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The ever-expanding spectrum of congenital muscular dystrophies

diterbitkan dalam: Annals of Neurology

tanggal publikasi: 2012-07-01

bahasa: Inggris

subyek utama: Kelainan bawaan

Cites articles 53

Date

Judul

Pengarang

2011-11-08

Flow cytometry analysis: a quantitative method for collagen VI deficiency screening

Sue Brown, Cecilia Jimenez-Mallebrera
2011-03-11

Dystroglycanopathies: coming into focus
2011-03-01

A dystroglycan mutation associated with limb-girdle muscular dystrophy

Stefan Kunz, Kevin P Campbell, Takako Yoshida-Moriguchi
2011-06-01

SEPN1-related myopathies: clinical course in a large cohort of patients
2011-06-01

A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis

Ichizo Nishino, Haluk Topaloglu
2010-10-01

Early onset collagen VI myopathies: Genetic and clinical correlations

Pascale Richard, Thierry Kuntzer, Luciano Merlini, Christine Tranchant, Pascale Guicheney, Denys Chaigne, Annick Toutain, Haluk Topaloglu
2010-09-01

Congenital muscular dystrophies with cognitive impairment. A population study

Sonia Messina, Giacomo P Comi, Angela Berardinelli, Anna Pichiecchio, Enzo Ricci, Simona Saredi, Carla Uggetti, Gessica Vasco, Enrico Bertini, Filippo Maria Santorelli, Chiara Pantaleoni
2010-12-28

Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscle

Dominic J Wells
2010-11-15

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Robert K Semple, Paolo Beck-Peccoz, Irene Campi, Jun Lu, Nicholas J Clemons, John Schwabe, Marcus S Cooke, Pascale Guicheney, Nadia Schoenmakers, Nicholas J. Wareham, Arne Holmgren, Matthijs P Groeneveld, Mehul T Dattani
2010-04-01

Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis

Ana Ferreiro, Sandrine Arbogast
2010-10-31

Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration

Matilde Cescon, Bert Blaauw, Luciano Merlini, Paolo Bernardi
2009-03-18

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study

Sonia Messina, Marina Mora, Giacomo P Comi, Angela Berardinelli, Raffaele Pezzani, Anna Pichiecchio, Enzo Ricci, Alessandra Ruggieri, Simona Saredi, Carmela Scuderi, Carla Uggetti, Gessica Vasco, Enrico Bertini, Isabella Moroni, Filippo Maria Santorelli, Chiara Aiello
2009-01-01

Pathology is alleviated by doxycycline in a laminin-alpha2-null model of congenital muscular dystrophy
2009-12

Omigapil ameliorates the pathology of muscle dystrophy caused by laminin-alpha2 deficiency

Sarina Meinen, Patrizia Barzaghi
2009-07-01

Natural history of Ullrich congenital muscular dystrophy

Cecilia Jimenez-Mallebrera, Emma M Clement
2009-11-01

Autosomal recessive inheritance of classic Bethlem myopathy
2009-06-10

The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1-/- myopathic mice

Paolo Bernardi, Luciano Merlini, Paola Braghetta
2009-03-01

'Congenital muscular dystrophy caused by integrin alpha7 deficiency'.
2009-07

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies

Hisashi Ashida, Martin Lammens, Lambert P van den Heuvel, Frank W M B Preijers
2009-11-10

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy

Sonia Messina, Enrico Bertini, Filippo Maria Santorelli
2009-06

Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment

Ana Ferreiro, Sandrine Arbogast, Francesco Muntoni
2008-11-01

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation

Volker Straub, Haluk Topaloglu, Kathryn North
2008-04-01

A refined diagnostic algorithm for Bethlem myopathy

Hanns Lochmüller
2008-06-01

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.

Kirsty K O'Brien, Cecilia Jimenez-Mallebrera, Kevin M. Flanigan
2008-04-01

Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies

Paola Braghetta, Luciano Merlini, Paolo Bernardi
2008-08-01

De novo LMNA mutations cause a new form of congenital muscular dystrophy.

Enrico Bertini, Monique Ryan, Pascale Guicheney, Rabah Ben Yaou, Adele D'Amico, Gisèle Bonne, Nigel F Clarke
2007-10

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Martin Brockington, Francesco Muntoni, Cecilia Jimenez-Mallebrera, Haluk Topaloglu, Sue Brown, Kathryn North, Volker Straub
2007-09-01

Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

Ichizo Nishino
2006-06-07

A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21.

Jean Mathieu, Bernard Brais, Antoine Duquette, Michel Vanasse
2006-02

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations

Eugenio Mercuri, Martin Brockington, Francesco Muntoni, Angela Berardinelli, Haluk Topaloglu, Anna Pichiecchio, Enzo Ricci, Filippo Maria Santorelli
2006-11

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Martin Brockington, Cecilia Jimenez-Mallebrera, Francesco Muntoni, Sue Brown
2006-03-01

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

Kathryn North, Pascale Guicheney, Nigel F Clarke

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