Results 71 to 80 of about 103,657 (199)
Summary A 2‐year‐old Arabian filly presented with acute onset grade 4/5 (AAEP) right forelimb lameness and hindlimb ataxia following a collision with another horse and subsequent fall. The right forelimb lameness was associated with marked scapulohumeral joint instability.
O. E. Newman, B. Dunkel, M. Perrier
wiley +1 more source
Ulnar neuropathy at the elbow (UNE) is the second most commonly encountered entrapment neuropathy after carpal tunnel syndrome. The term “cubital tunnel” syndrome is sometimes used to refer to UNE, but this is misleading as the term accurately describes ...
Benatar, Michael
core +1 more source
Progressive auditory neuropathy in patients with Leber's hereditary optic neuropathy [PDF]
Objective: To investigate auditory neural involvement in patients with Leber's hereditary optic neuropathy (LHON).Methods: Auditory assessment was undertaken in two patients with LHON.
Luxon, LM, Ceranic, B
core
Early‐Onset Wild‐Type Transthyretin Amyloidosis Polyneuropathy
Muscle &Nerve, EarlyView.
Chafic Karam +7 more
wiley +1 more source
ABSTRACT Background and Aims Gain‐of‐function variants in SCN9A, encoding the Nav1.7 sodium channel, cause inherited painful neuropathic disorders. We report a young man with severe childhood‐onset heat‐triggered paroxysmal pain, autonomic dysfunction, skeletal abnormalities, and a de novo SCN9A p.Ile234Thr variant, emphasizing the diagnostic and ...
Pedro Jose Tomaselli +7 more
wiley +1 more source
Biallelic SCO2 Variants Presenting as Motor‐Predominant Axonal Neuropathy With Complex IV Deficiency
ABSTRACT Background and Aims SCO2 encodes a mitochondrial copper chaperone required for cytochrome c oxidase (COX) assembly and is classically associated with severe multisystem mitochondrial disease. We characterize a motor‐predominant axonal neuropathy presentation associated with biallelic SCO2 variants.
Adriana P. Rebelo +5 more
wiley +1 more source
ABSTRACT Background and Aims The Val122Ile ATTR Amyloidosis has traditionally been linked to cardiac manifestations. Recent studies suggest that neuropathy may be relevant. In this study, we characterized its peripheral nerve manifestations in depth. Methods This was a national, multicenter, observational, retrospective study.
Anna Paula Paranhos +16 more
wiley +1 more source
Diagnostic value of ultrasonography versus electrodiagnosis in ulnar neuropathy
Seyed Mansoor Rayegani,1 Seyed Ahmad Raeissadat,2 Elham Kargozar,3 Shahram Rahimi-Dehgolan,3 Elham Loni4 1Physical Medicine and Rehabilitation Department and Research Center, Shohada-e-Tajrish Hospital, School of Medicine, Shahid Beheshti University of ...
Rayegani SM +4 more
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Unusual presentation of hereditary neuropathy with liability to pressure palsies
Background Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal-dominant painless peripheral neuropathy characterized by episodes of repeated focal pressure neuropathies at sites of entrapment/compression, with a considerable ...
Andary Michael T +2 more
doaj +1 more source
Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants
ABSTRACT Background and Aims The HARS1 gene encodes cytoplasmic histidyl‐tRNA synthetase, which catalyzes the ligation of histidine to tRNAHIS in the cytoplasm as an early step in protein biosynthesis and is essential for cell viability. Pathogenic variants in HARS1 have been associated with three phenotypes: autosomal dominant Charcot–Marie–Tooth (CMT)
Christina Del Greco +5 more
wiley +1 more source

