, Rochester, Minnesota; Department of Pediatrics, Mayo Clinic, Rochester, Minnesota. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.08.035DOI Listing
December 2014

Childhood onset of stiff-man syndrome.

JAMA Neurol 2013 Dec;70(12):1531-6

Department of Neurology, College of Medicine, Mayo Clinic, Rochester, Minnesota2Department of Laboratory Medicine and Pathology, College of Medicine, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1001/jamaneurol.2013.4442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819072PMC
December 2013

Typical clinical findings should prompt investigation for juvenile Huntington disease.

Pediatr Neurol 2013 Apr;48(4):333-4

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.12.023DOI Listing
April 2013

Clinical approach to leukoencephalopathies.

Authors:
Deborah L Renaud

Semin Neurol 2012 Feb;32(1):29-33

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55901, USA.

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http://dx.doi.org/10.1055/s-0032-1306383DOI Listing
February 2012

Leukoencephalopathies in adulthood.

Semin Neurol 2012 Feb 15;32(1):85-94. Epub 2012 Mar 15.

Department of Neurology, Mayo Clinic, Rochester, Minnesota 55901, USA.

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http://dx.doi.org/10.1055/s-0032-1306391DOI Listing
February 2012

Lysosomal disorders associated with leukoencephalopathy.

Authors:
Deborah L Renaud

Semin Neurol 2012 Feb 15;32(1):51-4. Epub 2012 Mar 15.

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, 200 First St. SW, Rochester, MN 55901, USA.

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http://dx.doi.org/10.1055/s-0032-1306386DOI Listing
February 2012

Leukoencephalopathies associated with macrocephaly.

Authors:
Deborah L Renaud

Semin Neurol 2012 Feb 15;32(1):34-41. Epub 2012 Mar 15.

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota 55901, USA.

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http://dx.doi.org/10.1055/s-0032-1306384DOI Listing
February 2012

Inherited leukoencephalopathies.

Authors:
Deborah L Renaud

Semin Neurol 2012 Feb 15;32(1):3-8. Epub 2012 Mar 15.

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http://dx.doi.org/10.1055/s-0032-1306380DOI Listing
February 2012

Severe spinal cord atrophy associated with spastic paraparesis.

Pediatr Neurol 2011 Jan;44(1):75-7

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.08.019DOI Listing
January 2011

MRS is the test of choice for detecting and monitoring disorders of creatine metabolism.

Pediatr Neurol 2009 May;40(5):408-10

Department of Radiology, Mayo Clinic Foundation, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.12.012DOI Listing
May 2009

Classical (type I) lissencephaly and Miller-Dieker syndrome.

Pediatr Neurol 2009 Apr;40(4):324-5

Department of Neurology, Mayo Clinic, SW Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.11.008DOI Listing
April 2009

Magnetic resonance imaging findings in Alexander disease.

Pediatr Neurol 2008 May;38(5):373-4

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2008.01.004DOI Listing
May 2008

Single-photon emission computed tomography in a child with recurrent alternating hemiplegia and quadriplegia.

Pediatr Neurol 2008 Mar;38(3):221-2

Division of Child and Adolescent Neurology, Departments of Neurology and Pediatrics, Mayo Clinic Foundation and College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.12.007DOI Listing
March 2008

Pantothenate-kinase associated neurodegeneration (PKAN) "eye of the tiger" sign.

Pediatr Neurol 2007 Jan;36(1):70-1

Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic Foundation and College of Medicine, Rochester, Minnesota 55901, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.09.005DOI Listing
January 2007

Bull's-eye maculopathy in an infant with Leigh disease.

Am J Ophthalmol 2006 Jul;142(1):186-7

Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.

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http://dx.doi.org/10.1016/j.ajo.2006.02.051DOI Listing
July 2006

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Am J Med Genet A 2006 Jul;140(14):1542-52

Metabolism Research Programme, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31313DOI Listing
July 2006

Spondyloarthropathy presenting at a young age: case report and review.

Skeletal Radiol 2007 Feb 20;36(2):161-4. Epub 2006 May 20.

Department of Pediatrics, Mayo Clinic and Mayo Foundation, 200 First Street, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00256-006-0103-7DOI Listing
February 2007

Steroid-responsive encephalopathy associated with Hashimoto's thyroiditis in an adolescent with chronic hallucinations and depression: case report and review.

Pediatrics 2003 Sep;112(3 Pt 1):686-90

Division of Pediatric Endocrinology and Metabolism, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1542/peds.112.3.686DOI Listing
September 2003

Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

Pediatr Neurol 2002 Apr;26(4):324-8

Department of Medicine, Division of Neurology, University of Alberta Hospital, Edmonton, Canada.

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http://dx.doi.org/10.1016/s0887-8994(01)00398-8DOI Listing
April 2002