Cargando…

3-Methylglutaconic Aciduria Type I: A Rare Cause of Late-Onset Leukoencephalopathy

Detalles Bibliográficos
Autores principales:	Benzoni, Chiara, Magri, Stefania, Moscatelli, Marco, Fenu, Silvia, Caccia, Claudio, Taroni, Franco, Salsano, Ettore, Di Bella, Daniela
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2022
Materias:	NeuroImage
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453697/ https://www.ncbi.nlm.nih.gov/pubmed/36092981 http://dx.doi.org/10.1212/NXG.0000000000200023

Ejemplares similares

The 3-methylglutaconic acidurias: what’s new?
por: Wortmann, Saskia B., et al.
Publicado: (2010)

Progressive Neurologic Symptoms in the Setting of HIV: A Rare Case of Neurosymptomatic CSF HIV Escape
por: Eisenmenger, Laura B., et al.
Publicado: (2021)

Brainstem Infarction and Vertebral Artery Vasculopathy After Ramsay Hunt Syndrome
por: Sun, Huiying, et al.
Publicado: (2022)

Complete Agenesis of Corpus Callosum in KCNQ2-Related Neonatal Epileptic Encephalopathy
por: Licchetta, Laura, et al.
Publicado: (2022)

Adult‐onset leukoencephalopathy caused by CSF1R mutations: Is all that glitters gold?
por: Salsano, Ettore, et al.
Publicado: (2022)

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria
por: Oláhová, Monika, et al.
Publicado: (2016)

Reversible frontotemporal brain sagging syndrome
por: Slattery, Catherine F., et al.
Publicado: (2015)

Holmes Tremor Secondary to a Stabbing Lesion in the Midbrain
por: Cury, Rubens Gisbert, et al.
Publicado: (2017)

Characterizing Orthostatic Tremor Using a Smartphone Application
por: Balachandar, Arjun, et al.
Publicado: (2017)

Acute Cerebellar Ataxia Associated with Modest Elevation of Anti-GAD Antibodies in a Young Patient
por: Gomez, Juliana, et al.
Publicado: (2019)

Cutaneous Lesions as a Clue to the Etiology of Extensive Intracranial Calcifications: Aicardi-Goutières Syndrome
por: Zeng, Yi-Heng, et al.
Publicado: (2022)

Cyclosporine-induced Leukoencephalopathy Precipitated Following Interaction with Ciprofloxacin
por: Nagabushana, Divya, et al.
Publicado: (2021)

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
por: Selvanathan, Arthavan, et al.
Publicado: (2022)

Acute Encephalopathic Presentation of 3-Methylglutaconic Aciduria Type I With a Novel Mutation in AUH Gene
por: Dudipala, Sai Chandar, et al.
Publicado: (2020)

Progressive multifocal leukoencephalopathy: MRI findings in HIV-infected patients are closer to rituximab- than natalizumab-associated PML
por: Alleg, Manel, et al.
Publicado: (2020)

Structural basis of impaired disaggregase function in the oxidation-sensitive SKD3 mutant causing 3-methylglutaconic aciduria
por: Lee, Sukyeong, et al.
Publicado: (2023)

Sudden-onset headache due to reversible cerebral vasoconstriction syndrome
por: Goto, Jion, et al.
Publicado: (2023)

Two novel compound heterozygous mutations in OPA3 in two siblings with OPA3-related 3-methylglutaconic aciduria
por: Lam, Christina, et al.
Publicado: (2014)

Iron‐sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3‐methylglutaconic aciduria
por: Coelho, Margarida Paiva, et al.
Publicado: (2019)

Delayed onset hypokinetic-rigid syndrome due to hypoxic-ischemic damage of the striatum
por: Moudrous, Walid, et al.
Publicado: (2016)

Skd3 (human ClpB) is a potent mitochondrial protein disaggregase that is inactivated by 3-methylglutaconic aciduria-linked mutations
por: Cupo, Ryan R, et al.
Publicado: (2020)

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
por: Nardecchia, Francesca, et al.
Publicado: (2022)

Structural and functional characterization of the locus coeruleus in young and late middle-aged individuals
por: Berger, Alexandre, et al.
Publicado: (2023)

Precocious puberty in a girl with 3-methylglutaconic aciduria type 1 (3-MGA-I) due to a novel AUH gene mutation
por: Bizjak, Neli, et al.
Publicado: (2020)

Pattern and degree of individual brain atrophy predicts dementia onset in dominantly inherited Alzheimer's disease
por: Keret, Ophir, et al.
Publicado: (2021)

Automated seizure onset zone locator from resting-state functional MRI in drug-resistant epilepsy
por: Banerjee, Ayan, et al.
Publicado: (2023)

Isomerization of trans‐3‐methylglutaconic acid
por: Jones, Dylan E., et al.
Publicado: (2020)

Resting-state fMRI can detect alterations in seizure onset and spread regions in patients with non-lesional epilepsy: a pilot study
por: Sathe, Anish V., et al.
Publicado: (2023)

Progressive multifocal leukoencephalopathy in non-HIV patient
por: Vieira, Diego Rosseman, et al.
Publicado: (2016)

Chlorfenapyr-Induced Toxic Leukoencephalopathy with Radiologic Reversibility: A Case Report and Literature Review
por: Baek, Byung Hyun, et al.
Publicado: (2016)

A rare inborn error of metabolism associated with a Dandy–Walker malformation
por: Manel, Limeme, et al.
Publicado: (2012)

Neurenteric Cyst: Magnetic Resonance Imaging Findings in an Adolescent
por: Singh, Paramdeep, et al.
Publicado: (2017)

Magnetic resonance imaging features of gelatinous pseudocysts in cryptococcal meningoencephalitis
por: Zhang, Ping, et al.
Publicado: (2018)

COVID-19-Associated Acute Multi-infarct Encephalopathy in an Asymptomatic CADASIL Patient
por: Zhang, Tianshu, et al.
Publicado: (2020)

A unique MRI-pattern in alcohol-associated Wernicke encephalopathy
por: Eren, Ozan E., et al.
Publicado: (2020)

Cerebral intraparenchymal extramedullary hematopoiesis in polycythemia vera
por: Boban, Jasmina, et al.
Publicado: (2019)

A Young Woman Presenting with Encephalopathy: A Case Report
por: Kofler, Mario, et al.
Publicado: (2019)

Inter-observer reproducibility of quantitative dynamic susceptibility contrast and diffusion MRI parameters in histogram analysis of gliomas
por: Dijkstra, Hildebrand, et al.
Publicado: (2019)

Hyperkinesias and Echolalia in Primary Familial Brain Calcification
por: Paucar, Martin, et al.
Publicado: (2020)

Visualizing the autonomic and somatic innervation of the female pelvis with 3D MR neurography: a feasibility study
por: De Paepe, Katja N, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_nkgb5ge94n91uf9mi9gpdco6mn