Results 151 to 160 of about 85,546 (259)

Novel Biallelic PLEKHG5 Variant Associated With Intermediate Charcot‐Marie‐Tooth Disease: Case Report From South America

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Biallelic pathogenic variants in PLEKHG5 are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot‐Marie‐Tooth disease type C (CMT). No South American cases have been previously reported.
Rafael Oliveira Vidon, Pedro José Tomaselli, Caroline Bittar‐Braune, Izabela Jardim Pitta, Glenda Corrêa Borges de Lacerda, Márcia Jardim   +5 more
wiley   +1 more source

Broadening the Clinical Spectrum of Axonal Hereditary Neuropathies: A Comparative Case Study on DNAJB2‐ and HINT1‐Related Disease

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Differentiating hereditary axonal polyneuropathies caused by distinct gene variants remains a clinical challenge. This comparative case study of DNAJB2‐ and HINT1‐related neuropathies aimed to broaden the phenotypic spectrum associated with these genes and to explore non‐motor symptoms and quality of life (QoL) in affected ...
Bogdan Bjelica, Corinna Hendrich, Sandra von Hardenberg, Milica Vukojevic, Sonja Körner, Thomas Gschwendtberger, Aiden Haghikia, Stojan Peric, Susanne Petri   +8 more
wiley   +1 more source

Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review. [PDF]

Front Genet
Yuan X, Lv Y, Wang X, Han B, Xie B.
europepmc   +1 more source

Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy

Neurology, 2016
J. Devaux, Y. Miura, Yuki Fukami, Takayuki Inoue, Constance Manso, M. Belghazi, K. Sekiguchi, N. Kokubun, H. Ichikawa, Anna Hiu Yi Wong, N. Yuki   +10 more
semanticscholar   +1 more source

Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Hereditary Transthyretin Amyloidosis Polyneuropathy

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims In individuals with hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, monitoring of disease progression and treatment response is crucial. The objective is to determine if serum neurofilament light chain (sNfL) and serum glial fibrillary acidic protein (sGFAP) are reliable biomarkers of ATTRv polyneuropathy ...
Valentin Loser, Pascal Benkert, Alex Vicino, Nicolas Ghika, Pansy Lim Dubois Ferrière, Chantal Daigneault, Thierry Kuntzer, Aleksandra Maleska Maceski, Jens Kuhle, Marie Théaudin   +9 more
wiley   +1 more source

Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims CMT1H is a rare, autosomal dominant, demyelinating subtype of CMT caused by variants in FBLN5. Symptomatic cranial nerve involvement has never been reported in patients with CMT1H. Case Report We report a 45‐year‐old woman with a history of long‐standing diplopia.
Georgios Koutsis, Zoi Kontogeorgiou, Charalampos Tzempetzis, Nikolaos Ragazos, Evgenia Efthymiou, Chrisoula Kartanou, Chrysoula Koniari, Nikolaos Giagkou, Klio Chatzistefanou, Georgios Velonakis, Georgia Karadima, Vasiliki Zouvelou   +11 more
wiley   +1 more source

Genetic risk of chronic pain conditions associated with risk of suicide death through an integrative analysis of EHR and genomics data. [PDF]

Transl Psychiatry
Han S, DiBlasi E, Monson ET, Shabalin AA, Baird L, Chen D, Lamichhane D, Tharp D, Ferris E, Yu Z, Brandon Callor W, Staley MJ, Li QS, Willour V, Crockett DK, Eilbeck K, Bakian AV, Keeshin BR, Okifuji A, Coon H, Docherty AR.   +20 more
europepmc   +1 more source

CIDP With and Without Monoclonal Gammopathy of Undetermined Significance (MGUS): Comparison of Clinical Phenotype, Diagnostic Features, and Treatment Response

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background and Aims Monoclonal gammopathy of undetermined significance (MGUS) occurs in some patients with chronic inflammatory demyelinating polyneuropathy (CIDP), but its impact on clinical phenotype and treatment response remains unclear.
R. van Veen, A. E. Baars, I. N. van Doorn, M. Michael, S. R. M. Bus, M. C. Broers, W. L. van der Pol, P. A. Van Doorn, J. Drenthen, C. Verhamme, J. M. I. Vos, I. N. van Schaik, H. S. Goedee, L. Wieske, B. C. Jacobs, F. Eftimov, for the ICOS Consortium   +16 more
wiley   +1 more source

Adult-Onset Still's Disease Presenting with Progressive Motor Neuropathy. [PDF]

Eur J Case Rep Intern Med
Freire AR, Santos N, Fernandes P, Moura D, Santos Silva A.   +4 more
europepmc   +1 more source

Adverse events associated with use of immunoglobulin in pediatric patients reported to the US Food and Drug Administration Adverse Event Reporting System, 2001–2023

Pediatric Allergy and Immunology, Volume 37, Issue 3, March 2026.
Abstract Background Immunoglobulin products are widely used for the treatment of immunodeficiency and autoimmune disorders. Although clinical trials have demonstrated their efficacy and tolerability, data describing their postmarketing safety profile in pediatric populations remain limited, particularly regarding rare and serious adverse events.
Shaokui Wei, Yeowon Kim, Mary N. Rubin, Srinivas S. Ayyala, Kerry Welsh   +4 more
wiley   +1 more source