Cargando…

LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing

Detalles Bibliográficos
Autor principal:	Angelini, Corrado I.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer 2015
Materias:	Editorial
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811386/ https://www.ncbi.nlm.nih.gov/pubmed/27066575 http://dx.doi.org/10.1212/NXG.0000000000000039

Ejemplares similares

Next-Generation Sequencing Identifies Transportin 3 as the Causative Gene for LGMD1F
por: Torella, Annalaura, et al.
Publicado: (2013)

LGMD. Identification, description and classification
por: Angelini, Corrado
Publicado: (2020)

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations
por: Savarese, Marco, et al.
Publicado: (2015)

Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
por: Yu, Meng, et al.
Publicado: (2017)

Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing
por: Izumi, Rumiko, et al.
Publicado: (2015)

Diagnosis by protein analysis of dysferlinopathy in two patients mistaken as polymyositis
por: Angelini, Corrado, et al.
Publicado: (2011)

Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations
por: Finsterer, Josef
Publicado: (2018)

LGMD D2 TNPO3-Related: From Clinical Spectrum to Pathogenetic Mechanism
por: Costa, Roberta, et al.
Publicado: (2022)

Dysferlinopathy course and sportive activity: clues for possible treatment
por: Angelini, C., et al.
Publicado: (2011)

The Author Reply: Genotypic and Phenotypic Heterogeneity of LGMD1D due to DNAJB6 Mutations
por: Kim, Kitae, et al.
Publicado: (2018)

Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
por: Petersen, Jens A., et al.
Publicado: (2015)

Next-Generation Sequencing
por: Xiong, Momiao, et al.
Publicado: (2010)

Therapeutic exon skipping for dysferlinopathies?
por: Aartsma-Rus, Annemieke, et al.
Publicado: (2010)

Dysferlin and Animal Models for Dysferlinopathy
por: Kobayashi, Kinji, et al.
Publicado: (2012)

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States
por: Reddy, Hemakumar M., et al.
Publicado: (2016)

Current and Future Approaches to Classify VUSs in LGMD-Related Genes
por: Li, Chengcheng, et al.
Publicado: (2022)

Heterogeneous Characteristics of Korean Patients with Dysferlinopathy
por: Park, Hyung Jun, et al.
Publicado: (2012)

Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
por: Bouchard, Camille, et al.
Publicado: (2023)

Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
por: Okazaki, Tetsuya, et al.
Publicado: (2020)

Many Faces of Next-Generation Sequencing in Gene Expression Studies
por: Malygin, Alexey A.
Publicado: (2023)

Next generation sequencing and urologic cancer
por: Kim, Seon-Kyu, et al.
Publicado: (2015)

Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results
por: Giugliano, Teresa, et al.
Publicado: (2016)

Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India
por: Ganaraja, Valakunja H., et al.
Publicado: (2021)

Phenotypic Drug Screening for Dysferlinopathy Using Patient‐Derived Induced Pluripotent Stem Cells
por: Kokubu, Yuko, et al.
Publicado: (2019)

Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair
por: Matsuda, Chie, et al.
Publicado: (2015)

Muscle membrane repair and inflammatory attack in dysferlinopathy
por: Han, Renzhi
Publicado: (2011)

Differential Immunohistological Features of Inflammatory Myopathies and Dysferlinopathy
por: Choi, Jae-Hwan, et al.
Publicado: (2009)

Magnetic resonance imaging pattern variability in dysferlinopathy
por: Bardakov, Sergey N., et al.
Publicado: (2021)

Next-generation sequencing still needs our generation's clinicians
por: Foley, A. Reghan, et al.
Publicado: (2015)

Special Issue: Next Generation DNA Sequencing
por: Richardson, Paul
Publicado: (2010)

Next-generation sequencing and its clinical application
por: Qin, Dahui
Publicado: (2019)

Next‐generation sequencing applied in pediatric diseases
por: Yu, Dianke
Publicado: (2018)

The Impact of Next Generation Sequencing in Cancer Research
por: Nones, Katia, et al.
Publicado: (2020)

Next-Generation Sequencing in Tumor Diagnosis and Treatment
por: de Biase, Dario, et al.
Publicado: (2020)

The tale of two genes: from next-generation sequencing to phenotype
por: Rohanizadegan, Mersedeh, et al.
Publicado: (2020)

Editorial for Brain Sciences Special Issue: “Diagnosis of Neurogenetic Disorders: Contribution of Next-Generation Sequencing and Deep Phenotyping”
por: McNeill, Alisdair
Publicado: (2019)

LGMD2I in a North American population
por: Kang, Peter B, et al.
Publicado: (2007)

Tail properties and approximate distribution and expansion for extreme of LGMD
por: Huang, Jianwen, et al.
Publicado: (2017)

PROCEEDINGS OF LGMD days MEETING: Prognosis and Treatment in LGMD October 15-17, 2014 IRCCS "S. Camillo", Lido di Venezia (VE), Italy
Publicado: (2014)

The course forward: next generation sequencing as part of the next generation management of patients with locally advanced cervical cancer
por: Markovina, Stephanie
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_7n3jksbdhnqeo0bu0dqgel42ct