Publications by authors named "Raphael Schiffmann"

97Publications

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.

Mol Genet Metab 2020 Oct 20. Epub 2020 Oct 20.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States of America.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2020.10.010DOI Listing
October 2020

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Authors:
Félixe Pelletier Stefanie Perrier Ferdy K Cayami Amytice Mirchi Stephan Saikali Luan T Tran Nicole Ulrick Kether Guerrero Emmanouil Rampakakis Rosalina M L van Spaendonk Sakkubai Naidu Daniela Pohl William T Gibson Michelle Demos Cyril Goizet Ingrid Tejera-Martin Ana Potic Brent L Fogel Bernard Brais Michel Sylvain Guillaume Sebire Charles Marques Lourenço Joshua L Bonkowsky Coriene Catsman-Berrevoets Pedro S Pinto Sandya Tirupathi Petter Strømme Ton de Grauw Dorota Gieruszczak-Bialek Ingeborg Krägeloh-Mann Hanna Mierzewska Heike Philippi Julia Rankin Tahir Atik Brenda Banwell William S Benko Astrid Blaschek Annette Bley Eugen Boltshauser Drago Bratkovic Klara Brozova Icíar Cimas Christopher Clough Bernard Corenblum Argirios Dinopoulos Gail Dolan Flavio Faletra Raymond Fernandez Janice Fletcher Maria Eugenia Garcia Garcia Paolo Gasparini Janina Gburek-Augustat Dolores Gonzalez Moron Aline Hamati Inga Harting Christoph Hertzberg Alan Hill Grace M Hobson A Micheil Innes Marcelo Kauffman Susan M Kirwin Gerhard Kluger Petra Kolditz Urania Kotzaeridou Roberta La Piana Eriskay Liston William McClintock Meriel McEntagart Fiona McKenzie Serge Melançon Anjum Misbahuddin Mohnish Suri Fernando I Monton Sebastien Moutton Raymond P J Murphy Miriam Nickel Hüseyin Onay Simona Orcesi Ferda Özkınay Steffi Patzer Helio Pedro Sandra Pekic Mercedes Pineda Marfa Amy Pizzino Barbara Plecko Bwee Tien Poll-The Vera Popovic Dietz Rating Marie-France Rioux Norberto Rodriguez Espinosa Anne Ronan John R Ostergaard Elsa Rossignol Rocio Sanchez-Carpintero Anna Schossig Nesrin Senbil Laura K Sønderberg Roos Cathy A Stevens Matthis Synofzik László Sztriha Daniel Tibussek Dagmar Timmann Davide Tonduti Bart P van de Warrenburg Maria Vázquez-López Sunita Venkateswaran Pontus Wasling Evangeline Wassmer Richard I Webster Gert Wiegand Grace Yoon Joost Rotteveel Raphael Schiffmann Marjo van der Knaap Adeline Vanderver Gabriel Á Martos-Moreno Constantin Polychronakos Nicole I Wolf Geneviève Bernard

J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.

Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/clinem/dgaa700DOI Listing
October 2020

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model.

J Lipid Res 2020 Nov 31;61(11):1410-1423. Epub 2020 Aug 31.

Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1194/jlr.RA120000909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7604726PMC
November 2020

D-DEMØ, a distinct phenotype caused by mutations.

Neurol Genet 2020 Oct 4;6(5):e466. Epub 2020 Aug 4.

Duke University (L.P., M.P., M.M.M., N.W., V.S., A.H., M.A.M.), Durham, NC; UC Davis Health (K.H.), Sacramento; Baylor Scott & White Health (R.S.), Dallas, TX; Rosalind Franklin University of Medicine and Science (D.M.M.), Chicago, IL; University of North Carolina at Chapel Hill (E.L.H.); Columbia University (D.G.), New York City, NY; and Glycan Therapeutics, LLC (V.P.), Chapel Hill, NC.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413631PMC
October 2020

Unique molecular signature in mucolipidosis type IV microglia.

J Neuroinflammation 2019 Dec 28;16(1):276. Epub 2019 Dec 28.

Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, DHHS, 10CRC, Rm 5-2571, 10 Center Dr, Bethesda, MD, 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12974-019-1672-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935239PMC
December 2019

Variation in cognitive function over time in Gaucher disease type 3.

Neurology 2019 12 12;93(24):e2272-e2283. Epub 2019 Nov 12.

From the Section on Molecular Neurogenetics (A.M.S., E.W., T.L., S.U., E.R., N.T., T.R.L.G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD; and Kimberly H. Courtwright and Joseph W. Summers Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX. The present address for Tamanna Roshan Lal is Lysosomal Storage and Treatment Program, George Washington University School of Medicine and Children's National Rare Disease Institute, Washington DC.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000008618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937490PMC
December 2019

Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort.

J Inherit Metab Dis 2020 03 30;43(2):326-333. Epub 2019 Sep 30.

Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12167DOI Listing
March 2020

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Mol Genet Metab Rep 2019 Sep 19;20:100494. Epub 2019 Jul 19.

Medical Genetics Service, HCPA and Department of Genetics, UFRGS, Porto Alegre, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2019.100494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6656697PMC
September 2019

Diagnosis, prognosis, and treatment of leukodystrophies.

Lancet Neurol 2019 10 12;18(10):962-972. Epub 2019 Jul 12.

Department of Pediatric Neurology, Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, Netherlands; Amsterdam Neuroscience, Amsterdam, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/S1474-4422(19)30143-7DOI Listing
October 2019

The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells.

Nat Commun 2019 04 30;10(1):1785. Epub 2019 Apr 30.

Copenhagen Center for Glycomics, Departments of Cellular and Molecular Medicine and Odontology, Faculty of Health Sciences, University of Copenhagen, Blegdamsvej 3, 2200 N, Copenhagen, Denmark.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-09809-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491494PMC
April 2019

Dystonia in RNA Polymerase III-Related Leukodystrophy.

Mov Disord Clin Pract 2019 Feb 9;6(2):155-159. Epub 2019 Jan 9.

Department of Neurology and Neurosurgery McGill University Montreal Canada.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/mdc3.12715
Publisher Site
http://dx.doi.org/10.1002/mdc3.12715DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384176PMC
February 2019

Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider.

Neurology 2019 01 7;92(2):61-62. Epub 2018 Dec 7.

From the Department of Pediatrics and Neurology (G.V.R.), Division of Pediatric Neurology, Penn State Children's Hospital, Hershey, PA; and Institute of Metabolic Disease (R.S.), Baylor Scott & White Research Institute, Dallas, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000006721DOI Listing
January 2019

Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Pediatr Neurol 2018 07 9;84:21-26. Epub 2018 Apr 9.

Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada; Department of Pediatrics, McGill University, Montreal, Quebec, Canada; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.015DOI Listing
July 2018

Low frequency of Fabry disease in patients with common heart disease.

Genet Med 2018 07 26;20(7):754-759. Epub 2017 Oct 26.

Amicus Therapeutics Inc., Cranbury, New Jersey, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.175DOI Listing
July 2018

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome.

J Inherit Metab Dis 2018 09 6;41(5):877-883. Epub 2017 Nov 6.

INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Brain and Spine Institute, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0103-xDOI Listing
September 2018

Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression.

J Inherit Metab Dis 2018 03 6;41(2):231-238. Epub 2017 Nov 6.

Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX, 75226, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0107-6DOI Listing
March 2018

Functionally pathogenic variants in vitro may not manifest a phenotype in vivo.

Neurol Genet 2017 Aug 14;3(4):e162. Epub 2017 Jul 14.

Baylor Research Institute (N.M., B.L., R.S.), Baylor Scott and White Health, Dallas, TX; Unit of Molecular Neurogenetics (A.N., D.G.), Foundation IRCCS Institute of Neurology "Besta," Milan, Italy; Mitochondrial Biology Unit (A.R.), Medical Research Council, Cambridge, United Kingdom; Department of Bioinformatics (B.C.), University of Texas Southwestern Medical Center, Dallas; and Department of Neurology (A.V.), George Washington University School of Medicine, Children's National Health, DC.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511247PMC
August 2017

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

Eur J Med Genet 2017 Sep 21;60(9):451-464. Epub 2017 Jun 21.

Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.06.004DOI Listing
September 2017

Residual thromboxane activity and oxidative stress: influence on mortality in patients with stable coronary artery disease.

Coron Artery Dis 2017 Jun;28(4):287-293

aBaylor Heart and Vascular Institute bDepartment of Internal Medicine, Texas A&M Health Science Center, College of Medicine, Dallas Campus cBaylor Scott & White Research Institute dInstitute of Metabolic Disease eDivision of Cardiology, Baylor Jack and Jane Hamilton Heart and Vascular Hospital fDivision of Cardiology, Baylor University Medical Center, Dallas gDivision of Cardiology, Baylor All Saints Medical Center, Fort Worth hDivision of Cardiology, The Heart Hospital Baylor Plano, Plano, Texas iCorgenix Inc., Broomfield, Colorado, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCA.0000000000000461DOI Listing
June 2017

Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Kidney Int 2017 02 18;91(2):284-293. Epub 2016 Dec 18.

Department of Medicine, Division of Nephrology, University Hospital of Würzburg, Würzburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.kint.2016.10.004DOI Listing
February 2017

Gaucher disease: Progress and ongoing challenges.

Mol Genet Metab 2017 Jan - Feb;120(1-2):8-21. Epub 2016 Nov 17.

Medical Genetics Branch, NHGRI, NIH, Bldg 35A Room 1E623, 35 Convent Drive, Bethesda, MD 20892, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.11.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425955PMC
August 2017

Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues.

Mol Genet Metab 2017 Jan - Feb;120(1-2):1-7. Epub 2016 Nov 12.

Department of Human Genetics and Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.10.010DOI Listing
August 2017

Oxidative stress reflected by increased F-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B levels in patients with coronary artery disease.

Thromb Res 2016 Dec 26;148:85-88. Epub 2016 Oct 26.

Baylor Research Institute, Dallas, TX, United States; Institute of Metabolic Disease, Dallas, TX, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.thromres.2016.10.022DOI Listing
December 2016

BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases.

Sci Rep 2016 Sep 27;6:33684. Epub 2016 Sep 27.

Department of Physiology and Biophysics, Dalhousie University, Sir Charles Tupper Medical Building, 5850 College Street, Halifax, B3H 4R2, Nova Scotia, Canada.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037385PMC
http://dx.doi.org/10.1038/srep33684DOI Listing
September 2016

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Nat Genet 2016 10 29;48(10):1185-92. Epub 2016 Aug 29.

Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution and Genomic Sciences, University of Manchester, Manchester, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045717PMC
http://dx.doi.org/10.1038/ng.3661DOI Listing
October 2016

Update on Leukodystrophies: A Historical Perspective and Adapted Definition.

Neuropediatrics 2016 Dec 26;47(6):349-354. Epub 2016 Aug 26.

Department of Child Neurology, VU University Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0036-1588020DOI Listing
December 2016

Fabry Disease: A Disorder of Childhood Onset.

Pediatr Neurol 2016 11 29;64:10-20. Epub 2016 Jul 29.

Department of Pediatric Neurology and Metabolic Medicine, Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.001DOI Listing
November 2016

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

N Engl J Med 2016 Aug;375(6):545-55

From the Division of Medical Genetics, University of Versailles, Paris-Saclay University, Versailles, and Assistance Publique-Hôpitaux de Paris, Paris - both in France (D.P.G.); the Department of Academic Haematology, Royal Free and University College Medical School, London (D.A.H.), Salford Royal NHS Foundation Trust, Salford (A.J.), and University of Sunderland, Sunderland (S.W.) - all in the United Kingdom; the Department of Nephrology, Royal Melbourne Hospital, Parkville, VIC (K. Nicholls), and the Metabolic Clinic, Women's and Children's Hospital, Adelaide, SA (D.B.) - both in Australia; the Clinical Research Division, Hôpital du Sacré-Coeur, Montreal (D.G.B.); Medical Genetics Service, Clinic Hospital of Porto Alegre, Porto Alegre (R.G.), and Hospital das Clínicas Faculdade de Medicina da Universidade de São Paulo-Ribeirão Preto, Ribeirão Preto (C.M.L.) - both in Brazil; the Departments of Human Genetics (W.R.W., S.P.S.) and Ophthalmology (S.P.S.), Emory University School of Medicine, Atlanta; the Dermatology Unit, University of Parma, Parma, Italy (C.F.); the Faculty of Medicine, Department and Laboratory of Pediatric Metabolic Disorders, Gazi University, Ankara, Turkey (F.E.); the Department of Pediatrics, Hospital Alemán, Buenos Aires (H.A.); the Department of Medical Endocrinology, Rigshospital, Copenhagen University Hospital, Copenhagen (U.F.-R.); Infusion Associates, Grand Rapids, MI (K. Nedd); the Faculty of Medicine, Kasr El Ainy Hospital, Cairo (U.S.E.D.); New York Presbyterian Hospital, New York (M.B.); the Division of Genetics, Ann & Robert H. Lurie Children's Hospital of Chicago, and Northwestern University Feinberg School of Medicine, Chicago (J. Charrow); the Department of Urology, University of Kansas Medical Center, Kansas City (M.D., A.T.); Children's Hospital of Pittsburgh, Pittsburgh (D.F.); Hospital Miguel Servet, Zaragoza (P.G.), and Fundacio Puigvert, Universidad Autónoma de Barcelona, Barcelona (R.T.) - both in Spain; O & O Alpa

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1510198DOI Listing
August 2016

Brain MRI and motor function in leukodystrophies.

Neurology 2016 08 20;87(8):748-9. Epub 2016 Jul 20.

From the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Division of Child Neurology (B.B.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003017DOI Listing
August 2016

Is it Fabry disease?

Genet Med 2016 12 19;18(12):1181-1185. Epub 2016 May 19.

Department of Medical Biochemistry, Leiden University, Leiden, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2016.55DOI Listing
December 2016

Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

Neurol Genet 2016 Apr 25;2(2):e55. Epub 2016 Feb 25.

Department of Pediatric Hematology (M.A.), Cairo University Pediatric Hospital, Egypt; and Department of Biostatistics (D.B.) and Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830203PMC
April 2016

Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice.

J Inherit Metab Dis 2016 05 10;39(3):447-455. Epub 2016 Mar 10.

Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX, 75226, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9920-6DOI Listing
May 2016

A genetic form of achlorhydria and gastritis.

Am J Clin Nutr 2015 Dec;102(6):1615

From the Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX (e-mail:

View Article

Download full-text PDF

Source
http://ajcn.nutrition.org/content/102/6/1615.1.full.pdf+html
Web Search
http://ajcn.nutrition.org/cgi/doi/10.3945/ajcn.115.120550
Publisher Site
http://dx.doi.org/10.3945/ajcn.115.120550DOI Listing
December 2015

Fabry disease.

Handb Clin Neurol 2015 ;132:231-48

Institute of Metabolic Disease, Baylor Research Institute, Dallas, TX, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-62702-5.00017-2DOI Listing
August 2016

Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency.

J Neurol Neurosurg Psychiatry 2016 May 3;87(5):550-3. Epub 2015 Nov 3.

Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, Paris, France Department of Neurology, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2015-311475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853553PMC
May 2016

A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease.

J Inherit Metab Dis 2015 Nov 22;38(6):1129-36. Epub 2015 Apr 22.

Pediatric Neurology and Center for Rare Disorders, Center for Pediatric and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
Web Search
http://link.springer.com/10.1007/s10545-015-9845-5
Publisher Site
http://dx.doi.org/10.1007/s10545-015-9845-5DOI Listing
November 2015

Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice.

Hum Mol Genet 2015 Jun 20;24(11):3181-91. Epub 2015 Feb 20.

Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX 75226, USA.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddv070DOI Listing
June 2015

Disease specific therapies in leukodystrophies and leukoencephalopathies.

Mol Genet Metab 2015 Apr 7;114(4):527-36. Epub 2015 Feb 7.

Department of Neurology, Children's National Health System, Washington, DC, USA; Center for Genetic Medicine Research, Children's National Health System, Washington, DC USA; Department of Integrated Systems Biology, George Washington University School of Medicine, Washington, DC, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390468PMC
April 2015

Leukoencephalopathy: "Before concluding treatment efficacy...".

Neurology 2015 Jan 19;84(3):218-9. Epub 2014 Dec 19.

From the Departments of Neurology and Microbiology (D.G.), University of Colorado School of Medicine, Aurora; and Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001165DOI Listing
January 2015

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.

J Inherit Metab Dis 2015 Jan 28;38(1):77-84. Epub 2014 Aug 28.

Institute of Metabolic Disease, Baylor Research Institute, 3812 Elm Street, Dallas, TX, USA,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-014-9758-8DOI Listing
January 2015

A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

Nat Commun 2014 Aug 14;5:4681. Epub 2014 Aug 14.

1] Department of Pharmacy-Center for Drug Research and Center for Integrated Protein Science Munich (CIPSM), Ludwig-Maximilians-Universität München, Munchen 81377, Germany [2].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms5681DOI Listing
August 2014

Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology 2014 Jun 7;82(23):2063-71. Epub 2014 May 7.

From the Department of Life Sciences (C.D., E.B., I.F.), University of Parma; Unit of Molecular Neurogenetics (D.D., L.M., C.L., D.G.), SOSD Genetics of Neurodegenerative and Metabolic Diseases (C.M.), and Departments of Clinical Neurosciences (E.S.) and Neuroradiology (M.S.), Fondazione Istituto Neurologico Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico, Milan, Italy; Department of Child Neurology (S.H.K., E.M.H., T.E.M.A., N.I.W., M.S.v.d.K.), Department of Clinical Chemistry, Metabolic Unit (G.S.S.), Neuroscience Campus Amsterdam, and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Technical University, Munich; Institute of Human Genetics (T.B.H., T.M.S., T.M., H.P.), Helmholtz Zentrum Munich, Neuherberg, Germany; Department of Molecular and Human Genetics (L.-J.W.), Baylor College of Medicine, Houston, TX; Department of Genetics (K.C.), and Center for Genetic Medicine Research, Department of Neurology (A.V.), Children's National Medical Center, Washington, DC; Department of Clinical Genetics (A.C.), Liverpool Hospital, Sydney, Australia; Neurology Department (H.R.), Centro Hospitalar São João, and Department of Clinical Neuroscience and Mental Health, Faculty of Medicine, University of Porto, Portugal; Medical Genetics Center (K.Ő.), United Laboratories, Tartu University Clinics, Estonia; Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; and Mitochondrial Biology Unit-MRC (M.Z.), Cambridge, UK.

View Article

Download full-text PDF

Source
http://www.neurology.org/content/82/23/2063.full.pdf
Web Search
http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000049
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000000497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4118500PMC
June 2014

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.

Brain 2014 Jul 30;137(Pt 7):1921-30. Epub 2014 Apr 30.

1 Department of Child Neurology, VU University Medical Centre, Neuroscience Campus Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands10 Department of Functional Genomics, Centre for Neurogenomics and Cognitive Research, VU University, De Boelelaan 1085, 1081 HV Amsterdam, The Netherlands

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awu110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345790PMC
July 2014

Quantitative neuroimaging in mucolipidosis type IV.

Mol Genet Metab 2014 Feb 21;111(2):147-51. Epub 2013 Nov 21.

Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4097300PMC
February 2014

HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner.

Mol Ther Nucleic Acids 2013 Oct 22;2:e130. Epub 2013 Oct 22.

Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/mtna.2013.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027426PMC
October 2013

Reply: To PMID 23034915.

Ann Neurol 2013 Feb;73(2):318

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.23855DOI Listing
February 2013

Decision support for diagnosis: co-evolution of tools and resources.

Neurology 2012 May 18;78(20):1546-7. Epub 2012 Apr 18.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0b013e3182563c36DOI Listing
May 2012

4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations.

Arch Neurol 2012 Jul;69(7):920-3

Clinic for Child Neurology and Psychiatry, Department of Child Neurology, University of Belgrade, Serbia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archneurol.2011.1963DOI Listing
July 2012

Early alterations of brain cellular energy homeostasis in Huntington disease models.

J Biol Chem 2012 Jan 28;287(2):1361-70. Epub 2011 Nov 28.

INSERM UMR S975 and Assistance-Publique des Hôpitaux de Paris, Department of Genetics, Hôpital La Salpêtrière, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1074/jbc.M111.309849DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3256882PMC
January 2012