A phase 3 multicenter, prospective, open-label efficacy and safety study of immune globulin (human) 10% caprylate/chromatography purified in patients with myasthenia gravis exacerbations [PDF]
, 2019 Background: Myasthenia gravis (MG) is an autoimmune disorder affecting neuromuscular transmission. Exacerbations may involve increasing bulbar weakness and/or sudden respiratory failure, both of which can be critically disabling.
Ayguasanosa, J +17 more
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Noninvasive ¹³C-octanoic acid breath test shows delayed gastric emptying in patients with amyotrophic lateral sclerosis [PDF]
, 1999 Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive loss of motor neurons. However, ALS has been recognized to also involve non-motor systems.
Folwaczny, Christian +6 more
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Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy
Neurology International, 2013 X-linked spinobulbar muscular atrophy (Kennedy’s disease) affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord.
Montserrat Diaz-Abad, Neil C. Porter
doaj +1 more source
Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
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A comparison of two conjunctival rotation autograft techniques in primary pterygium surgery. [PDF]
, 2017 PURPOSE: To compare the effects of 90° and 180° conjunctival rotational autograft (CRA) techniques used in primary pterygium surgery. METHODS: Forty-five patients were included in this retrospective study. Visual acuity (VA), corneal topography, and auto-
Aksoy, Umit +7 more
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Facial onset sensory and motor neuronopathy: new cases, cognitive changes and pathophysiology [PDF]
, 2020 Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN.
Al-Chalabi, Ammar +26 more
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Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy [PDF]
, 2015 Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates ...
Aggarwal, Tanya +15 more
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Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy [PDF]
, 2015 OBJECTIVE To expand the clinical phenotype of autosomal dominant congenital spinal muscular atrophy with lower extremity predominance (SMA-LED) due to mutations in the dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) gene.
Al-Lozi, Muhammad T +33 more
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Impaired Nuclear Export of Polyglutamine-Expanded Androgen Receptor in Spinal and Bulbar Muscular Atrophy. [PDF]
, 2019 Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Prior studies have highlighted the importance of AR nuclear localization in SBMA pathogenesis; therefore, in ...
Arnold, Frederick J. +2 more
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Long-term follow-up of spinal and bulbar muscular atrophy in Taiwan
Journal of the Formosan Medical Association, 2013 Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a rare neurodegenerative disorder presenting with insidious onset of weakness in bulbar and limb muscles. Information regarding long-term clinical and functional progression has
Ser-Chen Fu +6 more
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