Nishino I - Search Results

1

Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.

Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: nishino i. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.

2

Deficiency of alpha-dystroglycan in muscle-eye-brain disease.

Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Kano H, et al. Among authors: nishino i. Biochem Biophys Res Commun. 2002 Mar 15;291(5):1283-6. doi: 10.1006/bbrc.2002.6608. Biochem Biophys Res Commun. 2002. PMID: 11883957

3

Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene.

Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I. Yamasoba T, et al. Among authors: nishino i. Neuromuscul Disord. 2002 Jun;12(5):506-12. doi: 10.1016/s0960-8966(01)00329-7. Neuromuscul Disord. 2002. PMID: 12031626

4

Germline mosaicism of a novel mutation in lysosome-associated membrane protein-2 deficiency (Danon disease).

Takahashi M, Yamamoto A, Takano K, Sudo A, Wada T, Goto Y, Nishino I, Saitoh S. Takahashi M, et al. Among authors: nishino i. Ann Neurol. 2002 Jul;52(1):122-5. doi: 10.1002/ana.10235. Ann Neurol. 2002. PMID: 12112061

5

Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients.

Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK. Tagawa K, et al. Among authors: nishino i. J Neurol Sci. 2003 Jul 15;211(1-2):23-8. doi: 10.1016/s0022-510x(03)00041-8. J Neurol Sci. 2003. PMID: 12767493

6

Negative result in search for human alpha-dystrobrevin deficiency.

Ishikawa H, Nonaka I, Nishino I. Ishikawa H, et al. Among authors: nishino i. Muscle Nerve. 2003 Sep;28(3):387-8. doi: 10.1002/mus.10441. Muscle Nerve. 2003. PMID: 12929204 No abstract available.

7

[Immunohistochemical studies of a variant of congenital muscular dystrophy].

Yoshioka M, Sugie K, Nishino I, Toda T. Yoshioka M, et al. Among authors: nishino i. No To Hattatsu. 2004 Jan;36(1):55-9. No To Hattatsu. 2004. PMID: 14737865 Japanese.

8

[Inclusion body myositis associated with chronic thyroiditis, Sjögren's syndrome and autoimmune cholangitis].

Hama K, Miwa H, Nishino I, Nonaka I, Kondo T. Hama K, et al. Among authors: nishino i. No To Shinkei. 2004 Jun;56(6):503-7. No To Shinkei. 2004. PMID: 15328839 Review. Japanese.

9

Two novel CAV3 gene mutations in Japanese families.

Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I. Sugie K, et al. Among authors: nishino i. Neuromuscul Disord. 2004 Dec;14(12):810-4. doi: 10.1016/j.nmd.2004.08.008. Neuromuscul Disord. 2004. PMID: 15564037

10

Dysferlinopathy associated with rigid spine syndrome.

Nagashima T, Chuma T, Mano Y, Goto Y, Hayashi YK, Minami N, Nishino I, Nonaka I, Takahashi T, Sawa H, Aoki M, Nagashima K. Nagashima T, et al. Among authors: nishino i. Neuropathology. 2004 Dec;24(4):341-6. doi: 10.1111/j.1440-1789.2004.00573.x. Neuropathology. 2004. PMID: 15641596

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

749 results

Search Page