Dmitriy Niyazov

Dmitriy Niyazov

UNVERIFIED PROFILE

Are you Dmitriy Niyazov?   Register this Author

Register author
Dmitriy Niyazov

Dmitriy Niyazov

Publications by authors named "Dmitriy Niyazov"

Are you Dmitriy Niyazov?   Register this Author

32Publications

1079Reads

42Profile Views

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.

Hum Genet 2019 Sep 25. Epub 2019 Sep 25.

Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-019-02065-xDOI Listing
September 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.

View Article

Download full-text PDF

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

Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).

Neurol Genet 2018 08 1;4(4):e262. Epub 2018 Aug 1.

Genome Damage and Stability Centre (G.Z-V., K.W.C.), University of Sussex, Falmer, Brighton, United Kingdom; Wellcome Centre for Mitochondrial Research (F.B., K.T., L.H., R.T.), Institute of Neuroscience, Newcastle University, Tyne, United Kingdom; Sussex Drug Discovery Centre (S.W.), University of Sussex, Falmer, Brighton, United Kingdom; Department of Human Genetics (A.P.M.d.B.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; and Medical Genetics (A.P.M.d.B., D.N.), Ochsner Health Center for Children, New Orleans, LA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089694PMC
August 2018

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease.

Ochsner J 2018 ;18(4):413-416

Department of Pediatrics, Ochsner Hospital for Children, Ochsner Clinic Foundation, New Orleans, LA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31486/toj.18.0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292475PMC
January 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.

View Article

Download full-text PDF

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

Mitochondrial Dysfunction in a Patient with 8q21.11 Deletion and Charcot-Marie-Tooth Disease Type 2K due to GDAP1 Haploinsufficiency.

Mol Syndromol 2015 Oct 18;6(4):204-6. Epub 2015 Sep 18.

Department of Pediatrics, Ochsner Clinic Foundation, New Orleans, La., USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000440660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4662286PMC
October 2015

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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