Adeno-associated virus-mediated gene therapy in a patient with Canavan disease using dual routes of administration and immune modulation.

Autor: Corti M; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Byrne BJ; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Gessler DJ; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Neurosurgery, University of Minnesota Medical School, Minneapolis, MN, USA., Thompson G; Department of Pediatric Surgery, College of Medicine, University of Florida, Gainesville, FL, USA., Norman S; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Lammers J; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Coleman KE; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Liberati C; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Elder ME; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA.; University of Florida Health Shands Children's Hospital, Gainesville, FL, USA., Escolar ML; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, USA., Tuna IS; Department of Radiology, College of Medicine, University of Florida, Gainesville, FL, USA., Mesaros C; Penn Medicine/Children's Hospital of Philadelphia Center of Excellence in Friedreich's Ataxia, University of Pennsylvania, Philadelphia, PA, USA.; Center of Excellence in Environmental Toxicology, Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Kleiner GI; Department of Pediatrics, Miller School of Medicine, University of Miami, Miami, FL, USA., Barbouth DS; Division of Clinical and Translational Genetics, Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA., Gray-Edwards HL; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Radiology, University of Massachusetts Medical School, Worcester, MA, USA., Clement N; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Cleaver BD; Powell Gene Therapy Center, Department of Pediatrics, College of Medicine, University of Florida, Gainesville, FL, USA., Gao G; Horae Gene Therapy Center, University of Massachusetts Medical School, Worcester, MA, USA.; Li Weibo Institute for Rare Diseases Research, University of Massachusetts Medical School, Worcester, MA, USA.; Department of Microbiology and Physiological Systems, University of Massachusetts Medical School, Worcester, MA, USA.

Publikováno v: Molecular therapy. Methods & clinical development [Mol Ther Methods Clin Dev] 2023 Jun 19; Vol. 30, pp. 303-314. Date of Electronic Publication: 2023 Jun 19 (Print Publication: 2023).

Uniparental Disomy Causing Myoclonus Dystonia Associated with Russell Silver Syndrome.

Autor: Shpiner DS; Department of Neurology University of Miami Miller School of Medicine Miami FL USA., Bardos J; Department of Human Genetics University of Miami Miller School of Medicine Miami FL USA., Barbouth DS; Department of Human Genetics University of Miami Miller School of Medicine Miami FL USA., Moore HP; Department of Neurology University of Miami Miller School of Medicine Miami FL USA.

Publikováno v: Movement disorders clinical practice [Mov Disord Clin Pract] 2019 May 07; Vol. 6 (5), pp. 409-410. Date of Electronic Publication: 2019 May 07 (Print Publication: 2019).

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Autor: Guissart C; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Latypova X; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Rollier P; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France., Khan TN; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Stamberger H; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Kjaergaard S; Chromosome Laboratory, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark., Weckhuysen S; Division of Neurology, University Hospital Antwerp (UZA), 2610 Antwerp, Belgium; Neurogenetics Group, Center for Molecular Neurology, VIB, 2650 Antwerp, Belgium; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, 2650 Antwerp, Belgium., Lesca G; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Besnard T; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia., Schema L; University of Minnesota-Fairview, Minneapolis, MN 55454, USA., Chiocchetti AG; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany., McDonald M; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., de Bellescize J; Epilepsy, Sleep and Pediatric Neurophysiology Department, Hospices Civils, Lyon, 69677 Bron, France., Vincent M; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Sattler S; Carle Physician Group, Urbana, IL 61801, USA., Forghani I; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA., Freitag CM; Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, JW Goethe University Frankfurt, Deutschordenstraße 50, Frankfurt am Main 60528, Germany., Barbouth DS; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Cadieux-Dion M; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Safina NP; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Dubourg C; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France., Grote L; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Carré W; Laboratoire de Génétique Moléculaire & Génomique, CHU de Rennes, 35033 Rennes, France., Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital and Institute of Clinical Medicine, University of Tartu, 2 L.Puusepa street, Tartu 51014, Estonia., Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri Kansas City, School of Medicine, Kansas City, MO 64108, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA., Boland A; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France., Karlowicz DH; Division of Medical Genetics, Department of Pediatrics, Duke University, Durham, NC 27710, USA., Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, DRF, CEA, Evry, France., Wojcik MH; The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Pressman R; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB, room 359 (M-860), Miami, FL 33136, USA., Isidor B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Vogels A; Center for Human Genetics, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Van Paesschen W; Department of Neurology, University Hospitals Leuven, Herestraat 49, 3000 Leuven, Belgium., Al-Gazali L; Department of Paediatrics, College of Medicine and Health Sciences, United Arab Emirates University, PO Box 17666, Al Ain, United Arab Emirates., Al Shamsi AM; Department of Paediatrics, Tawam Hospital, PO Box 15258, Al-Ain, United Arab Emirates., Claustres M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Pujol A; Neurometabolic Diseases Laboratory, IDIBELL, Gran Via, 199, L'Hospitalet de Llobregat, 08908 Barcelona, and CIBERER U759, Center for Biomedical Research on Rare Diseases, 08908 Barcelona, Spain, Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain., Sanders SJ; Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Rivier F; Department of Neuropaediatrics and CR Maladies Neuromusculaires, CHU Montpellier, PhyMedExp, INSERM, CNRS, University of Montpellier, Montpellier, France., Leboucq N; Neuroradiologie, CHU de Montpellier, 34090 Montpellier, France., Cogné B; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Sasorith S; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Sanlaville D; Service de génétique, Groupement Hospitalier Est, Hospices Civils de Lyon, Lyon, France; INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Bézieau S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France., Koenig M; EA7402 Institut Universitaire de Recherche Clinique, and Laboratoire de Génétique Moléculaire, CHU and Université de Montpellier, 34093 Montpellier, France., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: erica.davis@duke.edu., Pasquier L; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares' (CRDI), Centre de référence anomalies du développement CLAD-Ouest, CHU Rennes, 35203 Rennes, France., Küry S; Service de Génétique Médicale, CHU Nantes, 9 quai Moncousu, 44093 Nantes Cedex 1, France; l'institut du thorax, INSERM, CNRS, UNIV Nantes, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 744-759. Date of Electronic Publication: 2018 Apr 12.

Causes of death in 184 patients with type 1 Gaucher disease from the United States who were never treated with enzyme replacement therapy.

Autor: Weinreb NJ; The Dr John T Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, 1601 12th Avenue, Miami, FL 33136, USA; University Research Foundation for Lysosomal Storage Diseases, 7367 Wexford Terrace, Boca Raton, FL 33433, USA. Electronic address: N.weinreb@med.miami.edu., Barbouth DS; The Dr John T Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, 1601 12th Avenue, Miami, FL 33136, USA. Electronic address: DBarbouth@med.miami.edu., Lee RE; Department of Pathology, University of Pittsburgh, PA 15261, USA. Electronic address: Leere@msx.upmc.edu.

Publikováno v: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2018 Feb; Vol. 68, pp. 211-217. Date of Electronic Publication: 2016 Oct 24.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Autor: Al-Sannaa NA; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Bay L; Department of Inherited Errors of Metabolism, Hospital Juan P. Garrahan, Buenos Aires, Argentina., Barbouth DS; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Benhayoun Y; Pediatric Services, Robert Boulin Hospital, Libourne, France., Goizet C; CHU Bordeaux, Pellegrin Hospital, Department and Univ. Bordeaux, laboratoire MRGM (EA4576), Bordeaux, France., Guelbert N; Metabolic Section, Children's Hospital of Córdoba, Córdoba, Argentina., Jones SA; Manchester Centre for Genomic Medicine, St. Mary's Hospital, CMFT, University of Manchester, Manchester, UK., Kyosen SO; Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil., Martins AM; Reference Center for Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo, Brazil., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Hasbro Children's Hospital, Brown University, Providence, RI, USA., Reig C; Pediatric Division, General Hospital of Segovia, Segovia, Spain., Pleat R; Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA, 02142, USA., Fallet S; Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA, 02142, USA.; Pfizer Inc, New York City, NY, USA., Ivanovska Holder I; Genzyme, a Sanofi company, 500 Kendall Street, Cambridge, MA, 02142, USA. Iva.IvanovskaHolder@genzyme.com.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Oct 07; Vol. 10, pp. 131. Date of Electronic Publication: 2015 Oct 07.