Literature DB >> 5471918

Clinical neurological aspects of familial dysautonomia.

M Mahloudji, P W Brunt, V A McKusick.   

Abstract

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Year:  1970        PMID： 5471918     DOI： 10.1016/0022-510x(70)90083-3

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  14 in total

Review 1.  Familial dysautonomia (Riley-Day syndrome).

Authors:  A Shetty; P Parikh; R P Khubchandani
Journal:  Indian J Pediatr       Date:  1995 May-Jun       Impact factor: 1.967

2.  IKAP/Elp1 is required in vivo for neurogenesis and neuronal survival, but not for neural crest migration.

Authors:  Barbara J Hunnicutt; Marta Chaverra; Lynn George; Frances Lefcort
Journal:  PLoS One       Date:  2012-02-23       Impact factor: 3.240

3.  Dysautonomia--its significance in neurologic disease.

Authors:  J Wichser; N Vijayan; P M Dreyfus
Journal:  Calif Med       Date:  1972-10

4.  Sympathetic skin response following thermal, electrical, acoustic, and inspiratory gasp stimulation in familial dysautonomia patients and healthy persons.

Authors:  M J Hilz; F B Azelrod; G Schweibold; E H Kolodny
Journal:  Clin Auton Res       Date:  1999-08       Impact factor: 4.435

5.  ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Authors:  Elisabetta Morini; Dadi Gao; Connor M Montgomery; Monica Salani; Chiara Mazzasette; Tobias A Krussig; Brooke Swain; Paula Dietrich; Jana Narasimhan; Vijayalakshmi Gabbeta; Amal Dakka; Jean Hedrick; Xin Zhao; Marla Weetall; Nikolai A Naryshkin; Gregory G Wojtkiewicz; Chien-Ping Ko; Michael E Talkowski; Ioannis Dragatsis; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2019-03-21       Impact factor: 11.025

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

Authors:  Elisabetta Morini; Dadi Gao; Emily M Logan; Monica Salani; Aram J Krauson; Anil Chekuri; Yei-Tsung Chen; Ashok Ragavendran; Probir Chakravarty; Serkan Erdin; Alexei Stortchevoi; Jesper Q Svejstrup; Michael E Talkowski; Susan A Slaugenhaupt
Journal:  J Genet Genomics       Date:  2021-12-09       Impact factor: 5.723

7.  Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.

Authors:  M J Hilz; E H Kolodny; I Neuner; B Stemper; F B Axelrod
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-09       Impact factor: 10.154

8.  Relationship between proprioception at the knee joint and gait ataxia in HSAN III.

Authors:  Vaughan G Macefield; Lucy J Norcliffe-Kaufmann; Felicia B Axelrod; Horacio Kaufmann
Journal:  Mov Disord       Date:  2013-05-16       Impact factor: 10.338

9.  Brainstem reflexes in patients with familial dysautonomia.

Authors:  Joel V Gutiérrez; Lucy Norcliffe-Kaufmann; Horacio Kaufmann
Journal:  Clin Neurophysiol       Date:  2014-07-03       Impact factor: 3.708

10.  Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Authors:  Elisabetta Morini; Paula Dietrich; Monica Salani; Heather M Downs; Gregory R Wojtkiewicz; Shanta Alli; Anthony Brenner; Mats Nilbratt; John W LeClair; Anne Louise Oaklander; Susan A Slaugenhaupt; Ioannis Dragatsis
Journal:  Hum Mol Genet       Date:  2016-01-13       Impact factor: 6.150
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