Cargando…

Commentary: New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2

Detalles Bibliográficos
Autor principal:	Finsterer, Josef
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Immunology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598496/ https://www.ncbi.nlm.nih.gov/pubmed/31293567 http://dx.doi.org/10.3389/fimmu.2019.01333

Ejemplares similares

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2
por: Endres, Dominique, et al.
Publicado: (2019)

Elimination of Mutant mtDNA by an Optimized mpTALEN Restores Differentiation Capacities of Heteroplasmic MELAS-iPSCs
por: Yahata, Naoki, et al.
Publicado: (2020)

Arrhythmias in MELAS syndrome
por: Finsterer, Josef, et al.
Publicado: (2016)

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk
por: Catucci, Irene, et al.
Publicado: (2016)

MELAS with multiple stroke‐like episodes due to the variant m.13513G>A in MT‐ND5
por: Ghosh, Ritwik, et al.
Publicado: (2022)

MELAS or Leigh syndrome, that’s the question
por: Finsterer, Josef
Publicado: (2021)

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations
por: Niel-Butschi, Florence, et al.
Publicado: (2011)

Phenotypic expression of the p.Leu1077Pro CFTR mutation in Sicilian cystic fibrosis patients
por: Parisi, Giuseppe Fabio, et al.
Publicado: (2013)

Interpreting the Mechanism of APOE (p.Leu167del) Mutation in the Incidence of Familial Hypercholesterolemia; An In-silico Approach
por: Rashidi, Omran Mohammed, et al.
Publicado: (2017)

Clinicopathological Features of Patients with the BRCA1 c.5339T>C (p.Leu1780Pro) Variant
por: Park, Hyung Seok, et al.
Publicado: (2020)

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
por: TU, Wei-Ting, et al.
Publicado: (2020)

PMEL p.Leu18del dilutes coat color of Kumamoto sub-breed of Japanese Brown cattle
por: Kimura, Satoshi, et al.
Publicado: (2022)

Commentary: Case report: Optic atrophy and nephropathy with m.13513G>A/MT-ND5 mtDNA pathogenic variant
por: Finsterer, Josef
Publicado: (2022)

MELAS syndrome due to the m.3291T > C mutation
por: Finsterer, Josef, et al.
Publicado: (2016)

Deterioration after Liver Transplantation and Transthyretin Stabilizer Administration in a Patient with ATTRv Amyloidosis with a Leu58Arg (p.Leu78Arg) TTR Variant
por: Hikishima, Sadao, et al.
Publicado: (2022)

Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations
por: Wang, Yangyang, et al.
Publicado: (2019)

A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt‐ND variants
por: Wang, Wei, et al.
Publicado: (2023)

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse
por: Filograna, R., et al.
Publicado: (2019)

A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
por: Tokuda, Naoki, et al.
Publicado: (2023)

Case Report: PROS1 (p.Leu584Arg) pathogenic mutation causes portal and superior mesenteric venous thromboembolism
por: Ding, Peng, et al.
Publicado: (2023)

Impaired Hearing in MELAS
por: Finsterer, Josef
Publicado: (2022)

Autoimmune Polyglandular Syndrome Type 1
por: Ponranjini, Vedeswari C., et al.
Publicado: (2012)

Multimodal dynamic response of the Buchnera aphidicola pLeu plasmid to variations in leucine demand of its host, the pea aphid Acyrthosiphon pisum
por: Viñuelas, José, et al.
Publicado: (2011)

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5
por: Yoshida, Kei, et al.
Publicado: (2021)

Commentary: Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
por: Finsterer, Josef
Publicado: (2019)

Phenotypic heterogeneity of MELAS()()
por: Finsterer, Josef, et al.
Publicado: (2016)

mt tRFs, New Players in MELAS Disease
por: Meseguer, Salvador, et al.
Publicado: (2022)

Rare Phenotypic Manifestations of MELAS
por: Finsterer, Josef
Publicado: (2020)

MELAS in a Walk-in Customer
por: Finsterer, Josef
Publicado: (2019)

Wernicke Encephalopathy Mimicking MELAS
por: Finsterer, Josef
Publicado: (2022)

Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3
por: Newstead, Shaundra M, et al.
Publicado: (2022)

Comments on “A Case of MELAS With the m.3243A>G Variant of the MT-TL1 Gene Mimicking Acute Intermittent Porphyria”
por: Finsterer, Josef
Publicado: (2022)

Association Between p.Leu54Met Polymorphism at the Paraoxonase-1 Gene and Plantar Fascia Thickness in Young Subjects With Type 1 Diabetes
por: Gallego, Patricia H., et al.
Publicado: (2008)

Hepatitis and the polyglandular autoimmune syndrome, type 1
por: Białkowska, Jolanta, et al.
Publicado: (2011)

Hypercalcemia in a patient with autoimmune polyglandular syndrome
por: Katsnelson, Svetlana, et al.
Publicado: (2012)

Autoimmune Polyglandular Syndrome Type 3 with Anorexia
por: Kahara, Toshio, et al.
Publicado: (2012)

Peculiarities of autoimmune polyglandular syndromes in children and adolescents
por: Zirilli, Giuseppina, et al.
Publicado: (2017)

Autoimmune Polyglandular Syndrome Presenting with Jaundice and Thrombocytopenia
por: Norasyikin, A.W., et al.
Publicado: (2014)

Coexistence of Schizophrenia, Epilepsy, and Polyglandular Autoimmune Syndrome
por: Özcan, Halil
Publicado: (2023)

Autoimmune Polyglandular Syndrome with Refractory Gait Disturbance
por: Takeuchi, Yosuke, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_gj02td65oqan1a6rfe8qadc7eu