Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Z A M H Zabidi-Hussin"'
Autor:
Masafumi Matsuo, Abdul Qawee Mahyoob Rani, Sarina Sulong, Abdul Razak Salmi, Teguh Haryo Sasongko, David J. Bunyan, Bin Alwi Zilfalil, Z A M H Zabidi-Hussin
Publikováno v:
Journal of Neurogenetics. 27:11-15
We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b239fb27cb6ea05ec1718816f14fc6b
https://doi.org/10.3109/01677063.2012.762580
https://doi.org/10.3109/01677063.2012.762580
Publikováno v:
The Cochrane Library
Background Previous studies have shown potential benefits of rapamycin or rapalogs for treating people with tuberous sclerosis complex. Although everolimus (a rapalog) is currently approved by the FDA (U.S. Food and Drug Administration) and the EMA (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd92959883b1fd81ebaa8ed476a31b5
https://doi.org/10.1002/14651858.cd011272.pub2
https://doi.org/10.1002/14651858.cd011272.pub2
Autor:
Hayati Fatemeh, Surini Yusoff, Che Badariah Ab Aziz, Amin Baig Atif, Marzuki Marini, Teguh Haryo Sasongko, Z A M H Zabidi-Hussin, Abdulqawee Mahyoob Rani, Hisahide Nishio, Gunadi, Bin Alwi Zilfalil
Publikováno v:
Brain and Development. 32:385-389
Background: The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene und
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53d8dc980b978fd39d9baa79846fae8c
https://doi.org/10.1016/j.braindev.2009.06.008
https://doi.org/10.1016/j.braindev.2009.06.008
Autor:
Teguh Haryo Sasongko, Abdul Qawee Mahyoob Rani, Salmi Abdul Razak, Wee Teik Keng, Abdul Rashid Silawati, Nor Azni Yahya, Nur Farrah Dila Ismail, Siti Nabilahuda Mohd Azlan, Lock Hock Ngu, Z A M H Zabidi-Hussin, Narazah Mohd Yusoff, Chia Boon Hock, Nik Mohd Ariff Nik Abdul Malik
Publikováno v:
The Journal of molecular diagnostics : JMD. 19(2)
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotsp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82a405bc6f6ff28feb89de368a960e99
https://pubmed.ncbi.nlm.nih.gov/28087349
https://pubmed.ncbi.nlm.nih.gov/28087349
Autor:
Jafar Mohseni, Fatemeh Hayati, Teguh Haryo Sasongko, Abdul Razak Salmi, Lock Hock Ngu, Mohd Yusof Narazah, Nur Farrah Dila Ismail, Wee Teik Keng, Abdul Rashid Silawati, Abdulqawee Mahyoob Rani, Z A M H Zabidi-Hussin, Nik Mohd Ariff Nik Abdul Malik
Publikováno v:
Japanese journal of clinical oncology. 44(5)
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder affecting multiple organs. Tuberous sclerosis complex is caused by mutation in either one of the two disease-causing genes, TSC1 or TSC2, encoding for hamartin and tuberin, r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f61f18f6c6f91b394d0fee5a439f81d
https://pubmed.ncbi.nlm.nih.gov/24683199
https://pubmed.ncbi.nlm.nih.gov/24683199
Publikováno v:
Molecular genetics and metabolism. 99(2)
Metachromatic leukodystrophy is a neurodegenerative disease that is characterized by a deficiency of arylsulfatase A, resulting in the accumulation of sulfatide and other lipids in the lysosomal network of affected cells. Accumulation of sulfatide in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::670c2ee21cc02c2bbab85593f9dea401
https://pubmed.ncbi.nlm.nih.gov/19815439
https://pubmed.ncbi.nlm.nih.gov/19815439
Autor:
Z A M H, Zabidi-Hussin
Publikováno v:
The Medical journal of Malaysia. 62(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ac96b5fa6156bd2d3426ce643833d917
https://pubmed.ncbi.nlm.nih.gov/18551927
https://pubmed.ncbi.nlm.nih.gov/18551927
Autor:
Amin Baig Atif, Teguh Haryo Sasongko, Bin Alwi Zilfalil, Thean-Hock Tang, Z A M H Zabidi-Hussin, Hayati Fatemeh, M S Watihayati, Wan Mohd Zahiruddin, Marzuki Marini, Hisahide Nishio
Publikováno v:
Braindevelopment. 31(1)
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 gene. The SMN2 gene is highly homologous to SMN1 and has been reported to be correlated with severity of the disease. The clinical presenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5018e25ff8feac890a81bee81ff4881a
https://pubmed.ncbi.nlm.nih.gov/18842367
https://pubmed.ncbi.nlm.nih.gov/18842367
Autor:
Hiroyuki Awano, Mariko Yagi, Bin Alwi Zilfalil, Z A M H Zabidi-Hussin, Teguh Haryo Sasongko, Rusdy Ghazali Malueka, Masafumi Matsuo, Abdul Qawee Mahyoob Rani, Yasuhiro Takeshima, A.B. Razak Salmi, Tomoko Lee
Publikováno v:
Molecular Genetics and Metabolism. 103:303-304
In Duchenne muscular dystrophy (DMD), identification of one nonsense mutation in the DMD gene has been considered an endpoint of genetic diagnosis. Here, we identified two closely spaced nonsense mutations in the DMD gene. In a Malaysian DMD patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e5e285e2e93a2d3e315137bd17543329
https://doi.org/10.1016/j.ymgme.2011.04.002
https://doi.org/10.1016/j.ymgme.2011.04.002
Publikováno v:
Japanese Journal of Clinical Oncology. 44:1130-1130
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70f8f33cbf3ead9207b426d8534c93b2
https://doi.org/10.1093/jjco/hyu157
https://doi.org/10.1093/jjco/hyu157