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Neuromuscular Disorders : NMD
|
February 10, 2021
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
Takatoshi Sato, Hiroyuki Awano, Kumiko Ishiguro, et al.
Biochemical and Biophysical Research Communications
|
December 12, 2018
Identification of the shortest splice variant of Dp71, together with five known variants, in glioblastoma cells
Abdul Qawee Mahyoob Rani, Manal Farea, Kazuhiro Maeta, et al.
Cytogenetic and Genome Research
|
January 11, 2018
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a
Erina Suzuki, Ryosuke Bo, Kaori Sue, et al.
Cancer Cell International
|
May 27, 2017
<i>DMD</i> transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification
Emma Tabe Eko Niba, Ryo Yamanaka, Abdul Qawee Mahyoob Rani, et al.
Biomedicines
|
April 29, 2025
Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy
Tetsushi Yamamoto, Shuichiro Ogawa, Yusuke Ide, et al.
Scientific Reports
|
March 19, 2021
Strain-induced modulation of temperature characteristics in ferrimagnetic Tb-Fe films
Shinya Ota, Pham Van Thach, Hiroyuki Awano, et al.
Genes
|
June 26, 2025
Incidence of Homozygous <i>SMN2</i> Deletion in Japan: Cross-Reactivity of <i>SMN2</i> Primers with <i>SMN1</i> Sequence Causes False Negatives in Real-Time PCR Screening
Makoto Sakima, Yoshihiro Bouike, Shin-Ichi Wada, et al.
Genes
|
October 26, 2024
Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
Journal of Human Genetics
|
December 11, 2012
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28
Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
Mariko Yagi, Tomoko Lee, Hiroyuki Awano, et al.
Page
of 16
Search research articles
Search
Showing results (71-80 of 152) with videos related to
Sort By:
Page
of 16
Neuromuscular Disorders : NMD
|
February 10, 2021
Urinary titin as a biomarker in Fukuyama congenital muscular dystrophy
Takatoshi Sato, Hiroyuki Awano, Kumiko Ishiguro, et al.
Biochemical and Biophysical Research Communications
|
December 12, 2018
Identification of the shortest splice variant of Dp71, together with five known variants, in glioblastoma cells
Abdul Qawee Mahyoob Rani, Manal Farea, Kazuhiro Maeta, et al.
Cytogenetic and Genome Research
|
January 11, 2018
A de novo 50-bp GNAS Intragenic Duplication in a Patient with Pseudohypoparathyroidism Type 1a
Erina Suzuki, Ryosuke Bo, Kaori Sue, et al.
Cancer Cell International
|
May 27, 2017
<i>DMD</i> transcripts in CRL-2061 rhabdomyosarcoma cells show high levels of intron retention by intron-specific PCR amplification
Emma Tabe Eko Niba, Ryo Yamanaka, Abdul Qawee Mahyoob Rani, et al.
Biomedicines
|
April 29, 2025
Fragmented QRS in Lateral Leads on Electrocardiography Is Associated with Cardiac Dysfunction and Left Ventricular Dilation in Duchenne Muscular Dystrophy
Tetsushi Yamamoto, Shuichiro Ogawa, Yusuke Ide, et al.
Scientific Reports
|
March 19, 2021
Strain-induced modulation of temperature characteristics in ferrimagnetic Tb-Fe films
Shinya Ota, Pham Van Thach, Hiroyuki Awano, et al.
Genes
|
June 26, 2025
Incidence of Homozygous <i>SMN2</i> Deletion in Japan: Cross-Reactivity of <i>SMN2</i> Primers with <i>SMN1</i> Sequence Causes False Negatives in Real-Time PCR Screening
Makoto Sakima, Yoshihiro Bouike, Shin-Ichi Wada, et al.
Genes
|
October 26, 2024
Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients
Hisahide Nishio, Emma Tabe Eko Niba, Toshio Saito, et al.
Journal of Human Genetics
|
December 11, 2012
Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28
Thi Hoai Thu Tran, Zhujun Zhang, Mariko Yagi, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
A patient with mitochondrial trifunctional protein deficiency due to the mutations in the HADHB gene showed recurrent myalgia since early childhood and was diagnosed in adolescence
Mariko Yagi, Tomoko Lee, Hiroyuki Awano, et al.
Page
of 16