Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Autor: Kornbluh AB; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Baldwin A; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Fatemi A; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Vanderver A; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Adang LA; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Van Haren K; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Sampson J; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Eichler FS; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Sadjadi R; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Engelen M; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia., Orthmann-Murphy JL; From the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.

Publikováno v: Neurology. Genetics [Neurol Genet] 2024 Oct 03; Vol. 10 (5), pp. e200192. Date of Electronic Publication: 2024 Oct 03 (Print Publication: 2024).

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Autor: Koch RL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address: rebecca.koch@duke.edu., Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kiely BT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Asai A; Department of Pediatrics, University of Cincinnati Medical Center, Cincinnati, OH, USA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Smith AL; Division of Urology, Department of Surgery, University of Pennsylvania Health System, Philadelphia, PA, USA., Bali DS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Kang PB; Paul and Sheila Wellstone Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA., Landstrom AP; Division of Cardiology, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA; Department of Cell Biology, Duke University School of Medicine, Durham, NC, USA., Akman HO; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Burrow TA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Arkansas Children's Hospital, Little Rock, AR, USA., Orthmann-Murphy JL; Department of Neurology, University of Pennsylvania, Philadelphia, PA, USA., Goldman DS; Adult Polyglucosan Body Disease Research Foundation, Brooklyn, NY, USA., Pendyal S; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., El-Gharbawy AH; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Austin SL; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Case LE; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Doctor of Physical Therapy Division, Department of Orthopedic Surgery, Duke University School of Medicine, Durham, NC, USA., Schiffmann R; Texas Neurology Group, Dallas, TX, USA., Hirano M; Department of Neurology, Columbia University Irving Medical Center, New York City, NY, USA., Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2023 Mar; Vol. 138 (3), pp. 107525. Date of Electronic Publication: 2023 Jan 25.

Myelin remodeling through experience-dependent oligodendrogenesis in the adult somatosensory cortex.

Autor: Hughes EG; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. ethan.hughes@ucdenver.edu.; Department of Cell and Developmental Biology, University of Colorado School of Medicine, Aurora, CO, USA. ethan.hughes@ucdenver.edu., Orthmann-Murphy JL; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Langseth AJ; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Bergles DE; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. dbergles@jhmi.edu.

Publikováno v: Nature neuroscience [Nat Neurosci] 2018 May; Vol. 21 (5), pp. 696-706. Date of Electronic Publication: 2018 Mar 19.

Clinical Reasoning: A 70-year-old woman with acute-onset weakness and progressive hemiataxia.

Autor: Schreck KC; From the Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Orthmann-Murphy JL; From the Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD., Newsome SD; From the Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD. snewsom2@jhmi.edu.

Publikováno v: Neurology [Neurology] 2016 Nov 29; Vol. 87 (22), pp. e264-e268.

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.

Autor: Orthmann-Murphy JL; Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104-6077, USA., Salsano E, Abrams CK, Bizzi A, Uziel G, Freidin MM, Lamantea E, Zeviani M, Scherer SS, Pareyson D

Publikováno v: Brain : a journal of neurology [Brain] 2009 Feb; Vol. 132 (Pt 2), pp. 426-38. Date of Electronic Publication: 2008 Dec 04.