Storage disease and neurological phenotype in autosomal dominant osteopetrosis type 2 (ADO2). A preclinical study

2016 ◽  
Author(s):  
Antonio Maurizi ◽  
Mattia Capulli ◽  
Juliana Cortes ◽  
Laura Di Rito ◽  
Nadia Rucci ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Storage Disease ◽  
Preclinical Study ◽  
Neurological Phenotype ◽  
Autosomal Dominant Osteopetrosis

Radiographic imaging, densitometry and disease severity in Autosomal dominant osteopetrosis type 2

2020 ◽  
Author(s):  
Lauren M. Ladd ◽  
Erik A. Imel ◽  
Paul J. Niziolek ◽  
Ziyue Liu ◽  
Stuart J. Warden ◽  
...  
Keyword(s):  
Disease Severity ◽  
Autosomal Dominant ◽  
Radiographic Imaging ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Transcriptome analysis reveals potential biomarkers of CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2 (ADO2)

Bone Reports ◽  
2020 ◽  
Vol 13 ◽  
pp. 100657
Author(s):  
Iona Norwood ◽  
Denis Szondi ◽  
Nadia Rucci ◽  
Anna Teti ◽  
Antonio Maurizi
Keyword(s):  
Transcriptome Analysis ◽  
Autosomal Dominant ◽  
Potential Biomarkers ◽  
Autosomal Dominant Osteopetrosis

Analysis of variation in expression of autosomal dominant osteopetrosis type 2: Searching for modifier genes

Bone ◽  
2005 ◽  
Vol 37 (5) ◽  
pp. 655-661 ◽  
Author(s):  
Kang Chu ◽  
Daniel L. Koller ◽  
Richard Snyder ◽  
Tonya Fishburn ◽  
Dongbing Lai ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Modifier Genes ◽  
Analysis Of Variation ◽  
Autosomal Dominant Osteopetrosis

A deep phenotyping of autosomal dominant osteopetrosis type 2 (ADO2) mouse model revealed multiorgan dysfunctions

2017 ◽  
Author(s):  
Antonio Maurizi ◽  
Mattia Capulli ◽  
Rajvi Patel ◽  
Nadia Rucci ◽  
Anna Teti
Keyword(s):  
Mouse Model ◽  
Autosomal Dominant ◽  
Deep Phenotyping ◽  
Autosomal Dominant Osteopetrosis

Transcriptomic and bioinformatic analysis of Clcn7-dependent Autosomal Dominant Osteopetrosis type 2. Preclinical and clinical implications

Bone ◽  
2021 ◽  
Vol 144 ◽  
pp. 115828
Author(s):  
Iona Norwood ◽  
Denis Szondi ◽  
Michela Ciocca ◽  
Amélie Coudert ◽  
Martine Cohen-Solal ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Bioinformatic Analysis ◽  
Clinical Implications ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Effective Small Interfering RNA Therapy to Treat CLCN7-dependent Autosomal Dominant Osteopetrosis Type 2

2015 ◽  
Vol 4 ◽  
pp. e248 ◽  
Author(s):  
Mattia Capulli ◽  
Antonio Maurizi ◽  
Luca Ventura ◽  
Nadia Rucci ◽  
Anna Teti
Keyword(s):  
Small Interfering Rna ◽  
Autosomal Dominant ◽  
Interfering Rna ◽  
Autosomal Dominant Osteopetrosis

RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development

Bone ◽  
2018 ◽  
Vol 110 ◽  
pp. 343-354 ◽  
Author(s):  
Antonio Maurizi ◽  
Mattia Capulli ◽  
Rajvi Patel ◽  
Annabel Curle ◽  
Nadia Rucci ◽  
...  
Keyword(s):  
Rna Interference ◽  
Autosomal Dominant ◽  
Preclinical Development ◽  
Autosomal Dominant Osteopetrosis

scholarly journals Extra-skeletal manifestations in mice affected by Clcn7-dependent autosomal dominant osteopetrosis type 2 clinical and therapeutic implications

Bone Research ◽  
2019 ◽  
Vol 7 (1) ◽  
Author(s):  
Antonio Maurizi ◽  
Mattia Capulli ◽  
Annabel Curle ◽  
Rajvi Patel ◽  
Argia Ucci ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Therapeutic Implications ◽  
Autosomal Dominant Osteopetrosis
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