Results 101 to 110 of about 28,319 (230)

Human induced pluripotent stem cell line (FDHSi005-A) derived from a patient with a deep intronic variant in the GNE gene

Stem Cell Research
GlcNAc2-epimerase myopathy is a rare autosomal recessive myopathy characterized by distal involvement in the lower extremities. Our study reprogrammed human-induced pluripotent stem cells from peripheral blood mononuclear cells of a patient with GNE gene
Kexin Jiao, Jialong Zhang, Ningning Wang, Xingyu Gu, Xuechun Chang, Xingyu Xia, Bochen Zhu, Mingshi Gao, Nachuan Cheng, Chongbo Zhao, Jianying Xi, Wenhua Zhu   +11 more
doaj   +1 more source

Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the desmin mutation R350P [PDF]

, 2017
In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named ‘scapuloperoneal syndrome type Kaeser' (OMIM #181400).
Born, C., Bulst, S., Fischer, D., Frey, J. R., Huebner, A., Klutzny, U., Krause, K. H., Kress, W., Lochmüller, H., Reilich, P., Schoser, B. G., Schröder, R., Vorgerd, M., Walter, M. C.   +13 more
core  

The impact of SPARC on age-related cardiac dysfunction and fibrosis in Drosophila [PDF]

, 2018
Tissue fibrosis, an accumulation of extracellular matrix proteins such as collagen, accompanies cardiac ageing in humans and this is linked to an increased risk of cardiac failure.
Hartley, Paul S., Marley, Richard, Miellet, Sara, Vaughan, Leigh   +3 more
core   +1 more source

Immune‐Related Polyradiculoneuropathy Associated With Immune Checkpoint Inhibitors: A Comprehensive Case Series

Brain and Behavior, Volume 16, Issue 5, May 2026.
ABSTRACT Objective Immune‐related polyradiculoneuropathy (irPRN) is a rare but potentially severe neurological adverse event secondary to immune checkpoint inhibitors (ICIs), closely resembling Guillain–Barré syndrome. This study aims to characterize the clinical presentation, neurophysiological findings, therapeutic strategies, and clinical outcomes ...
A. Llauradó, E. Lainez, H. Ariño, M. Gratacòs‐Viñola, J. L. Seoane, M. Roca‐Herrera, J. L. Restrepo‐Vera, D. Sanchez‐Tejerina, N. Raguer, R. Juntas‐Morales   +9 more
wiley   +1 more source

Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies [PDF]

, 2008
Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement ...
JL De Bleecker, S Nakano, D Selcen, M Olive, R Schroder, KG Claeys, KG Claeys, LG Goldfarb, P Vicart, D Selcen, M Vorgerd, D Selcen, D Selcen, D Selcen, T Sato, M Ohlsson, R Schroder, M Olive, KM Forrest, HM McLaughlin, KG Claeys, M Olive, J Gamez, G Vattemi, J Palmio, G Pfeffer, A Dagvadorj, D Selcen, MC Walter, RA Kley, S Sacconi, P Pruszczyk, M Olive, T Yuri, K Strach, Z Odgerel, D Hong, C Hedberg, A Ariza, AM Munoz-Marmol, G Pinol-Ripoll, X Luan, MC Dalakas, M Henderson, R Izumi, F Jaffer, P Reilich, HC Lee, T Kraya, F Hanisch, D Fischer, MP Wattjes, PR Joshi, V Dubowitz, J Weis, F Sanger, N Vasli, T Sato, K Wahbi, RA Kley, A Pilotto   +60 more
core   +5 more sources

Polymorphic myopathological findings in a 77‐year‐old woman with oculo‐bulbo‐facial and distal weakness

Brain Pathology, EarlyView.
Michele Tosi, Angela Puma, Elena Faedo, Gianmarco Severa, Luisa Villa, Sabrina Sacconi, Edoardo Malfatti   +6 more
wiley   +1 more source

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP): A Comprehensive Review of Types, Pathophysiology, and Treatment Approaches

Brain and Behavior, Volume 16, Issue 5, May 2026.
Chronic inflammatory demyelinating polyneuropathy is an autoimmune disorder causing demyelination, leading to distal weakness, sensory loss, and autonomic dysfunction. Immune activation triggers macrophage‐mediated myelin damage and conduction failure.
Ayesha Khan, Arsal Khan, Kuldeep Dalpat Rai, Anzel Saeed, Harsh Kumar, Aneesh Kumar Sangtiani, Tehreem Fatima, Muhammad Tanveer Alam, Faiza Rajput, Sakshi Chawla, Hussain Haider Shah, Humaira Kalam   +11 more
wiley   +1 more source

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients [PDF]

, 2017
Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM), morphologically characterized by focal myofibrillar destruction and abnormal accumulation of several proteins within skeletal muscle fibres.
Brodherr, Turgut, Bruchertseifer, Vera, Eger, Katharina, Fischer, Dirk, Fürst, Dieter O., Germing, Alfried, Hellenbroich, Yorck, Heyer, Christoph M., Huebner, Angela, Ketelsen, Uwe-Peter, Kirschner, Janbernd, Kley, Rudolf A., Lochmüller, Hanns, Müller, Klaus, Peters, Sören A., Reum, Conny, Schröder, Rolf, Tolksdorf, Karen, van der Ven, Peter F. M., Vorgerd, Matthias, Walter, Maggie C.   +20 more
core  

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Guillain–Barré Syndrome After Malaria: A Case Report of a 7‐Year‐Old Child With Asymmetric Onset of Acute Motor Axonal Neuropathy

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT This case highlights that acute motor axonal neuropathy can present with asymmetric, relapsing weakness in children. In malaria‐endemic and resource‐limited settings, clinicians should consider atypical Guillain–Barré variants early, as timely recognition and treatment can significantly improve outcomes despite diagnostic and systemic ...
Muath Ibrahim Mohammed Abusaada, Mustafa Mohamed Ibrahim Ali, Muotaman Mohammed Abdalla Adam, Mohammed Hishameldeen Omer Ali, Mohamed Abdallah Mohamed Baraka, Amjad Ali Mohamedelhassan Bakheit, Khabab Abbasher Hussien Mohamed Ahmed, Isameldin Yousif Khidir Mohmed   +7 more
wiley   +1 more source