Results 31 to 40 of about 207,501 (305)

Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy

Human Mutation, Volume 43, Issue 12, Page 1898-1908, December 2022., 2022
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy Abstract MORC2 gene encodes a ubiquitously expressed nuclear protein involved in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous mutations in MORC2 gene have been associated with a spectrum of
Arnaud Jacquier, Shams Ribault, Michel Mendes, Nicolas Lacoste, Valérie Risson, Julien Carras, Philippe Latour, Aleksandra Nadaj‐Pakleza, Tanya Stojkovic, Laurent Schaeffer   +9 more
wiley   +1 more source

Ulnar Nerve Neuropathy After Surgery for Intraarticular Distal Humerus Fractures: An Analysis of 116 Patients [PDF]

, 2023
Purpose: To identify the incidence and the factors associated with a postoperative ulnar nerve neuropathy in patients who had undergone open reduction and internal fixation for intraarticular distal humerus fractures. Methods: We retrospectively reviewed
Imagama, Shiro, Oguchi, Takeshi, Oshika, Yasutaka, Takegami, Yasuhiko, Tokutake, Katsuhiro, Yokoyama, Hiroki   +5 more
core   +1 more source

Point-of-care ultrasound: a viable alternative for assessing ulnar neuropathy in rheumatoid arthritis? [PDF]

Journal of Ultrasonography
Azzam A, Mansy M, Ghazaly A, Al-Tamimy H.   +3 more
europepmc   +2 more sources

Ulnar Neuropathy at the Wrist [PDF]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2009
A case of ulnar nerve compression at the wrist within Guyon's canal is reported. The clinical presentation initially appeared consistent with an ulnar nerve entrapment at the elbow. The true diagnosis of an ulnar sensorimotor nerve lesion occurring within the canal of Guyon was made electrophysiologically.
Scott W. Wolfe, Carisa Pearce, Joseph H. Feinberg   +2 more
openaire   +3 more sources

MR neurography in ulnar neuropathy as surrogate parameter for the presence of disseminated neuropathy. [PDF]

PLoS ONE, 2012
PURPOSE: Patients with ulnar neuropathy of unclear etiology occasionally present with lesion extension from elbow to upper arm level on MRI. This study investigated whether MRI thereby distinguishes multifocal neuropathy from focal-compressive neuropathy
Philipp Bäumer, Markus Weiler, Maurice Ruetters, Frank Staub, Thomas Dombert, Sabine Heiland, Martin Bendszus, Mirko Pham   +7 more
doaj   +1 more source

A diagnostic score for anti‐myelin‐associated‐glycoprotein neuropathy or chronic inflammatory demyelinating polyradiculoneuropathy in patients with anti‐myelin‐associated‐glycoprotein antibody

European Journal of Neurology, Volume 30, Issue 2, Page 501-510, February 2023., 2023
In this study, Doneddu et al. developed a score that permitted an accurate discrimination, amongst patients with anti‐myelin‐associated‐glycoprotein (anti‐MAG) antibodies, of patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and patients with anti‐MAG neuropathy.
Pietro E. Doneddu, Marta Ruiz, Elisa Bianchi, Giuseppe Liberatore, Fiore Manganelli, Dario Cocito, Giuseppe Cosentino, Luana Benedetti, Girola A. Marfia, Massimiliano Filosto, Chiara Briani, Claudia Giannotta, Eduardo Nobile‐Orazio   +12 more
wiley   +1 more source

Statistical modeling of diabetic neuropathy: Exploring the dynamics of nerve mortality [PDF]

, 2023
Diabetic neuropathy is a disorder characterized by impaired nerve function and reduction of the number of epidermal nerve fibers per epidermal surface. Additionally, as neuropathy related nerve fiber loss and regrowth progresses over time, the two-dimensional spatial arrangement of the nerves becomes more clustered. These observations suggest that with
arxiv   +1 more source

Mutations in MYO9B are associated with Charcot–Marie–Tooth disease type 2 neuropathies and isolated optic atrophy

European Journal of Neurology, Volume 30, Issue 2, Page 511-526, February 2023., 2023
Abstract Background and purpose Charcot–Marie–Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying novel disease genes responsible for CMT2.
Silvia Cipriani, Marta Guerrero‐Valero, Stefano Tozza, Edward Zhao, Veith Vollmer, Danique Beijer, Matt Danzi, Cristina Rivellini, Dejan Lazarevic, Giovanni Battista Pipitone, Bianca Rose Grosz, Costanza Lamperti, Stefania Bianchi Marzoli, Paola Carrera, Marcella Devoto, Chiara Pisciotta, Davide Pareyson, Marina Kennerson, Stefano C. Previtali, Stephan Zuchner, Steven S. Scherer, Fiore Manganelli, Martin Bähler, Alessandra Bolino   +23 more
wiley   +1 more source

Acute small fiber neuropathy after Oxford‐AstraZeneca ChAdOx1‐S vaccination: A report of three cases and review of the literature

Journal of the Peripheral Nervous System, Volume 27, Issue 4, Page 325-329, December 2022., 2022
Abstract Small fiber neuropathy usually presents with gradual and progressive chronic length‐dependent pain. Acute small fiber neuropathy is rarely reported. Three patients with acute onset neuropathic pain after Oxford‐AstraZeneca ChAdOx1‐S vaccination are described.
Molly G. Abbott, Zahra Allawi, Monika Hofer, Olaf Ansorge, Stefen Brady, Ricardo Fadic, Gustavo Torres, Ravi Knight, Margarita Calvo, David L. H. Bennett, Andreas C. Themistocleous   +10 more
wiley   +1 more source

The diagnostic accuracy of the small fiber neuropathy symptoms inventory questionnaire (SFN‐SIQ) for identifying pure small fiber neuropathy

Journal of the Peripheral Nervous System, Volume 27, Issue 4, Page 283-290, December 2022., 2022
Abstract A definite diagnosis of pure small fiber neuropathy (SFN) relies on specific diagnostic testing, such as skin biopsy, quantitative sensory testing (QST), and nociceptive evoked potentials, which require considerable resources that may not be widely available.
Eleonora Galosi, Pietro Falco, Giuseppe Di Pietro, Caterina Leone, Nicoletta Esposito, Gianfranco De Stefano, Giulia Di Stefano, Andrea Truini   +7 more
wiley   +1 more source