Results 171 to 180 of about 4,617 (234)

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family. [PDF]

Hum Genome Var
Munir A, Frederiksen HN, Ali F, Shah S, Rashid A, Oreshkov S, Khan K, Shahzeb M, Ullah I, Rahman HU, Ullah M, Ansar M, Rehman AU.   +12 more
europepmc   +1 more source

Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation. [PDF]

Orphanet J Rare Dis
Peretto L, Pinotti M, Balestra D.
europepmc   +1 more source

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

Genome-wide meta-analysis identifies genetic risk loci for mono- and polyneuropathies in 983 477 individuals. [PDF]

Hum Mol Genet
Broberg M, Gen F, Kalso E, Ollila HM.
europepmc   +1 more source

Hereditary sensory and autonomic neuropathy type IV.

Indian pediatrics, 2006
Sunil, Karande, Nitin, Satam
openaire   +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

Clinical and genetic features of hereditary transthyretin amyloidosis with polyneuropathy in China: insights from case analysis and literature review. [PDF]

Front Genet
Yuan X, Lv Y, Wang X, Han B, Xie B.
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

Monoclonal-related neuropathies: diagnosis, prognosis, and outcomes. [PDF]

Hematology Am Soc Hematol Educ Program
Jaccard A, Magy L, Arnulf B, Bridoux F, Roussel M.   +4 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