Results 171 to 180 of about 4,841 (226)

Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies. [PDF]

Genes (Basel)
Chrysostomaki M, Chatzi D, Kyriakoudi SA, Meditskou S, Manthou ME, Gargani S, Theotokis P, Dermitzakis I.   +7 more
europepmc   +1 more source

Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6

Nozomu Yoshioka, Masayuki Kurose, Hiromi Sano, Dang Minh Tran, Satomi Chiken, Kazuki Tainaka, Kensuke Yamamura, Kenta Kobayashi, Atsushi Nambu, Hirohide Takebayashi   +9 more
openalex   +1 more source

Allgrove syndrome with early neurodegeneration in a child: A case report from Syria. [PDF]

Medicine (Baltimore)
Salame H, Jaber R, Taher H, Olleik M, Farhat A, Khouri L.   +5 more
europepmc   +1 more source

Multidisciplinary Approach for Dental Management of Congenital Insensitivity to Pain with Anhidrosis: Clinical Case Report with 12-Month Follow-Up. [PDF]

Dent J (Basel)
Abdel-Bari ABAT, Fawzy M, Saad KA, Alhadainy HA.   +3 more
europepmc   +1 more source

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

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

, 2011
Kevin Garofalo, Anke Penno, Brian P. Schmidt, HoJoon Lee, Matthew P. Frosch, Arnold von Eckardstein, Robert H. Brown, Thorsten Hornemann, Florian Eichler   +8 more
openalex   +1 more source

Modeling of Charcot-Marie-Tooth disease in zebrafish. [PDF]

Front Mol Neurosci
Korzeniowska Née Wiweger M, Chabros K, Rzepnikowska W, Kochański A, Kabzińska D.   +4 more
europepmc   +1 more source

Clinical and Genetic Reassessment in Patients With Clinically Diagnosed Hereditary Polyneuropathy. [PDF]

Eur J Neurol
Kodal LS, Duno M, Dysgaard T.
europepmc   +1 more source

Guillain-Barré Syndrome With Asymmetrical Weakness in a Patient With Charcot-Marie-Tooth Disease Type 1A. [PDF]

Cureus
Ahmed K, Elachola M, Alsararatee H, Pugh N.   +3 more
europepmc   +1 more source

A Novel Homozygous Pathogenic Variant in SCN9A Gene Causing Hereditary Sensory and Autonomic Neuropathy Type ID: A Case Report [PDF]

Roba Alzuhoor, Mahmoud Abdelrazzaq Abu Mayaleh, Abdallah A. Najjar, Ghaida Atawneh, Ahmad Khleif, Yasmin Bozia, Mohammad Zhoor   +6 more
openalex   +1 more source