Search the collection

93 results for Leigh-like+syndrome

Sort by:

Sort by

Limit results to:

20 per page

93 results for Leigh-like+syndrome

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
Manuscripts
Series 01: Allen & Unwin further records, being editorial files, ca. 1983-2008: Boxes 44-87
Date:ca. 1983-2008
Call Numbers:MLMSS 8011/Boxes 44-87
For use in the Library
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome
Author / Creator:Spinazzi, Marco ; Radaelli, Enrico ; Horré, Katrien ; Arranz, Amaia M. ; Gounko, Natalia V. ; Agostinis, Patrizia ; Maia, Teresa Mendes ; Impens, Francis ; Moraisi, Vanessa Alexandra ; Lopez-Lluch, Guillermo ; Serneels, Lutgarde ; Navas, Placido ; De Strooper, Bart
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (1), p.277-286
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome
Author / Creator:Finsterer, Josef ; Newstead, Shaundra M.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Bulletin of the National Research Centre, 2023-12, Vol.47 (1), p.177-4, Article 177
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
Author / Creator:Balasubramaniam, S. ; Riley, L. G. ; Bratkovic, D. ; Ketteridge, D. ; Manton, N. ; Cowley, M. J. ; Gayevskiy, V. ; Roscioli, T. ; Mohamed, M. ; Gardeitchik, T. ; Morava, E. ; Christodoulou, J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.745-747
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
A Rare Case of Dystonia: Leigh-like Syndrome
Author / Creator:Mehta, Sahil ; Prabhat, Nandita ; Radotra, B ; Singh, Rajveer ; Lal, Vivek
Publisher:Mumbai: Wolters Kluwer India Pvt. Ltd
Journal title:Neurology India, 2022-01, Vol.70 (1), p.429-430
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3
Author / Creator:Newstead, Shaundra M. ; Finsterer, Josef
Publisher:India: Wolters Kluwer - Medknow
Journal title:Annals of African medicine, 2024-07, Vol.23 (3), p.512-513
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency
Author / Creator:Zhou, Xiyue ; Lou, Xiaoting ; Zhou, Yuwei ; Xie, Yaojun ; Han, Xinyu ; Dong, Qiyu ; Ying, Xiaojie ; Laurentinah, Mahlatsi Refiloe ; Zhang, Luyi ; Chen, Zhehui ; Li, Dongxiao ; Fang, Hezhi ; Lyu, Jianxin ; Yang, Yanling ; Wang, Ya
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2023-04, Vol.68 (4), p.239-246
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191TC in MT-ND3
Author / Creator:Newstead, Shaundra M ; Finsterer, Josef
Publisher:Medknow Publications and Media Pvt. Ltd
Journal title:Annals of African medicine, 2024-07, Vol.23 (3), p.512
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A
Author / Creator:Finsterer, Josef
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2019-10, Vol.20 (4), p.219-220
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
Author / Creator:Taura, Yoshihiro ; Tozawa, Takenori ; Isoda, Kenichi ; Hirai, Satori ; Chiyonobu, Tomohiro ; Yano, Naoko ; Hayashi, Takahiro ; Yoshida, Takeshi ; Iehara, Tomoko
Publisher:London: Nature Publishing Group UK
Journal title:Human genome variation, 2023-08, Vol.10 (1), p.23-23, Article 23
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome
Author / Creator:Uzumcu, A ; Norgett, E E ; Dindar, A ; Uyguner, O ; Nisli, K ; Kayserili, H ; Sahin, S E ; Dupont, E ; Severs, N J ; Leigh, I M ; Yuksel-Apak, M ; Kelsell, D P ; Wollnik, B
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2006-02, Vol.43 (2), p.e05-e05
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3
Author / Creator:Newstead, Shaundra M ; Finsterer, Josef
Journal title:Cureus, 2022-09, Vol.14 (9), p.e28986-e28986
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh‐like syndrome
Author / Creator:Zhang, Y. ; Yang, Y. L. ; Sun, F. ; Cai, X. ; Qian, N. ; Yuan, Y. ; Wang, Z. X. ; Qi, Y. ; Xiao, J. X. ; Wang, X. Y. ; Zhang, Y. H. ; Jiang, Y. W. ; Qin, J. ; Wu, X. R.
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2007-04, Vol.30 (2), p.265-265
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency
Author / Creator:Chol, M ; Lebon, S ; Bénit, P ; Chretien, D ; de Lonlay, P ; Goldenberg, A ; Odent, S ; Hertz-Pannier, L ; Vincent-Delorme, C ; Cormier-Daire, V ; Rustin, P ; Rötig, A ; Munnich, A
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2003-03, Vol.40 (3), p.188-191
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
An interesting case of Leigh-like syndrome
Author / Creator:Bharani, K ; Gnanashanmugam, G ; Kamaraj, V ; Balasubramanian, S
Publisher:India: Medknow Publications and Media Pvt. Ltd
Journal title:Annals of the Indian Academy of Neurology, 2012-10, Vol.15 (4), p.310-312
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
An interestng case of Leigh-like syndrome
Author / Creator:Bharani, K ; Gnanashanmugam, G ; Kamarai, V ; Balasubrarmnian, S
Journal title:Annals of the Indian Academy of Neurology, 2012-01, Vol.15 (4), p.310-312
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
The phenotypic spectrum of PTCD3 deficiency
Author / Creator:Lace, Baiba ; Faqeih, Eissa ; Kaya, Namik ; Krumina, Zita ; Mayr, Johannes A. ; Micule, Ieva ; Wright, Nathan Thompson ; Achleitner, Melanie T. ; AlQudairy, Hanan ; Pajusalu, Sander ; Stavusis, Janis ; Zayakin, Pawel ; Inashkina, Inna
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-09, Vol.65 (5), p.297-304
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Molecular basis of Leigh syndrome: a current look
Author / Creator:Schubert Baldo, Manuela ; Vilarinho, Laura
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-01, Vol.15 (1), p.31-14, Article 31
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
Author / Creator:Ogawa, Erika ; Shimura, Masaru ; Fushimi, Takuya ; Tajika, Makiko ; Ichimoto, Keiko ; Matsunaga, Ayako ; Tsuruoka, Tomoko ; Ishige, Mika ; Fuchigami, Tatsuo ; Yamazaki, Taro ; Mori, Masato ; Kohda, Masakazu ; Kishita, Yoshihito ; Okazaki, Yasushi ; Takahashi, Shori ; Ohtake, Akira ; Murayama, Kei
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.685-693
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly
Author / Creator:Kahlhöfer, Flora ; Gansen, Max ; Zickermann, Volker
Publisher:Basel: MDPI AG
Journal title:Life (Basel, Switzerland), 2021-05, Vol.11 (5), p.455
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 93 results

Export record to excel

Export this record

Export record to excel

Series 01: Allen & Unwin further records, being editorial files, ca. 1983-2008: Boxes 44-87

Export this record

Export record to excel

PARL deficiency in mouse causes Complex III defects, coenzyme Q depletion, and Leigh-like syndrome

Export this record

Export record to excel

Connective tissue involvement in an m.10191 T > C carrier with Leigh-like syndrome

Export this record

Export record to excel

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency

Export this record

Export record to excel

A Rare Case of Dystonia: Leigh-like Syndrome

Export this record

Export record to excel

Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191T>C in MT-ND3

Export this record

Export record to excel

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency

Export this record

Export record to excel

Hyperkinesias in Leigh-like Syndrome with Complex-I Deficiency Due to m.10191TC in MT-ND3

Export this record

Export record to excel

Extensive clinical and genetic workup is worthwhile in patients with Leigh-like syndrome due to the TSFM variant c.547G>A

Export this record

Export record to excel

Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants

Export this record

Export record to excel

Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome

Export this record

Export record to excel

Leigh-Like Syndrome With a Novel, Complex Phenotype Due to m.10191T>C in Mt-ND3

Export this record

Export record to excel

Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh‐like syndrome

Export this record

Export record to excel

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

Export this record

Export record to excel

An interesting case of Leigh-like syndrome

Export this record

Export record to excel

An interestng case of Leigh-like syndrome

Export this record

Export record to excel

The phenotypic spectrum of PTCD3 deficiency

Export this record

Export record to excel

Molecular basis of Leigh syndrome: a current look

Export this record

Export record to excel

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients

Export this record

Export record to excel

Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly

Refine your search