Results 91 to 100 of about 7,466 (201)

カベオリン異常症における特徴的な骨格筋MRI画像所見に関する検討 [PDF]

, 2019
博士(医学) 甲第702号(主論文の要旨、要約、審査結果の要旨、本文)，著者名:Kumiko IHIGURO・Takahiro NAKAYAMA・Masaru YOSHIOKA・Terumi MURAKAMI・Sachiko KAJINO・Minobu SHICHIJI・Takatoshi SATO・Naomi HINO-FUKUYO・Satoshi KURU・Makiko OSAWA・Satoru NAGATA・Mariko OKUBO・Nobuyuki MURAKAMI・Yukiko K ...
石黒 久美子
core   +2 more sources

Short Stature and Developmental Delay Associated With a Novel Frame‐Shift Mutation in ZNF292: Case Report and Literature Review

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co‐occurring autism spectrum disorder (ASD).
Li Dongxue, Yao Ruen, Yu Ying, Chen Liting, Wang Jie, Lu Chunjiao, Li Wei, Chen Rikun, Li Cuiyun   +8 more
wiley   +1 more source

Identifying the Diagnostic Challenges and Indicators of Orthostatic Tremor: Patient Perspectives

Movement Disorders Clinical Practice, Volume 12, Issue 8, Page 1124-1131, August 2025.
Abstract Background The diagnosis of orthostatic tremor (OT) is challenging because of its non‐specific symptoms and a broad range of differential diagnosis, resulting in a complex and lengthy diagnostic journey. Objective The aim was to assess the diagnostic delay in OT and to identify key clinical indicators as reported by patients.
Wietske A. Babeliowsky, Kiel Woodward, Bart Swinnen, Sarah Doss, Michael Muir, Rob M.A. de Bie, Diego R. Torres‐Russotto, Anne‐Fleur van Rootselaar   +7 more
wiley   +1 more source

An evaluation of seasonal variations in footwear worn by adults with inflammatory arthritis: a cross-sectional observational study using a web-based survey [PDF]

, 2014
Background: Foot problems are common in adults with inflammatory arthritis and therapeutic footwear can be effective in managing arthritic foot problems. Accessing appropriate footwear has been identified as a major barrier, resulting in poor adherence
A Brenton-Rule, A Bryman, A Williams, A Williams, AB Dufour, AE Williams, AE Williams, AE Williams, AE Williams, AE Williams, AJ Oppenheimer, Angela Brenton-Rule, B Alcacer-Pitarch, DD Nulty, E Hyslop, E Roddy, Georgina Barr, GJ Hendry, Gordon J Hendry, H Holman, HB Menz, HB Menz, J Woodburn, JR Kirwan, K Hennessy, K Rome, K Rome, K Rome, K Rome, K Rome, K Rome, Keith Rome, MJ Spink, N Martini, P Borman, P Helliwell, R Dahmen, RN Silvester, S Naidoo, S Otter, SA Wright, T Heiberg, VM Sue   +42 more
core   +3 more sources

Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14‐Associated Neurodegeneration: A Case Report and Literature Review

Movement Disorders Clinical Practice, Volume 13, Issue 2, Page 544-547, February 2026.
Rebecca Lindsay, Sangeetha Yoganathan, Wei Kang Lim, Pradeep Krishnan, Asif Doja, Sunita Venkateswaran, Julie Richer, Sara Breitbart, Nicole S.Y. Liang, Alfonso Fasano, George M. Ibrahim, Carolina Gorodetsky   +11 more
wiley   +1 more source

A Short Cognitive and Neuropsychiatric Assessment Scale for Progressive Supranuclear Palsy

Movement Disorders Clinical Practice, Volume 12, Issue 6, Page 764-774, June 2025.
Abstract Background Patients with Progressive Supranuclear Palsy (PSP) suffer from several neuropsychological impairments. These mainly affect the frontal lobe and subcortical brain structures. However, a scale for the assessment of cognitive and neuropsychiatric disability in PSP is still missing.
Sonja Porsche, Martin Klietz, Stephan Greten, Ines A. Piot, Ida Jensen, Florian Wegner, Lan Ye, Lea Krey, Matthias Höllerhage, Monika Pötter‐Nerger, Molly Zeitzschel, Keno Hagena, Jan Kassubek, Patrick Süß, Jürgen Winkler, Daniela Berg, Steffen Paschen, Lars Tönges, Doreen Gruber, Florin Gandor, Wolfgang H. Jost, Andrea A. Kühn, Inga Claus, Tobias Warnecke, David J. Pedrosa, Carsten Eggers, Claudia Trenkwalder, Joseph Classen, Johannes Schwarz, Alfons Schnitzler, Patricia Krause, Anja Schneider, Moritz Brandt, Björn Falkenburger, Inga Zerr, Mathias Bähr, Endy Weidinger, Johannes Levin, Sabrina Katzdobler, Emrah Düzel, Wenzel Glanz, Stefan Teipel, Ingo Kilimann, Johannes Prudlo, Thomas Gasser, Kathrin Brockmann, Annika Spottke, Anna Esser, Gabor C. Petzold, Gesine Respondek, Günter U. Höglinger   +50 more
wiley   +1 more source

Polimiosite : investigação clínica em duas irmãs [PDF]

, 2002
We present an investigation of a case of polymyositis affecting two sisters of one same parenthood. Their cases have been documented for almost two decades, being investigated by means of a diagnostic protocol which combined clinical findings as well as ...
Bluthner M, Bohan A, Bohan A, Bruno Rodrigues Veloso Costa, Dalakas MC, Dalakas MC, Garlepp MJ, Garlepp MJ, Ge Q, Hilário, MOE, Hokezu Y, Lewkonia RM, Margô Gomes de Oliveira Karnikowski, Matsui K, Miller FW, Miller FW, Oliveira HA, Oscar Francisco Sanchez Osella, Otávio de Tolêdo Nóbrega, Plotz PH, Rider LG, Scola RH   +21 more
core   +4 more sources

Expert Perspective: Diagnostic Approach to Differentiating Juvenile Dermatomyositis From Muscular Dystrophy

Arthritis &Rheumatology, Volume 77, Issue 5, Page 506-520, May 2025.
Clinical tools that can aid in the diagnostic differentiation of juvenile dermatomyositis from muscular dystrophy.
Jacqueline A. Madison, Sean P. Ferris, Marianne Kerski, Grace Hile, Sophia Matossian, Cara Komisar, Peter J. Strouse, Elizabeth Ames, Erin Neil Knierbein, Jessica L. Turnier   +9 more
wiley   +1 more source

Assessment of musculoskeletal abnormalities in children with mucopolysaccharidoses using pGALS [PDF]

, 2014
Background - Children with mucopolysaccharidoses (MPS) often have musculoskeletal (MSK) abnormalities. Paediatric Gait, Arms, Legs, and Spine (pGALS), is a simple MSK assessment validated in school-age children to detect abnormal joints.
Chan, Mercedes, Foster, Helen, Hardy, Elizabeth, Hensman, Pauline, Jones, Simon, Rapley, Timothy, Sen, Ethan, Wraith, Edmond   +7 more
core   +2 more sources

Neurodevelopment in preschool idiopathic toe-walkers

Neurología (English Edition), 2017
Introduction: Idiopathic toe walking, a differential diagnosis for neurological and orthopaedic disorders, has been associated with neurodevelopmental alterations.
P. Martín-Casas, R. Ballestero-Pérez, A. Meneses-Monroy, J.V. Beneit-Montesinos, M.A. Atín-Arratibel, J.A. Portellano-Pérez   +5 more
doaj   +1 more source