过去一年中添加的文章,按日期排序

CGG/CCG Repeat Expansions in LOC642361/NUTM2B-AS1 in Thai Patients With Oculopharyngodistal Myopathy

S Pongpakdee, M Apiwattanakul… - Neurology …, 2024 - neurology.org
2 天前 - … reported in 1 family with oculopharyngeal myopathy with leukoencephalopathy (OPML). …
evidence of distal myopathy, with or without minimal white matter change on brain MRI. …

Three novel missense variants in two families with JAG2-associated limb-girdle muscular dystrophy

L Dofash, K Lyengar, N Pereira, J Parmar… - Neuromuscular …, 2024 - Elsevier
5 天前 - … limb-girdle-like myopathy with difficulty or inability walking. MRI revealed widespread
torso and … In absence of functional assays to characterise JAG2 variants, clinical, MRI and …

Diabetic myonecrosis complicated by emphysematous pyomyositis and abscess caused by Escherichia coli: a case report

AM Kerola, KK Eklund, H Valleala, O Tynninen… - Journal of Medical Case …, 2024 - Springer
10 天前 - Magnetic resonance imaging of her lower limb muscles showed extensive edema,
and muscle biopsy was suggestive of necrotizing myopathy … -mediated necrotizing myopathy, …

[PDF][PDF] A Curious Case of Weakness: Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Presenting With Muscle Weakness

OC Okoye, S Paudyal, SE Iriza, J Wilson, S Iriza - Cureus, 2024 - cureus.com
12 天前 - … Muscle weakness and inflammatory myopathy are rare manifestations of AAV. We
report the … Lower extremity MRI showed diffuse intramuscular edema between fat planes and …

Pembrolizumab-associated myositis with striking extraocular muscle contrast enhancement

L Van Doeselaer, S Nicolay, W De Ridder - Acta Neurologica Belgica, 2024 - Springer
12 天前 - … A cardiac MRI was not performed because of orthopnoea and need for continuous
non-… A brain MRI showed marked patchy, pathological contrast enhancement of extraocular …

Identification of a novel compound heterozygous mutation in RyR1 gene in an Indian family affected with congenital myopathy

L Kirola, D Joshi, M Tapadia, T Murayama… - Authorea …, 2024 - techrxiv.org
15 天前 - … an early age of onset of congenital myopathies and it is always … CCD has an onset
similar to congenital myopathies. … The muscle MRI showed generalized atrophy of muscles of …

Editorial Comment: Muscle Imaging Decoded for Radiologists at Every Level

NJ Bureau - American Journal of Roentgenology, 2024 - ajronline.org
21 天前 - MRI stands out for its excellent soft tissue resolution and … Traditionally, qualitative
MRI has been a critical tool in … for imaging idiopathic inflammatory myopathies. Inclusion of …

Editorial Comment: An Updated Review of Myositis Worth Bookmarking

L Ladd - American Journal of Roentgenology, 2024 - ajronline.org
21 天前 - … finding on musculoskeletal MRI. Although traumatic … , referred to as idiopathic
inflammatory myopathies (IIMs), are … Centre workshop recently added MRI to the recommended …

Case report: A patient with brachio-cervical inflammatory myopathy was misdiagnosed as flail arm syndrome

H Sun, XJ Wei, Y Han, YC Wang, ZY Wang… - Frontiers in …, 2024 - frontiersin.org
23 天前 - … to a generalized inflammatory myopathy at a later stage as the disease progresses.
… type of inflammatory myopathy with sequential involvement of sites. MRI characterization of …

[PDF][PDF] Novel loss-of-function variants expand ABCC9–related Intellectual disability Myopathy Syndrome (AIMS) P10. 056. C

Q Thomas23, MF Smeland - researchgate.net
27 天前 - … (ad) Brain MRI performed in Patient 1-1 at 15 years of age, … (eh) Brain MRI performed
in Patient 3-1 at 9 months of age, … (mp) Brain MRI performed in Patient 5-1 at 10 months of …