Hereditary sensory autonomic neuropathy and anaesthesia - a case report

by Nandini Dave, Anil Sonawane, Sachin Chandolkar
Published 2007-01-01

The familial dysautonomia disease gene IKBKAP is required in the developing and adult mouse central nervous system

by Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A. Michael Babcock, George A. Carlson, Frances Lefcort
Published 2017-05-01

Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent

by Abel Ramírez-Estudillo, Gerardo González-Saldivar, Itzel Espinosa-Soto, Jesús González-Cortez, Alejandro Salcido-Montenegro
Published 2017-07-01

Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5

by Geun-Young Park, Dae-Hyun Jang, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo
Published 2019-10-01

ORAL MANIFESTATIONS AND PROSTHETIC REHABILITATION IN HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY (HSAN)TYPE IV:A CASE REPORT*

by Duygu OFLUOĞLU, Nazlı ALTIN, Elif YAMAN, Elif Bahar TUNA-İNCE, Zeynep AYTEPE, Hakkı TANYERİ
Published 2016-04-01

Congenital insensitivity to pain with anhidrosis and compensatory hyperhidrosis

by Aradhana Rout, Sandeep Arora, Shamsher Singh Dalal, Sudeep Kumar
Published 2021-01-01

Congenital insensitivity to pain and anhidrosis: A case report from South India

by Carounanidy Udayashankar, P Oudeacoumar, Amiya Kumar Nath
Published 2012-01-01

Sisters with no pain, no tears: A report of a new variant of hereditary sensory and autonomic neuropathy (Type IX) Caused by a novel SCN11A mutation

by Shital Poojary, Saurabh Jaiswal, Kapisha Sunny Shah, Krishna B Bhalala
Published 2020-01-01

Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and rev...

by Karim Elhennawy, Seif Reda, Christian Finke, Luitgard Graul-Neumann, Paul-Georg Jost-Brinkmann, Theodosia Bartzela
Published 2017-08-01

Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality

by Masao Horie, Kazuyuki Mekada, Hiromi Sano, Yoshiaki Kikkawa, Satomi Chiken, Takuro Someya, Keisuke Saito, M Ibrahim Hossain, Masaaki Nameta, Kuniya Abe, Kenji Sakimura, Katsuhiko Ono, Atsushi Nambu, Atsushi Yoshiki, Hirohide Takebayashi
Published 2016-12-01

Congenital insensitivity to pain: Review with dental implications

by A Vijay Kumar, H P Jaishankar, Purnachandrarao Naik
Published 2014-01-01

Cutaneous and sympathetic denervation in neonatal rats with a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 gene

by Shu-Hao Hsu, Ming-Jen Lee, Song-Chou Hsieh, Francesco Scaravilli, Sung-Tsang Hsieh
Published 2004-07-01

"Congenital Sensory Neuropathy as a Differential Diagnosis for Phagocytic Immunodeficiency "

by Mohammad Gharagozlou, Fariborz Zieh, Parviz Tabatabaei, Gholamreza Zamani
Published 2006-03-01

Disease mechanisms in hereditary sensory and autonomic neuropathies

by Nathalie Verpoorten, Peter De Jonghe, Vincent Timmerman
Published 2006-02-01

Uncoupling neurotrophic function from nociception of nerve growth factor: what can be learned from a rare human disease?

by Kijung Sung, Wanlin Yang, Chengbiao Wu
Published 2019-01-01

Hereditary sensory and autonomic neuropathy type V: Report of a rare case

by Ritesh Kalaskar, Ashita Kalaskar
Published 2015-01-01

The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA

by James Jiqi Wang, Bo Yu, Zongzhe Li
Published 2019-05-01

Unexplained oral and extremity ulcerations in an infant

by Kristen Russomanno, MD, Ashley DiLorenzo, MD, Kara Simpson, MS, Seth Berger, MD, PhD, Kaiane Habeshian, MD
Published 2021-03-01

Mapping genetic diseases in northern Sweden

by Einarsdottir, Elisabet
Published 2005

A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

by Behrouz Rahmani, Fatemeh Fekrmandi, Keivan Ahadi, Tannaz Ahadi, Afagh Alavi, Abolhassan Ahmadiani, Sareh Asadi
Published 2018-11-01