Results 191 to 200 of about 4,617 (234)
Dysphagia in hereditary sensory autonomic neuropathy type IV [PDF]
Arshad, M, Mozaffar, T, Shah, U
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Introducing a revised version of the Kumamoto scale as an easy-to-use clinical tool for monitoring multisystemic changes in hereditary transthyretin amyloidosis. [PDF]
Wixner J +6 more
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Diagnosis and Evaluation of Peripheral Neuropathies [PDF]
Varrato, Jay D, DO
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Novel Insights into the Management of Painful Trigeminal Neuropathy: Targeting Peripheral and Central Pathomechanisms. [PDF]
Chen YC, Cheng HT.
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The Neurologist, 2004
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic ...
Tulio, Bertorini +2 more
openaire +4 more sources
Since the description of Charcot-Marie-Tooth disease over a century ago. it has now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic ...
Tulio, Bertorini +2 more
openaire +4 more sources
Recent advances in hereditary sensory and autonomic neuropathies
Current Opinion in Neurology, 2006This review summarizes the genetic advances of hereditary sensory neuropathies and hereditary sensory and autonomic neuropathies, and provides information on phenotype-genotype correlation and on possible underlying pathomechanisms.Hereditary sensory neuropathies, also known as hereditary sensory and autonomic neuropathies, are a clinically and ...
Verhoeven, Kristien +5 more
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Mechanisms of disease in hereditary sensory and autonomic neuropathies
Nature Reviews Neurology, 2012Hereditary sensory and autonomic neuropathies (HSANs) are a clinically and genetically heterogeneous group of disorders of the PNS. Progressive degeneration, predominantly of sensory and autonomic neurons, is the main pathological feature in patients with HSAN, and causes prominent sensory loss and ulcerative mutilations in combination with variable ...
Rotthier, Annelies +3 more
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Hereditary Sensory and Autonomic Neuropathies: Adding More to the Classification
Current Neurology and Neuroscience Reports, 2019Hereditary sensory and autonomic neuropathies (HSANs) are a clinically heterogeneous group of inherited neuropathies featuring prominent sensory and autonomic involvement. Classification of HSAN is based on mode of inheritance, genetic mutation, and phenotype.
Coreen, Schwartzlow, Mohamed, Kazamel
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Hereditary Sensory and Autonomic Neuropathy
Neurology India, 2022Objectives: Hereditary sensory and autonomic neuropathy (HSAN) is a group of rare disorders affecting the sensory and autonomic neurons. Herein, we describe the clinical and genetic profile of six children with HSAN. Methods: Hospital records of six children diagnosed with HSAN over
Renu, Suthar +8 more
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