Cargando…

The clinical heterogeneity of late-onset MELAS

Detalles Bibliográficos
Autores principales:	Atwal, H.K., Gass, J., Blackburn, P.R., Atwal, P.S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2017
Materias:	Correspondence
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394211/ https://www.ncbi.nlm.nih.gov/pubmed/28443237 http://dx.doi.org/10.1016/j.ymgmr.2017.04.003

Ejemplares similares

Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology
por: Gass, J., et al.
Publicado: (2017)

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
por: Sunde, Kiri, et al.
Publicado: (2016)

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

Low blood heteroplasmy-rate may cause late-onset MELAS()()()
por: Finsterer, Josef, et al.
Publicado: (2017)

Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation
por: Xu, Xue-Bi, et al.
Publicado: (2019)

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

Onset of MELAS due to the m.3243A > G mutation is early if the large phenotypic variability is considered()()
por: Finsterer, Josef, et al.
Publicado: (2016)

Late onset asymptomatic pancreatic neuroendocrine tumor – A case report on the phenotypic expansion for MEN1
por: Kaiwar, Charu, et al.
Publicado: (2017)

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer
por: Gass, Jennifer, et al.
Publicado: (2017)

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

Maple syrup urine disease: mechanisms and management
por: Blackburn, Patrick R, et al.
Publicado: (2017)

The Author Reply: Genetic Data Are a Prerequisite for Interpreting Clinical and Muscle Biopsy Findings in MELAS
por: Lee, Young-Mock
Publicado: (2019)

Co‐occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia
por: DeMeo, Natasha N., et al.
Publicado: (2017)

Expanded phenotype in a patient with spastic paraplegia 7
por: Gass, Jennifer, et al.
Publicado: (2017)

Whole Exome Sequencing Identifies Atypical Welander Distal Myopathy in Patient
por: Gass, Jennifer, et al.
Publicado: (2017)

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
por: Atwal, P.S., et al.
Publicado: (2015)

Particulate matter 2.5 induced hyperpigmentation in reconstructed human epidermis model (MelaKutis®)
por: Yang, Xiaojing, et al.
Publicado: (2022)

The Feasibility of Remote Patient Peer Mentoring in Hemodialysis
por: Bennett, Paul N., et al.
Publicado: (2022)

Late-onset Segmental Angioma Serpiginosum
por: Savant, Sushil S, et al.
Publicado: (2016)

A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency
por: Lara‐Velazquez, Montserrat, et al.
Publicado: (2017)

Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease()
por: Papadopoulos, C., et al.
Publicado: (2013)

Holocarboxylase synthetase deficiency pre and post newborn screening
por: Donti, Taraka R., et al.
Publicado: (2016)

Case report: A double pathogenic mutation in a patient with late-onset MELAS/PEO overlap syndrome
por: Zhao, Qiu Yan, et al.
Publicado: (2022)

Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum
por: Asha, Gowrappala Shanmukhappa, et al.
Publicado: (2016)

Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema
por: Harris, Antoneicka L., et al.
Publicado: (2018)

Elderly onset of MELAS in a male: A case report
por: Diao, Sheng-Peng, et al.
Publicado: (2022)

Late-Onset Neonatal Sepsis in a Patient with Covid-19
por: Coronado Munoz, Alvaro, et al.
Publicado: (2020)

Late-onset cutaneous eruption in hospitalized COVID-19 patients
por: Brazzelli, Valeria, et al.
Publicado: (2021)

LATE ONSET CALCIFICATION FOLLOWING JUVENILE DERMATOMYOSITIS: RESPONSE WITH WEEKLY ALENDRONATE
por: Kaliyadan, Feroze, et al.
Publicado: (2011)

Late-onset Juvenile Myoclonic Epilepsy or Frontal Lobe Epilepsy with Myoclonus
por: Zhang, Xin-Yue, et al.
Publicado: (2016)

Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report
por: Yokota, Yuki, et al.
Publicado: (2020)

Late-onset Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome in a 63-year-old Patient
por: Abdullah, Hassan, et al.
Publicado: (2020)

Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report
por: Wang, Ai, et al.
Publicado: (2023)

LATE ONSET NODULAR PRURIGO – THE SOLE AND INITIAL MANIFESTATION OF OCCULT HODGKIN'S DISEASE
por: Mehta, Vandana, et al.
Publicado: (2009)

Clinical and radiographic course of a patient with late-onset, rapidly progressive, MRI-negative myelitis after COVID-19 illness
por: Memon, Anza B., et al.
Publicado: (2022)

The Sanitary Aspect of "Melas."
Publicado: (1867)

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

Diagnosis of adult-onset MELAS with suspected recurrent strokes: A case report
por: Yang, Fei, et al.
Publicado: (2022)

Late Onset Skin Peeling Syndrome
por: Prasad, Smita, et al.
Publicado: (2016)

MELAS syndrome presenting as an acute surgical abdomen
por: Dindyal, S, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_rnjq7bgt1otl9km00etuhpnm1v