Results 101 to 110 of about 2,353 (157)

Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis. [PDF]

Sci Rep
Ventayol-Guirado M, Cisneros-Barroso E, Ribot-Sanso MA, Gonzalez-Moreno J, Losada I, Ripoll-Vera T, Pons J, Fortuny E, Bosch T, Figuerola A, Descals C, Montala JC, Alvarez-Rubio J, Hernandez-Rodriguez J, Lustre-Rodriguez J, Llull-Alberti MV, Jimenez-Barcelo JA, Asensio-Landa VJ, Torres-Juan L, Martinez-Lopez I, Buades-Reines J, Heine-Suñer D.   +21 more
europepmc   +1 more source

Patient-Reported Outcome Measures for Assessing Health-Related Quality of Life in Patients With Polyneuropathies, Focusing on Guillain-Barré Syndrome and Chronic Inflammatory Demyelinating Polyneuropathy: A Systematic Review of Measurement Properties. [PDF]

J Peripher Nerv Syst
Pelouto F, Baars AE, Papri N, Haagsma JA, Jacobs BC, Terwee CB.   +5 more
europepmc   +1 more source

Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management. [PDF]

Ann Neurosci
Hou W, Hou Y, Ren X, Liu J.
europepmc   +1 more source

Challenges in Diagnosing Systemic Amyloidosis. [PDF]

JACC Case Rep
Gregório C, Garcia AB, Vilela M, Nobre Menezes M, Quadros C, Pinto FJ, Brito D.   +6 more
europepmc   +1 more source

Bulbar Syndrome as Atypical Presentation of Transthyretin Familial Amyloid Neuropathy Associated with First Bite Syndrome: Possible Causal Relationship

Annals of Case Reports
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Bilateral Progressive Optic Neuropathy in a Patient with Familial Amyloid Polyneuropathy: Amyloid Deposits in the Optic Nerve Head?

Neuro-Ophthalmology, 2023
Familial amyloid polyneuropathy is a rare autosomal dominant hereditary disease. Optic nerve involvement is frequently observed secondary to uncontrolled glaucoma but, rarely, an ischaemic optic neuropathy can occur. In this case report we describe a patient who presented with bilateral progressive visual loss and constriction of his visual fields ...
José Ignacio Vela, Sandra Perich, Victoria Bulnes, Irene Loscos, María Baradad   +4 more
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Sympathetic skin responses in hereditary sensory and autonomic neuropathy and familial amyloid neuropathy are different

Muscle & Nerve, 1999
We compared the clinical and electrophysiological findings in seven patients with familial amyloid polyneuropathy (FAP) and six with hereditary sensory and autonomic neuropathy type I (HSAN). Both groups had progressive loss of pain and temperature appreciation, beginning distally in the feet.
Z M, Shivji, P, Ashby
openaire   +2 more sources