Kether Guerrero

Kether Guerrero

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Kether Guerrero

Kether Guerrero

Publications by authors named "Kether Guerrero"

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15Publications

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Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

J Child Neurol 2019 Feb 28;34(2):74-80. Epub 2018 Nov 28.

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 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.

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

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

Am J Hum Genet 2018 04 22;102(4):676-684. Epub 2018 Mar 22.

Child Health and Human Development Program, Research Institute of the McGill University Health Center, Montreal, QC H4A 3J1, Canada; Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Canada; Department of Pediatrics, McGill University, Montreal, QC H4A 3J1, Canada; Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, QC H4A 3J1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5985283PMC
April 2018

Diffuse hypomyelination is not obligate for POLR3-related disorders.

Neurology 2016 Apr 30;86(17):1622-6. Epub 2016 Mar 30.

From the Laboratory of Neurogenetics of Motion (R.L.P.) and Department of Neuroradiology (R.L.P.), Montreal Neurological Institute and Hospital, and the Departments of Neurology and Neurosurgery (R.L.P., L.T.T., K.G., G.B.) and Pediatrics (R.L.P., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Departments of Child Neurology (F.K.C., M.S.v.d.K., N.I.W.) and Clinical Genetics (F.K.C., R.v.S.), VU University Medical Center, Amsterdam, the Netherlands; Department of Genetics (K.Õ.) United Laboratories, Tartu University Hospital, Tartu; Department of Pediatrics (K.Õ.), University of Tartu, Estonia; Institute of Human Genetics (T.H.), Technische Universität München; Institute of Human Genetics (T.H.), Helmholtz Zentrum München, Munich, Germany; Department of Neurology (E.W.), Birmingham Children's Hospital, UK; Department of Neurology (D.T.), University Clinic Essen, University of Duisburg-Essen, Germany; Department of Child and Adolescent Neurology (H.M.), Institute of Mother and Child, Warsaw, Poland; Department of Child Neurology (B.T.P.), AMC Academic Medical Center, Amsterdam, the Netherlands; West Midlands Regional Clinical Genetics Unit (C.P., H.C.), Birmingham Women's Hospital, UK; Departments of Pediatrics (T.A.) and Medical Genetics (H.O.), Faculty of Medicine (F.O.), Ege University, Izmir, Turkey; Department of Neurology (A.V.), Children's National Health System, Washington, DC; Neuroscience Campus Amsterdam (M.S.v.d.K., N.I.W.), the Netherlands; and Department of Medical Genetics (G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000002612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4844237PMC
April 2016

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Neuropediatrics 2015 Jun 8;46(3):221-8. Epub 2015 May 8.

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

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0035-1550148
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http://dx.doi.org/10.1055/s-0035-1550148DOI Listing
June 2015

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

Orphanet J Rare Dis 2015 Jun 5;10:69. Epub 2015 Jun 5.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 1001 Boulevard Décarie, Montréal, QC, H4A 3J1, Canada.

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http://dx.doi.org/10.1186/s13023-015-0279-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520020PMC
June 2015

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.

Neuropediatrics 2014 Dec 24;45(6):406-10. Epub 2014 Oct 24.

Division of Pediatric Neurology, Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, Montreal, Canada.

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http://dx.doi.org/10.1055/s-0034-1393710DOI Listing
December 2014

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.

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

A homozygous mutation in the NDUFS1 gene presents with a mild cavitating leukoencephalopathy.

Neurogenetics 2014 Aug 21;15(3):161-4. Epub 2014 Jun 21.

Departments of Pediatrics, Neurology and Neurosurgery, Montreal Children's Hospital, McGill University Health Center, 2300 Tupper Street, Montreal, QC, H3H 1P3, Canada,

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http://dx.doi.org/10.1007/s10048-014-0412-2DOI Listing
August 2014

A novel genome-based approach correlates TMPRSS3 overexpression in ovarian cancer with DNA hypomethylation.

Gynecol Oncol 2012 Jun 21;125(3):720-6. Epub 2012 Mar 21.

Department of Molecular Medicine, Laval University, Québec (Québec), Canada.

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http://dx.doi.org/10.1016/j.ygyno.2012.03.026DOI Listing
June 2012