Publications by authors named "Dmitriy M Niyazov"

15Publications

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder.

Mol Diagn Ther 2018 10;22(5):571-593

Division of Neurodevelopmental Disorders, Department of Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, 1919 E Thomas St, Phoenix, AZ, USA.

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http://dx.doi.org/10.1007/s40291-018-0352-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132446PMC
October 2018

Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment.

Mol Syndromol 2016 Jul 3;7(3):122-37. Epub 2016 Jun 3.

Department of Pediatrics, Arkansas Children's Hospital and Arkansas Children's Research Institute, University of Arkansas for Medical Sciences, Little Rock, Ark., USA.

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http://dx.doi.org/10.1159/000446586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4988248PMC
July 2016

Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.

Am J Med Genet A 2013 Dec 16;161A(12):3187-90. Epub 2013 Aug 16.

Medical Genetics Department, Ochsner Clinic Foundation, New Orleans, Louisiana.

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http://dx.doi.org/10.1002/ajmg.a.36182DOI Listing
December 2013

Assessing low-frequency repetitive transcranial magnetic stimulation with functional magnetic resonance imaging: a case series.

Physiother Res Int 2014 Jun 18;19(2):117-25. Epub 2011 Jul 18.

Department of Biomedical Engineering, Georgia Institute of Technology/Emory University, Atlanta, GA, USA; Siemens Healthcare, Chicago, IL, USA.

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http://dx.doi.org/10.1002/pri.518DOI Listing
June 2014

Heart transplantation for a patient with Kearns-Sayre syndrome and end-stage heart failure.

Congest Heart Fail 2011 Mar-Apr;17(2):102-4

Department of Cardiology, Ochsner Medical Center, 1514 Jefferson Highway, New Orleans, LA 70001, USA.

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http://dx.doi.org/10.1111/j.1751-7133.2011.00211.xDOI Listing
July 2011

A newborn with congenital complete atrioventricular block, lissencephaly, and skeletal abnormalities: a case of suspected cytomegalovirus infection.

Congenit Heart Dis 2010 Sep-Oct;5(5):486-90

Department of Pediatric Cardiology, Ochsner Medical Center for Children, 1315 Jefferson Highway, New Orleans 70121, USA.

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http://dx.doi.org/10.1111/j.1747-0803.2010.00390.xDOI Listing
March 2011

Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type.

Pediatr Radiol 2008 Sep 14;38(9):994-8. Epub 2008 May 14.

Department of Pediatric Radiology, Children's Healthcare of Atlanta at Scottish Rite, 1001 Johnson Ferry Road NE, Atlanta, GA 30342-1600, USA.

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http://dx.doi.org/10.1007/s00247-008-0877-yDOI Listing
September 2008

Genotype/phenotype correlations in two patients with 12q subtelomere deletions.

Am J Med Genet A 2007 Nov;143A(22):2700-5

Department of Human Genetics, Emory University School of Medicine, Decatur, GA 30033-5207, USA.

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http://dx.doi.org/10.1002/ajmg.a.32005DOI Listing
November 2007

Reductions in interhemispheric motor cortex functional connectivity after muscle fatigue.

Brain Res 2005 Sep;1057(1-2):10-6

Biomedical Engineering, Emory University/Georgia Tech, Hospital Annex, 531 Asbury Circle, Suite N305, Atlanta, GA 30322-4600, USA.

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http://dx.doi.org/10.1016/j.brainres.2005.06.078DOI Listing
September 2005