B. Moghadaszadeh

发表

X-Linked Myotubular and Centronuclear Myopathies

A. Beggs, C. Pierson, P. Agrawal, 2005, Journal of neuropathology and experimental neurology.

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

G. Ravenscroft, L. Swanson, A. Beggs, 2014, American journal of human genetics.

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern.

N. Petit, A. Krol, P. Guicheney, 2003, Human molecular genetics.

Sarcomeres regulate cardiomyocyte maturation through MRTF-SRF signaling

Guocheng Yuan, W. Pu, A. Beggs, 2019, bioRxiv.

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.

B. Echenne, H. Topaloglu, A. Ferreiro, 2002, American journal of human genetics.

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)

E. Mercuri, F. Muntoni, S. Counsell, 2002, Neuromuscular Disorders.

Abnormal lysosomal and ubiquitin‐proteasome pathways in 19p13.3 distal myopathy

T. Negri, L. Morandi, F. Cornelio, 2004, Annals of neurology.

Fast‐twitch sarcomeric and glycolytic enzyme protein loss in inclusion body myositis

S. Kong, K. Parker, S. Greenberg, 2009, Muscle & nerve.

Sarcomeres regulate murine cardiomyocyte maturation through MRTF-SRF signaling

Guocheng Yuan, W. Pu, A. Beggs, 2020, Proceedings of the National Academy of Sciences.

Directed evolution of a family of AAV capsid variants enabling potent muscle-directed gene delivery across species

A. Wagers, P. Sabeti, A. Beggs, 2021, Cell.

Compensation for dystrophin-deficiency: ADAM12 overexpression in skeletal muscle results in increased alpha 7 integrin, utrophin and associated glycoproteins.

K. Davies, P. Kronqvist, E. Engvall, 2003, Human molecular genetics.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

F. Muntoni, I. Desguerre, H. Topaloglu, 1998, American journal of human genetics.

Selenoproteins and their impact on human health through diverse physiological pathways.

A. Beggs, B. Moghadaszadeh, 2006, Physiology.

Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7).

J. Beckmann, P. Guicheney, F. Gary, 1999, Biochemical and biophysical research communications.

Mutations in COL 6 A 3 Cause Severe and Mild Phenotypes of Ullrich Congenital Muscular Dystrophy

B. Echenne, H. Topaloglu, A. Ferreiro, 2002 .

Adult-onset nemaline myopathy and monoclonal gammopathy.

G. Bhagat, A. Beggs, C. Keller, 2006, Archives of neurology.

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

F. Muntoni, C. Bönnemann, N. Romero, 2002, American journal of human genetics.

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Alan H Beggs, Bianca Haase, G Diane Shelton, 2015, Skeletal Muscle.

Sarcomeric and nonmuscle α‐actinin isoforms exhibit differential dynamics at skeletal muscle Z‐lines

J. Hartwig, A. Beggs, B. Moghadaszadeh, 2018, Cytoskeleton.

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome

F. Muntoni, N. Petit, C. Jaillard, 2001, Nature Genetics.

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome

F. Muntoni, B. Estournet, A. Barois, 1999, Neuromuscular Disorders.

Isolation and characterization of mouse minisatellites.

A. Jeffreys, R. Neumann, P. Bois, 1998, Genomics.

Cell membrane expression of cardiac sodium channel Na(v)1.5 is modulated by alpha-actinin-2 interaction.

Mohamed Chahine, Alan H Beggs, Hai Huang, 2010, Biochemistry.

ADAM12 induces actin cytoskeleton and extracellular matrix reorganization during early adipocyte differentiation by regulating β1 integrin function

Peter Möller, Marie Kveiborg, P. Möller, 2003, Journal of Cell Science.

ADAM12 alleviates the skeletal muscle pathology in mdx dystrophic mice.

P. Kronqvist, E. Engvall, F. Nielsen, 2002, The American journal of pathology.

Selenoprotein N deficiency in mice is associated with abnormal lung development

R. Grange, A. Beggs, C. Owen, 2013, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion

A. Beggs, M. Lawlor, E. Dechene, 2010, Human mutation.

Time of Occurrence and Age Distribution of Digestive Tract Cancers in Northern Iran

K. Mohammad, H. Zeraati, A. Fotouhi, 2008 .

Adenylosuccinic Acid: An Orphan Drug with Untapped Potential

A. Beggs, E. Rybalka, C. Timpani, 2023, Pharmaceuticals.

A. Beggs, M. Ronan, B. Moghadaszadeh, 2007, Neuromuscular Disorders.

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

A. Beggs, P. Agrawal, M. Perrella, 2023, bioRxiv.