Results 41 to 50 of about 1,437,788 (262)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Classification of intervertebral disk degeneration with axial T2 mapping

, 2007
OBJECTIVE: The aim of this study was to establish an MRI classification system for intervertebral disks using axial T2 mapping, with a special focus on evaluating early degenerative intervertebral disks.
Anderson, Suzanne E, Boesch, Chris, Benneker, Lorin M, Watanabe, Tomoko, Obata, Takayuki, Watanabe, Atsuya   +5 more
core   +1 more source

Biopsy-based calibration of T2* magnetic resonance for estimation of liver iron concentration and comparison with R2 Ferriscan [PDF]

, 2014
There is a need to standardise non-invasive measurements of liver iron concentrations (LIC) so clear inferences can be drawn about body iron levels that are associated with hepatic and extra-hepatic complications of iron overload.
Alam, MH, Mohammed H Alam, He, T, Taigang He, Pennell, DJ, Gillian Smith, Carpenter, JP, Garbowski, MW, Dudley J Pennell, Maciej W Garbowski, John-Paul Carpenter, Porter, JB, John B Porter, Smith, G, Michael Roughton, Roughton, M   +15 more
core   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Correlation of MRI T2 mapping sequence with knee pain location in young patients with normal standard MRI

Journal of the Belgian Society of Radiology, 2014
'Objective: 'To assess the correlation of T2 mapping abnormalities to knee pain location, in young adults with normal standard knee MRI at 3.0 Tesla. 'Subjects and methods: 'Twenty-three consecutive patients were included prospectively from September ...
R Dautry, V J Bousson, J Manelfe, A Perozziello, P Boyer, Ph Loriaut, P Koch, A Silvestre, E Schouman-Claeys, J D Laredo, B Dallaudière   +10 more
doaj   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Optimization of Brain T2 Mapping Using Standard CPMG Sequence In A Clinical Scanner

Measurement Science Review, 2014
In magnetic resonance imaging, transverse relaxation time (T2) mapping is a useful quantitative tool enabling enhanced diagnostics of many brain pathologies. The aim of our study was to test the influence of different sequence parameters on calculated T2
Hnilicová P., Bittšanský M., Dobrota D.   +2 more
doaj   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Evaluation of Lumbar Intervertebral Disc and Facet Joint Degeneration Using Histogram Analysis of T2 and T2* Values

JOR Spine
Background Lumbar facet joint (LFJ) and intervertebral disc (IVD) degeneration are the common causes of low back pain. The aim of this study is to explore the feasibility of histogram analysis of T2 and T2* values on grading LFJ and IVD degeneration and ...
Xiaoqing Liang, Yitong Li, Bowen Hou, Yan Xiong, John Morelli, Weiyin Vivian Liu, Xiaoming Li   +6 more
doaj   +1 more source

Cardiovascular magnetic resonance T2* mapping for structural alterations in hypertrophic cardiomyopathy

European Journal of Radiology Open, 2019
Purpose: Hypertrophic cardiomyopathy (HCM) is characterized by a heterogeneous morphology and variable prognosis. A mismatch between left ventricular mass (LVM) and microvascular circulation with corresponding relative ischemia has been implicated to ...
Mareike Gastl, Alexander Gotschy, Jochen von Spiczak, Malgorzata Polacin, Florian Bönner, Christiane Gruner, Malte Kelm, Frank Ruschitzka, Hatem Alkadhi, Sebastian Kozerke, Robert Manka   +10 more
doaj   +1 more source