Literature DB >> 25040701

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.

S Miyatake1, H Tada, S Moriya, J Takanashi, Y Hirano, M Hayashi, Y Oya, M Nakashima, Y Tsurusaki, N Miyake, N Matsumoto, H Saitsu.   

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Year:  2014        PMID： 25040701     DOI： 10.1111/cge.12455

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.

Authors:  Aritoshi Iida; Weirong Xing; Martine K F Docx; Tomoki Nakashima; Zheng Wang; Mamori Kimizuka; Wim Van Hul; Dietz Rating; Jürgen Spranger; Hirohumi Ohashi; Noriko Miyake; Naomichi Matsumoto; Subburaman Mohan; Gen Nishimura; Geert Mortier; Shiro Ikegawa
Journal:  J Med Genet       Date:  2016-04-07       Impact factor: 6.318

2.  HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.

Authors:  Dana Šafka Brožková; Jaroslava Paulasová Schwabová; Jana Neupauerová; Jana Sabová; Marcela Krůtová; Vladimír Peřina; Marie Trková; Petra Laššuthová; Pavel Seeman
Journal:  J Hum Genet       Date:  2016-12-22       Impact factor: 3.172

3.  Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.

Authors:  Long Guo; Nursel H Elcioglu; Aritoshi Iida; Yasemin K Demirkol; Seda Aras; Naomichi Matsumoto; Gen Nishimura; Noriko Miyake; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2016-11-24       Impact factor: 3.172

Review 4.  Two novel mutations in the GAN gene causing giant axonal neuropathy.

Authors:  Monica Irad Normendez-Martínez; Lucero Monterde-Cruz; Roberto Martínez; Magdalena Marquez-Harper; Nayelli Esquitin-Garduño; Margarita Valdes-Flores; Leonora Casas-Avila; Valeria Ponce de Leon-Suarez; Viktor Javier Romero-Díaz; Alberto Hidalgo-Bravo
Journal:  World J Pediatr       Date:  2018-06-06       Impact factor: 2.764

5.  Dysosteosclerosis is also caused by TNFRSF11A mutation.

Authors:  Long Guo; Nursel H Elcioglu; Ozge K Karalar; Mert O Topkar; Zheng Wang; Yuma Sakamoto; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2018-03-22       Impact factor: 3.172

6.  Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.

Authors:  Long Guo; Katta M Girisha; Aritoshi Iida; Malavika Hebbar; Anju Shukla; Hitesh Shah; Gen Nishimura; Naomichi Matsumoto; Shifa Nismath; Noriko Miyake; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2016-11-10       Impact factor: 3.172

7.  Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease.

Authors:  Alejandro Horga; Andreea Manole; Alice L Mitchell; Enrico Bugiardini; Iain P Hargreaves; Walied Mowafi; Conceição Bettencourt; Emma L Blakely; Langping He; James M Polke; Catherine E Woodward; Ilaria Dalla Rosa; Sachit Shah; Alan M Pittman; Ros Quinlivan; Mary M Reilly; Robert W Taylor; Ian J Holt; Michael G Hanna; Robert D S Pitceathly; Antonella Spinazzola; Henry Houlden
Journal:  Mol Biol Rep       Date:  2021-03-19       Impact factor: 2.316

8.  Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Authors:  Long Guo; Nursel H Elcioglu; Shuji Mizumoto; Zheng Wang; Bilge Noyan; Hatice M Albayrak; Shuhei Yamada; Naomichi Matsumoto; Noriko Miyake; Gen Nishimura; Shiro Ikegawa
Journal:  J Hum Genet       Date:  2017-03-23       Impact factor: 3.172

9.  Giant axonal neuropathy: cross-sectional analysis of a large natural history cohort.

Authors:  Diana X Bharucha-Goebel; Gina Norato; Dimah Saade; Eduardo Paredes; Victoria Biancavilla; Sandra Donkervoort; Rupleen Kaur; Tanya Lehky; Margaret Fink; Diane Armao; Steven J Gray; Melissa Waite; Sarah Debs; Gilberto Averion; Ying Hu; Wadih M Zein; A Reghan Foley; Minal Jain; Carsten G Bönnemann
Journal:  Brain       Date:  2021-11-29       Impact factor: 15.255
  9 in total

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