Literature DB >> 5969547

[Familial progressive chronic bulbo-pontine paralysis with deafness. A case of Klippel-Trenaunay syndrome in siblings of the same family. Diagnostic and genetic problems].

J Van Laere.   

Abstract

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Mesh：

Year:  1966        PMID： 5969547

Source DB:  PubMed          Journal:  Rev Neurol (Paris)        ISSN： 0035-3787            Impact factor:   2.607


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  11 in total

1.  Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.

Authors:  S A Hawkins; N C Nevin; A E Harding
Journal:  J Med Genet       Date:  1990-03       Impact factor: 6.318

2.  Progressive bulbar paralysis in childhood: a case report.

Authors:  G F Perticoni; T A Cantisani; H Fisher
Journal:  Ital J Neurol Sci       Date:  1983-04

Review 3.  The nosology of the spinal muscular atrophies.

Authors:  A E Emery
Journal:  J Med Genet       Date:  1971-12       Impact factor: 6.318

4.  A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder.

Authors:  Başak Mutlu; Merve Torun Topçu; Ayça Çiprut
Journal:  Turk Arch Otorhinolaryngol       Date:  2019-12-01

5.  Juvenile-onset bulbospinal muscular atrophy with deafness: Vialetta-van Laere syndrome or Madras-type motor neuron disease?

Authors:  B A Summers; M Swash; M S Schwartz; D A Ingram
Journal:  J Neurol       Date:  1987-08       Impact factor: 4.849

6.  Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Authors:  Peter Green; Matthew Wiseman; Yanick J Crow; Henry Houlden; Shelley Riphagen; Jean-Pierre Lin; F Lucy Raymond; Anne-Marie Childs; Eamonn Sheridan; Sian Edwards; Dragana J Josifova
Journal:  Am J Hum Genet       Date:  2010-03-04       Impact factor: 11.025

7.  Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.

Authors:  A Reghan Foley; Manoj P Menezes; Amelie Pandraud; Michael A Gonzalez; Ahmad Al-Odaib; Alexander J Abrams; Kumiko Sugano; Atsushi Yonezawa; Adnan Y Manzur; Joshua Burns; Imelda Hughes; B Gary McCullagh; Heinz Jungbluth; Ming J Lim; Jean-Pierre Lin; Andre Megarbane; J Andoni Urtizberea; Ayaz H Shah; Jayne Antony; Richard Webster; Alexander Broomfield; Joanne Ng; Ann A Mathew; James J O'Byrne; Eva Forman; Mariacristina Scoto; Manish Prasad; Katherine O'Brien; Simon Olpin; Marcus Oppenheim; Iain Hargreaves; John M Land; Min X Wang; Kevin Carpenter; Rita Horvath; Volker Straub; Monkol Lek; Wendy Gold; Michael O Farrell; Sebastian Brandner; Rahul Phadke; Kazuo Matsubara; Michael L McGarvey; Steven S Scherer; Peter S Baxter; Mary D King; Peter Clayton; Shamima Rahman; Mary M Reilly; Robert A Ouvrier; John Christodoulou; Stephan Züchner; Francesco Muntoni; Henry Houlden
Journal:  Brain       Date:  2013-11-19       Impact factor: 13.501

8.  A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.

Authors:  Kaili Shi; Zhen Shi; Huifang Yan; Xiaodong Wang; Yanling Yang; Hui Xiong; Qiang Gu; Ye Wu; Yuwu Jiang; Jingmin Wang
Journal:  BMC Med Genet       Date:  2019-05-07       Impact factor: 2.103

Review 9.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123

10.  Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Authors:  Andreea Manole; Zane Jaunmuktane; Iain Hargreaves; Marthe H R Ludtmann; Vincenzo Salpietro; Oscar D Bello; Simon Pope; Amelie Pandraud; Alejandro Horga; Renata S Scalco; Abi Li; Balasubramaniem Ashokkumar; Charles M Lourenço; Simon Heales; Rita Horvath; Patrick F Chinnery; Camilo Toro; Andrew B Singleton; Thomas S Jacques; Andrey Y Abramov; Francesco Muntoni; Michael G Hanna; Mary M Reilly; Tamas Revesz; Dimitri M Kullmann; James E C Jepson; Henry Houlden
Journal:  Brain       Date:  2017-11-01       Impact factor: 13.501
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