Cargando…

Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

OBJECTIVE: This work aims to expand knowledge regarding the genetic spectrum of HSPB1‐related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT) disease type 2F and distal hereditary motor neuropathy...

Descripción completa

Detalles Bibliográficos
Autores principales:	Abati, Elena, Magri, Stefania, Meneri, Megi, Manenti, Giulia, Velardo, Daniele, Balistreri, Francesca, Pisciotta, Chiara, Saveri, Paola, Bresolin, Nereo, Comi, Giacomo Pietro, Ronchi, Dario, Pareyson, Davide, Taroni, Franco, Corti, Stefania
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Case Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108422/ https://www.ncbi.nlm.nih.gov/pubmed/33943041 http://dx.doi.org/10.1002/acn3.51364

Ejemplares similares

DNAJB2‐related Charcot‐Marie‐Tooth disease type 2: Pathomechanism insights and phenotypic spectrum widening
por: Saveri, Paola, et al.
Publicado: (2022)

Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives
por: Pisciotta, Chiara, et al.
Publicado: (2021)

Hyperacute extensive spinal cord infarction and negative spine magnetic resonance imaging: a case report and review of the literature
por: Costamagna, Gianluca, et al.
Publicado: (2020)

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature
por: Gagliardi, Delia, et al.
Publicado: (2019)

Diagnostic and Prognostic Role of Blood and Cerebrospinal Fluid and Blood Neurofilaments in Amyotrophic Lateral Sclerosis: A Review of the Literature
por: Gagliardi, Delia, et al.
Publicado: (2019)

Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy
por: Gagliardi, Delia, et al.
Publicado: (2021)

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation
por: Saveri, Paola, et al.
Publicado: (2020)

Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients
por: Faravelli, Irene, et al.
Publicado: (2020)

Expanding the clinical spectrum of the mitochondrial mutation A13084T in the ND5 gene
por: Brusa, Roberta, et al.
Publicado: (2020)

Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic
por: Costamagna, Gianluca, et al.
Publicado: (2020)

Newly Diagnosed Hepatic Encephalopathy Presenting as Non-convulsive Status Epilepticus: A Case Report and Literature Review
por: Olivero, Marco, et al.
Publicado: (2022)

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation
por: Scarcella, Simone, et al.
Publicado: (2023)

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A
por: Rizzo, Federica, et al.
Publicado: (2023)

Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2022)

Central Nervous System Involvement in Common Variable Immunodeficiency: A Case of Acute Unilateral Optic Neuritis in a 26-Year-Old Italian Patient
por: Abati, Elena, et al.
Publicado: (2018)

Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2023)

Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease
por: Bellofatto, Marta, et al.
Publicado: (2023)

Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian Family
por: Gagliardi, Delia, et al.
Publicado: (2021)

Increased Monomerization of Mutant HSPB1 Leads to Protein Hyperactivity in Charcot-Marie-Tooth Neuropathy
por: Almeida-Souza, Leonardo, et al.
Publicado: (2010)

Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical Progression
por: Manini, Arianna, et al.
Publicado: (2022)

New Insights into Cerebral Vessel Disease Landscapes at Single-Cell Resolution: Pathogenetic and Therapeutic Perspectives
por: Meneri, Megi, et al.
Publicado: (2022)

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions
por: Nasca, Alessia, et al.
Publicado: (2022)

Unraveling the Neurological Complexity of Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal Protein, and Skin Changes Syndrome: A Report of a Challenging Case of a Young Woman and Cutting-Edge Advancements in the Field
por: Furciniti, Gioconda, et al.
Publicado: (2023)

Charcot–Marie–Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilaments
por: Holmgren, Anne, et al.
Publicado: (2013)

Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry
por: Bellofatto, Marta, et al.
Publicado: (2022)

NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients
por: Manini, Arianna, et al.
Publicado: (2023)

Animal Models of CMT2A: State-of-art and Therapeutic Implications
por: De Gioia, Roberta, et al.
Publicado: (2020)

Ophthalmoplegia Due to Miller Fisher Syndrome in a Patient With Myasthenia Gravis
por: Brusa, Roberta, et al.
Publicado: (2019)

Vitamin C and Charcot–Marie–Tooth 1A: Pharmacokinetic considerations
por: Visioli, F., et al.
Publicado: (2013)

Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis
por: Manini, Arianna, et al.
Publicado: (2022)

Identification of Novel Biomarkers of Spinal Muscular Atrophy and Therapeutic Response by Proteomic and Metabolomic Profiling of Human Biological Fluid Samples
por: Meneri, Megi, et al.
Publicado: (2023)

MicroRNAs as regulators of cell death mechanisms in amyotrophic lateral sclerosis
por: Gagliardi, Delia, et al.
Publicado: (2019)

Extracellular vesicles and amyotrophic lateral sclerosis: from misfolded protein vehicles to promising clinical biomarkers
por: Gagliardi, Delia, et al.
Publicado: (2020)

Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study
por: Gagliardi, Delia, et al.
Publicado: (2021)

Neural Stem Cell Transplantation for Neurodegenerative Diseases
por: De Gioia, Roberta, et al.
Publicado: (2020)

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies
por: Piga, Daniela, et al.
Publicado: (2019)

Mitochondrial Fusion Proteins and Human Diseases
por: Ranieri, Michela, et al.
Publicado: (2013)

A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformations
por: Lanfranconi, Silvia, et al.
Publicado: (2014)

Advancing Stroke Research on Cerebral Thrombi with Omic Technologies
por: Costamagna, Gianluca, et al.
Publicado: (2023)

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
por: Abati, Elena, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_dbj00h2br4aqf19fgfbasd6irp