Cargando…

Reply: Expanding the clinical and genetic spectrum of PCYT2-related disorders

Detalles Bibliográficos
Autores principales:	Vaz, Frédéric M, McDermott, John H, Engelen, Marc, Banka, Siddharth
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172623/ https://www.ncbi.nlm.nih.gov/pubmed/32889543 http://dx.doi.org/10.1093/brain/awaa230

Ejemplares similares

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
por: Vaz, Frédéric M, et al.
Publicado: (2019)

In Reply to “The Spectrum of Renal Abnormalities in Mitochondrial Disorders Is Broad”
por: Imasawa, Toshiyuki, et al.
Publicado: (2022)

Expanding the Spectrum of Polymerase Gamma-Related Ataxia
por: Gupta, Harsh Vardhan, et al.
Publicado: (2019)

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders
por: Berendse, Kevin, et al.
Publicado: (2014)

Liver X Receptor Agonists Inhibit the Phospholipid Regulatory Gene CTP: Phosphoethanolamine Cytidylyltransferase-Pcyt2
por: Zhu, Lin, et al.
Publicado: (2008)

In Reply — Neutralization of Fecal Aerosol-Laden SARS CoV-2: Public Health Implications
por: McDermott, Carmen V., et al.
Publicado: (2021)

PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism
por: Ludwig-Peisker, Odette, et al.
Publicado: (2022)

Authors’ reply
por: Murthy, Ramesh, et al.
Publicado: (2010)

Expanding the Phenotypic Spectrum of Olmsted Syndrome
por: Wilson, Neil J, et al.
Publicado: (2015)

Expanding the clinical spectrum of MTTF mutations
por: Barcia, Giulia, et al.
Publicado: (2019)

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias
por: Fournier, Clémence, et al.
Publicado: (2018)

CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders
por: Panda, Prateek K., et al.
Publicado: (2021)

Reply to “Initial Narrow- or Broad-spectrum Treatment for Meningoencephalitis”
por: Tanabe, Sho, et al.
Publicado: (2019)

Autism spectrum disorder today: not only genetics
por: Posar, Annio, et al.
Publicado: (2019)

Regulation of Phosphatidylethanolamine Homeostasis—The Critical Role of CTP:Phosphoethanolamine Cytidylyltransferase (Pcyt2)
por: Pavlovic, Zvezdan, et al.
Publicado: (2013)

Reply: Expanding Transcatheter Edge-to-Edge Mitral Valve Repair Indications: A Word of Caution
por: Wedin, Johan O., et al.
Publicado: (2022)

Expanded-spectrum β-Lactamase and Plasmid-mediated Quinolone Resistance
por: Poirel, Laurent, et al.
Publicado: (2007)

L-2-Hydroxyglutaric Aciduria: An Ever-Expanding Phenotypic Spectrum
por: Kamath, Sneha Dayanand, et al.
Publicado: (2023)

The authors reply
por: Hazzan, Marc, et al.
Publicado: (2020)

Dystonic Opisthotonus in Kufor-Rakeb Syndrome: Expanding the Phenotypic and Genotypic Spectrum
por: Gurram, Sandeep, et al.
Publicado: (2023)

Reply to: “Qualitative Evaluation of α-Synuclein: A Critical Step in Unravelling the Complexities of Autism Spectrum Disorder”
por: Al-Mazidi, Sarah H., et al.
Publicado: (2023)

Cancer Malignancy Is Correlated with Upregulation of PCYT2-Mediated Glycerol Phosphate Modification of α-Dystroglycan
por: Umezawa, Fumiko, et al.
Publicado: (2022)

Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder
por: Medico Salsench, Eva, et al.
Publicado: (2021)

Reply to the letter of Soliman et al. regarding ‘Randomised comparison of a balloon-expandable and self-expandable valve with quantitative assessment of aortic regurgitation using magnetic resonance imaging’
por: Kooistra, N. H. M., et al.
Publicado: (2020)

Reply
por: Harahsheh, Ashraf S., et al.
Publicado: (2020)

Genetic mechanism for the loss of PRAME in B cell lymphomas. Reply.
por: Takata, Katsuyoshi, et al.
Publicado: (2022)

Axonal Polyneuropathy in 2 Brothers With a Homozygous Missense Variant in the First Catalytic Domain of PCYT2
por: Leonardis, Lea, et al.
Publicado: (2022)

Reply: Sensorineural hearing loss in OPA1-linked disorders
por: Yu-Wai-Man, Patrick, et al.
Publicado: (2013)

Analyzing leukocyte telomere length in bipolar disorder: Authors’ reply
por: Barbé-Tuana, Florencia M., et al.
Publicado: (2017)

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
por: Ritelli, Marco, et al.
Publicado: (2017)

Reply to letter to the editor
por: McCarty, Sarah, et al.
Publicado: (2020)

Reply from authors: Sutureless valves—expanding the surgeon's toolbox
por: Dhanekula, Arjune S., et al.
Publicado: (2022)

High-grade childhood intra-parenchymal brain tumor clustering with ATRT and expanding the cancer spectrum related to inherited SMARCE1 truncating variations
por: Forest, Fabien, et al.
Publicado: (2022)

In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies
por: van Engelen, Nienke, et al.
Publicado: (2022)

Autism spectrum disorder: A mitochondrial disorder
por: FINSTERER, Josef
Publicado: (2021)

Genetic landscape of prognostic value in pancreas ductal adenocarcinoma microenvironment—reply
por: Pu, Ning, et al.
Publicado: (2020)

Reply
por: Thoresen, S.
Publicado: (1983)

Reply
por: Forrer, F., et al.
Publicado: (2007)

REPLY
por: Rao, A. Venkoba
Publicado: (2000)

REPLY
por: Malhotra, Savita
Publicado: (2000)

Cannot write session to /tmp/vufind_sessions/sess_vt6br98vlitjvn9aep4898lcdv