Cargando…

A Nationwide Survey on Danon Disease in Japan

Danon disease, an X-linked dominant cardioskeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). To clarify the clinicopathological features and management, we performed the first nationwide, questionnaire-based survey on Danon disease in Japan. A tota...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sugie, Kazuma, Komaki, Hirofumi, Eura, Nobuyuki, Shiota, Tomo, Onoue, Kenji, Tsukaguchi, Hiroyasu, Minami, Narihiro, Ogawa, Megumu, Kiriyama, Takao, Kataoka, Hiroshi, Saito, Yoshihiko, Nonaka, Ikuya, Nishino, Ichizo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274850/ https://www.ncbi.nlm.nih.gov/pubmed/30413001 http://dx.doi.org/10.3390/ijms19113507

Ejemplares similares

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
por: Ogasawara, Masashi, et al.
Publicado: (2022)

Accidental hypothermia in Parkinson’s disease
por: Kataoka, Hiroshi, et al.
Publicado: (2018)

Cardiopulmonary dysfunction in patients with limb‐girdle muscular dystrophy 2A
por: Mori‐Yoshimura, Madoka, et al.
Publicado: (2016)

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy
por: Noguchi, Satoru, et al.
Publicado: (2016)

Increased Signal in the Superior Cerebellar Peduncle of Patients with Progressive Supranuclear Palsy
por: Kataoka, Hiroshi, et al.
Publicado: (2019)

A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G > T (p.Gly12Trp) Point Mutation without Polyalanine Expansion
por: Takahashi, Yoshiaki, et al.
Publicado: (2023)

Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency
por: Nguyen, Huan T., et al.
Publicado: (2018)

Risk of Unsuccessful Noninvasive Ventilation for Acute Respiratory Failure in Heterogeneous Neuromuscular Diseases: A Retrospective Study
por: Kataoka, Hiroshi, et al.
Publicado: (2017)

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
por: Ishiyama, Akihiko, et al.
Publicado: (2018)

Rimmed Vacuoles in Becker Muscular Dystrophy Have Similar Features with Inclusion Myopathies
por: Momma, Kazunari, et al.
Publicado: (2012)

High-dose steroid-responsive COVID-19-related encephalopathy with a sudden onset of dysarthria mimicking stroke: a case report
por: Kikutsuji, Naoya, et al.
Publicado: (2022)

A 7‐year‐old female with hypotonia and scoliosis
por: Saito, Yoshihiko, et al.
Publicado: (2022)

Intracranial varicella zoster virus infection may elicit an unusual hyperkinetic volitional tremor
por: Shobatake, Ryogo, et al.
Publicado: (2020)

A nationwide survey on Marinesco-Sjögren syndrome in Japan
por: Goto, Masahide, et al.
Publicado: (2014)

Gene Expression Profiles of Human Cerebral Organoids Identify PPAR Pathway and PKM2 as Key Markers for Oxygen-Glucose Deprivation and Reoxygenation
por: Iwasa, Naoki, et al.
Publicado: (2021)

Milder forms of muscular dystrophy associated with POMGNT2 mutations
por: Endo, Yukari, et al.
Publicado: (2015)

Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome
por: Termglinchan, Thanes, et al.
Publicado: (2016)

A Patient With Encephalomyeloradiculoneuropathy Exhibiting a Relapsing–Remitting Clinical Course: Correlation of Serum and Cerebrospinal Fluid Anti-Neutral Glycosphingolipids Antibodies With Clinical Relapse
por: Nanaura, Hitoki, et al.
Publicado: (2018)

Causative variant profile of collagen VI-related dystrophy in Japan
por: Inoue, Michio, et al.
Publicado: (2021)

Severe cardiac involvement with preserved truncated dystrophin expression in Becker muscular dystrophy by +1G>A DMD splice-site mutation: a case report
por: Komaki, Ryouhei, et al.
Publicado: (2020)

Effect of galvanic vestibular stimulation on axial symptoms in Parkinson’s disease
por: Kataoka, Hiroshi, et al.
Publicado: (2022)

Autophagy dysregulation in Danon disease
por: Nascimbeni, Anna Chiara, et al.
Publicado: (2017)

C9orf72-Derived Proline:Arginine Poly-Dipeptides Modulate Cytoskeleton and Mechanical Stress Response
por: Shiota, Tomo, et al.
Publicado: (2022)

Danon Cardiomyopathy: Specific Imaging Signs
por: Miliou, Antigoni, et al.
Publicado: (2022)

Sporadic Myotonic Dystrophy Type 2 in a Japanese Patient
por: Miyashita, Koichi, et al.
Publicado: (2023)

Multiple cerebral infarctions associated with lung cancer-induced hypereosinophilia: a case report
por: Ozaki, Maki, et al.
Publicado: (2021)

Electroencephalographic findings after convulsive seizures due to cerebral arterial air embolism secondary to lung cancer: a case report
por: Inatomi, Shinichiro, et al.
Publicado: (2022)

Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts
por: Noguchi, Satoru, et al.
Publicado: (2014)

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2016)

Correction: Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2017)

A thromboembolic mechanism in bow hunter's stroke: Importance of hemodynamic evaluation by ultrasonography during head rotation
por: Eura, Nobuyuki, et al.
Publicado: (2020)

Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp)
por: Hatakeyama, Hideyuki, et al.
Publicado: (2015)

Zonisamide for the Efficacy of Sleep Abnormality in Parkinson's Disease (ZEAL Study): A Protocol for Randomized Controlled Trials
por: Kataoka, Hiroshi, et al.
Publicado: (2021)

Cystoid macular edema in a patient with Danon disease
por: Mack, Heather G
Publicado: (2014)

Danon disease for the cardiologist: case report and review of the literature
por: D’souza, Ryan S., et al.
Publicado: (2017)

Clinical and molecular characterization of seven patients with Danon disease
por: Wang, Xuan-Ying, et al.
Publicado: (2021)

Danon disease: a case report and literature review
por: Xu, Jiamin, et al.
Publicado: (2021)

IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy
por: Ishiyama, Akihiko, et al.
Publicado: (2017)

Cardiovascular magnetic resonance findings in a case of Danon disease
por: Piotrowska-Kownacka, Dorota, et al.
Publicado: (2009)

Cone-rod dystrophy can be a manifestation of Danon disease
por: Thiadens, Alberta A. H. J., et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_mr3emhsn1itd4df5tfc1r7lf1h