Results 131 to 140 of about 422,403 (261)

The Spinal Muscular Atrophy Disease Gene Product, SMN, and Its Associated Protein SIP1 Are in a Complex with Spliceosomal snRNP Proteins [PDF]

, 1997
Qing Liu, Utz Fischer, Fan Wang, Gideon Dreyfuss   +3 more
openalex   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Dynamic MR of Muscle Contraction During Electrical Muscle Stimulation: Potential Application to the Evaluation of Neuromuscular Diseases. [PDF]

NMR Biomed
Santini F, Croce MG, Deligianni X, Maggioni MB, Paoletti M, Barzaghi L, Bergsland N, Faggioli A, Manco G, Bonizzoni C, Jin N, Ravaglia S, Pichiecchio A.   +12 more
europepmc   +1 more source

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

Epidemiology and economic burden of selected rare genetic diseases in Germany - a claims database study. [PDF]

Orphanet J Rare Dis
Ludwig M, Alibone M, Norris R, Jacob J, Viskovic V, Cengia A, Obermüller D.   +6 more
europepmc   +1 more source

Micronutrient Deficiency and Muscular Status in Inflammatory Bowel Disease

Joonhee Han, Hyun Joo Song, Min‐Sook Kang, Hogyung Jun, Heung Up Kim, Ki Soo Kang, Donghyoun Lee   +6 more
openalex   +1 more source

Daratumumab Treatment for Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP): A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is an immune‐mediated neuropathy featuring progressive weakness, sensory deficits, and areflexia. While corticosteroids, intravenous immunoglobulin, and plasmapheresis are effective first‐line immunotherapies, a subset of patients remains treatment‐refractory.
Xueyu Zhang, Jianli Zhao, Xue Zhao, Xiaowei Hu, Zichun Xiao, Jie Wu, Xiaowen Li, Jing Xu, Yu‐Jing Li   +8 more
wiley   +1 more source

Muscle biopsy in Pompe disease Biópsia muscular na doença de Pompe

, 2013
Lineu César Werneck, Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Rosana Hermínia Scola   +3 more
openalex   +1 more source

Coexistence of Celiac Disease, Autism Spectrum Disorder and Duchenne Muscular Dystrophy: A Rare Case Report

Kübra Koçaklı
openalex   +1 more source

Spinal and bulbar muscular atrophy as a multisystem disease with motor neuron and muscle involvement: literature review and a case report

, 2020
Estelle Ivanova, E. Yu. Fedotov, С. Н. Иллариошкин   +2 more
openalex   +2 more sources