Results 191 to 200 of about 9,576 (247)

Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis. [PDF]

J Clin Med
Singh A, Wyatt J, Théaudin M, Karam C, Kasper D, Streubel B, Frascello K, Bondue A.   +7 more
europepmc   +1 more source

A Brief Review of Inherited Neuropathies: A Perspective from Saudi Arabia. [PDF]

Brain Sci
Bamaga AK, Alyazidi AS, Alali FK.
europepmc   +1 more source

Long-Term Peritoneal Dialysis in Hereditary Transthyretin Amyloidosis: A Case Report and Management Challenges. [PDF]

Cureus
Fernandes V, Paulo N, Silva R, Oliveira A, Beco A, Pestana M.   +5 more
europepmc   +1 more source

A Rare Unusually Aggressive Form of Hereditary Transthyretin Amyloidosis. [PDF]

JACC Case Rep
Zhang J, Roth LR, Wees I, Phillips L, Pedretti R, Nguyen P, Saelices L, Grodin JL.   +7 more
europepmc   +1 more source

Expanding the neurological spectrum of HTLV-1 beyond HAM/TSP: a contemporary perspective. [PDF]

Lancet Reg Health Am
Araujo AQC, Silva MTT.
europepmc   +1 more source

Dysphagia in hereditary sensory autonomic neuropathy type IV.

JPMA. The Journal of the Pakistan Medical Association, 1999
U, Shah, M, Arshad, T, Mozaffar
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Hereditary Sensory and Autonomic Neuropathy

Neurology India, 2022
Objectives: 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, Indar K, Sharawat, Katja, Eggermann, Hansashree, Padmanabha, Arushi G, Saini, Bhavneet, Bharti, Ingo, Kurth, Pratibha, Singhi, Naveen, Sankhyan   +8 more
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Charcot-Marie-Tooth Disease (Hereditary Motor Sensory Neuropathies) and Hereditary Sensory and Autonomic Neuropathies

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, Pushpa, Narayanaswami, Hani, Rashed   +2 more
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Recent advances in hereditary sensory and autonomic neuropathies

Current Opinion in Neurology, 2006
This 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, Timmerman, Vincent, Mauko, Barbara, Pieber, Thomas R., De Jonghe, Peter, Auer-Grumbach, Michaela   +5 more
openaire   +3 more sources