Cargando…

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

OBJECTIVE: High-resolution nerve ultrasound (HRUS) is a painless tool to quickly evaluate peripheral nerve morphology in vivo. This study set out to characterize peripheral nerve involvement in X-linked adrenomyeloneuropathy (AMN) by HRUS. METHODS: Thirteen adults with genetically proven AMN were ex...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rattay, Tim W., Just, Jennifer, Röben, Benjamin, Hengel, Holger, Schüle, Rebecca, Synofzik, Matthis, Söhn, Anne S., Winter, Natalie, Dammeier, Nele, Schöls, Ludger, Grimm, Alexander
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215661/ https://www.ncbi.nlm.nih.gov/pubmed/30390710 http://dx.doi.org/10.1186/s13023-018-0939-7

Ejemplares similares

Serum neurofilament light chain is increased in hereditary spastic paraplegias
por: Wilke, Carlo, et al.
Publicado: (2018)

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4
por: Kessler, Christoph, et al.
Publicado: (2022)

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias
por: Bis, Dana M., et al.
Publicado: (2017)

Defining diagnostic cutoffs in neurological patients for serum very long chain fatty acids (VLCFA) in genetically confirmed X-Adrenoleukodystrophy
por: Rattay, Tim W., et al.
Publicado: (2020)

Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation
por: Thal, Dietmar R., et al.
Publicado: (2015)

Short-read genome sequencing allows ‘en route’ diagnosis of patients with atypical Friedreich ataxia
por: Fleszar, Zofia, et al.
Publicado: (2023)

Absence of EEG correlates of self-referential processing depth in ALS
por: Fomina, Tatiana, et al.
Publicado: (2017)

Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools
por: Synofzik, Matthis, et al.
Publicado: (2016)

AP5Z1/SPG48 frequency in autosomal recessive and sporadic spastic paraplegia
por: Schlipf, Nina A, et al.
Publicado: (2014)

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study
por: Gonsior, Kathrin, et al.
Publicado: (2020)

The 2022 AMN Virtual Congress – Day 2
por: Dobran, Stefana-Andrada, et al.
Publicado: (2022)

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia
por: Kessler, Christoph, et al.
Publicado: (2021)

STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations
por: Hayer, Stefanie Nicole, et al.
Publicado: (2017)

Home‐based biofeedback speech treatment improves dysarthria in repeat‐expansion SCAs
por: Vogel, Adam P., et al.
Publicado: (2022)

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
por: Synofzik, Matthis, et al.
Publicado: (2014)

Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1
por: Bonifert, Tobias, et al.
Publicado: (2016)

Acute macular neuroretinopathy (AMN) following COVID-19 vaccination
por: Drüke, Daniela, et al.
Publicado: (2021)

Real‐time use of audio‐biofeedback can improve postural sway in patients with degenerative ataxia
por: Fleszar, Zofia, et al.
Publicado: (2018)

AMN107 (nilotinib): a novel and selective inhibitor of BCR-ABL
por: Weisberg, E, et al.
Publicado: (2006)

Amn1 governs post-mitotic cell separation in Saccharomyces cerevisiae
por: Fang, Ou, et al.
Publicado: (2018)

The 2022 Academy for Multidisciplinary Neurotraumatology (AMN) Virtual Congress – Day 1
por: Dobran, Stefana-Andrada, et al.
Publicado: (2022)

Chromium and cobalt intoxication mimicking mitochondriopathy
por: Rattay, Tim W., et al.
Publicado: (2021)

Correction: AMN107 (nilotinib): a novel and selective inhibitor of BCR-ABL
por: Weisberg, E, et al.
Publicado: (2019)

The birth of neurotrauma: a historical perspective from the Academy of Multidisciplinary Neurotraumatology (AMN)
por: Muresanu, Dafin, et al.
Publicado: (2021)

AMN Congress 2022 – Report of the panel on minimizing the risks of failure in TBI research
por: Gherman, Alexandra-Mihaela, et al.
Publicado: (2022)

AMN Congress 2022 – Report of the panel on the future focus of the Academy for Multidisciplinary Neurotraumatology
por: Gherman, Alexandra-Mihaela, et al.
Publicado: (2022)

The Academy for Multidisciplinary Neurotraumatology (AMN) Congress 2023: 20 Years of Excellence in Neurotraumatology
por: Dobran, Stefana-Andrada, et al.
Publicado: (2023)

COVID-19 Related Acute Macular Neuroretinopathy (AMN): A Case Series
por: Vu, Truong Andy, et al.
Publicado: (2023)

Detection of spinal long fiber tract degeneration in HSP: Improved diffusion tensor imaging
por: Lindig, Tobias, et al.
Publicado: (2022)

Solving unsolved rare neurological diseases—a Solve-RD viewpoint
por: Schüle, Rebecca, et al.
Publicado: (2021)

Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort
por: Krüger, Stefanie, et al.
Publicado: (2016)

Nerve Imaging, Electrodiagnostics, and Clinical Examination — Three Musketeers to Differentiate Polyneuropathies
por: Winter, Natalie, et al.
Publicado: (2022)

Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report
por: Sharkia, Rajech, et al.
Publicado: (2016)

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
por: Röeben, Benjamin, et al.
Publicado: (2017)

Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
por: Park, Joohyun, et al.
Publicado: (2021)

TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2
por: Bux, Jessica, et al.
Publicado: (2023)

dCubilin- or dAMN-mediated protein reabsorption in Drosophila nephrocytes modulates longevity
por: Feng, Xiaoming, et al.
Publicado: (2021)

The neuroprotective effects of AMN082 on neuronal apoptosis in rats after traumatic brain injury
por: Lu, Chung-Che, et al.
Publicado: (2021)

AMN Congress 2022 – Report of the panel on the effective treatment solutions for post-TBI cognitive problems
por: Gherman, Alexandra-Mihaela, et al.
Publicado: (2022)

Nerve Ultrasound as Helpful Tool in Polyneuropathies
por: Kramer, Magdalena, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_k3h9q5sggcvvv7tbbk016ks2jl