Hereditary Sensory Autonomic Neuropathy

Hereditary Sensory Autonomic Neuropathies are a group of inherited neurodegenerative disorders characterized clinically by loss of sensation and autonomic dysfunction. Here is the latest research on these neuropathies.

November 11, 2021

Hereditary transthyretin-mediated amyloidosis with polyneuropathy: baseline anthropometric, demographic and disease characteristics of patients from a reference center.

Arquivos de neuro-psiquiatria
Vanessa Cristina Cunha SequeiraMárcia Waddington Cruz
November 4, 2021
Case Report

A 5-Year-Old Palestinian Bedouin Girl with Repeated Self-Induced Injuries to the Digits, a Diagnosis of Congenital Insensitivity to Pain, and Anhidrosis.

The American Journal of Case Reports
Omar M HanatlehAli M Ibnian
October 11, 2021

Clinical and apparative investigation of large and small nerve fiber impairment in mixed cohort of ATTR-amyloidosis: impact on patient management and new insights in wild-type.

Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis
Aikaterini PapagianniClaudia Sommer
September 7, 2021
Case Report

Not Another Case Of Juvenile Idiopathic Arthritis: Congenital Insensitivity To Pain Presenting With Joint Problems.

Journal of Ayub Medical College, Abbottabad : JAMC
Sadia KhurshidMuhammad Sufyan Khan
August 30, 2021

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

JAMA Neurology
Janel O JohnsonElisabetta Zucchi
August 13, 2021

Hereditary sensory and autonomic neuropathy in a family of mixed breed dogs associated with a novel RETREG1 variant.

Journal of Veterinary Internal Medicine
Rodrigo Gutierrez-QuintanaLouise Burmeister
July 30, 2021

Towards personalized medicine for amyotrophic lateral sclerosis.

Trends in Endocrinology and Metabolism : TEM
Julien CassereauPascal Reynier
July 14, 2021

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Yongzhi XieRuxu Zhang
June 1, 2021

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.

Nature Medicine
Payam MohasselCarsten G Bönnemann
May 26, 2021

Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies.

Expert Review of Neurotherapeutics
Chiara PisciottaDavide Pareyson
May 22, 2021
Open Access

Disease-causing mutated ATLASTIN 3 is excluded from distal axons and reduces axonal autophagy.

Neurobiology of Disease
Laura BehrendtChristoph Kaether
May 18, 2021
Review
Open Access

Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.

Pharmacological Research : the Official Journal of the Italian Pharmacological Society
Giovanna TestaSimona Capsoni
April 30, 2021

The long chain base unsaturation has a stronger impact on 1-deoxy(methyl)-sphingolipids biophysical properties than the structure of its C1 functional group.

Biochimica Et Biophysica Acta. Biomembranes
Tania C B SantosLiana C Silva
April 23, 2021
Open Access

Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing.

Neurology. Genetics
Jose-Alberto PalmaHoracio Kaufmann
April 16, 2021
Preprint
Open Access

Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.

BioRxiv : the Preprint Server for Biology
E. MoriniSusan A. Slaugenhaupt

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