Literature DB >> 36211162

A Rare Case of Neuromuscular Oculoauditory Syndrome.

Arumugom Archana1, Tamil Selvan1, Venkatraman R Kumar1, K Abinaya1, Nirupama Kasturi2.   

Abstract

Entities:  

Year:  2022        PMID： 36211162      PMCID： PMC9540915          DOI： 10.4103/aian.aian_67_22

Source DB:  PubMed          Journal:  Ann Indian Acad Neurol        ISSN： 0972-2327            Impact factor:   1.714


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  4 in total

1.  Paralog Studies Augment Gene Discovery: DDX and DHX Genes.

Authors:  Ingrid Paine; Jennifer E Posey; Christopher M Grochowski; Shalini N Jhangiani; Sarah Rosenheck; Robert Kleyner; Taylor Marmorale; Margaret Yoon; Kai Wang; Reid Robison; Gerarda Cappuccio; Michele Pinelli; Adriano Magli; Zeynep Coban Akdemir; Joannie Hui; Wai Lan Yeung; Bibiana K Y Wong; Lucia Ortega; Mir Reza Bekheirnia; Tatjana Bierhals; Maja Hempel; Jessika Johannsen; René Santer; Dilek Aktas; Mehmet Alikasifoglu; Sevcan Bozdogan; Hatip Aydin; Ender Karaca; Yavuz Bayram; Hadas Ityel; Michael Dorschner; Janson J White; Ekkehard Wilichowski; Saskia B Wortmann; Erasmo B Casella; Joao Paulo Kitajima; Fernando Kok; Fabiola Monteiro; Donna M Muzny; Michael Bamshad; Richard A Gibbs; V Reid Sutton; Hilde Van Esch; Nicola Brunetti-Pierri; Friedhelm Hildebrandt; Ariel Brautbar; Ignatia B Van den Veyver; Ian Glass; Davor Lessel; Gholson J Lyon; James R Lupski
Journal:  Am J Hum Genet       Date:  2019-06-27       Impact factor: 11.025

Review 2.  Review and update on the molecular basis of Leber congenital amaurosis.

Authors:  Oscar Francisco Chacon-Camacho; Juan Carlos Zenteno
Journal:  World J Clin Cases       Date:  2015-02-16       Impact factor: 1.337

Review 3.  Leber congenital amaurosis: genes, proteins and disease mechanisms.

Authors:  Anneke I den Hollander; Ronald Roepman; Robert K Koenekoop; Frans P M Cremers
Journal:  Prog Retin Eye Res       Date:  2008-06-01       Impact factor: 21.198

Review 4.  Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.

Authors:  Neruban Kumaran; Anthony T Moore; Richard G Weleber; Michel Michaelides
Journal:  Br J Ophthalmol       Date:  2017-07-08       Impact factor: 4.638
  4 in total

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