Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

Perspectives on skeletal muscle stem cells

(2021) F. Relaix et al.   Nature Communications

A form of muscular dystrophy associated with pathogenic variants in JAG2

(2021) Sandra Coppens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cellular and molecular pathways controlling muscle size in response to exercise

(2021) Michael Attwaters et al.   FEBS Journal

Patient-specific iPSC-derived cellular models of LGMDR1

(2021) A.J. Mateos-Aierdi et al.   Stem Cell Research

Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: roles of DUX4 and PAX7

(2021) Christopher R S Banerji et al.   EMBO Molecular Medicine

Collagen-derived dipeptide Pro-Hyp administration accelerates muscle regenerative healing accompanied by less scarring after wounding on the abdominal wall in mice

(2021) Shiro Jimi et al.   Scientific Reports

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

(2021) Raul Juntas Morales et al.   Genes

Novel mutation in the MYH2 gene in a symptomatic neonate with a hereditary myosin myopathy

(2021) K. Oatmen et al.   Journal of Neonatal-Perinatal Medicine

The Satellite Cell at 60: The Foundation Years

(2021) Elise N. Engquist et al.   Journal of Neuromuscular Diseases

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

(2020) E. Servián-Morilla et al.   ACTA NEUROPATHOLOGICA

Skeletal muscle in health and disease

(2020) Jennifer Morgan et al.   Disease Models & Mechanisms

Transcriptional and cytopathological hallmarks of FSHD in chronic DUX4-expressing mice

(2020) Darko Bosnakovski et al.   JOURNAL OF CLINICAL INVESTIGATION

A Family of Laminin α2 Chain-Deficient Mouse Mutants: Advancing the Research on LAMA2-CMD

(2020) Kinga I. Gawlik et al.   Frontiers in Molecular Neuroscience

Mechanisms Regulating Muscle Regeneration: Insights into the Interrelated and Time-Dependent Phases of Tissue Healing

(2020) Laura Forcina et al.   Cells

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

(2020) Anne Filipe et al.   CELL DEATH AND DIFFERENTIATION

Skeletal muscle regeneration in Facioscapulohumeral muscular dystrophy is correlated with pathological severity

(2020) Christopher R S Banerji et al.   HUMAN MOLECULAR GENETICS

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

(2020) Rocio N Villar-Quiles et al.   NEUROLOGY

Myocyte-derived Myomaker expression is required for regenerative fusion but exacerbates membrane instability in dystrophic myofibers

(2020) Michael J. Petrany et al.   JCI Insight

Role of damage and management in muscle hypertrophy: Different behaviors of muscle stem cells in regeneration and hypertrophy

(2020) So-ichiro Fukada et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Using nuclear envelope mutations to explore age-related skeletal muscle weakness

(2020) Edmund Battey et al.   CLINICAL SCIENCE

Myogenin is an essential regulator of adult myofibre growth and muscle stem cell homeostasis

(2020) Massimo Ganassi et al.   eLife

LMNA Mutations G232E and R482L Cause Dysregulation of Skeletal Muscle Differentiation, Bioenergetics, and Metabolic Gene Expression Profile

(2020) Elena V. Ignatieva et al.   Genes

The hallmarks of myotonic dystrophy type 1 muscle dysfunction

(2020) Lauren L. Ozimski et al.   BIOLOGICAL REVIEWS

Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis

(2020) Giulia Ricci et al.   Scientific Reports

Megf10 deficiency impairs skeletal muscle stem cell migration and muscle regeneration

(2020) Chengcheng Li et al.   FEBS Open Bio

Human myotube formation is determined by MyoD–Myomixer/Myomaker axis

(2020) Haifeng Zhang et al.   Science Advances

Update on the genetics of congenital myopathies

(2019) Katarina Pelin et al.   Seminars in Pediatric Neurology

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

(2019) E. Servián-Morilla et al.   Acta Neuropathologica Communications

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model

(2019) Anaïs Fongy et al.   Scientific Reports

A molecular overview of the primary dystroglycanopathies

(2019) Andrea Brancaccio   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

PAX7 target gene repression is a superior FSHD biomarker than DUX4 target gene activation, associating with pathological severity and identifying FSHD at the single-cell level

(2019) Christopher R S Banerji et al.   HUMAN MOLECULAR GENETICS

Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy

(2019) René G. Feichtinger et al.   GENETICS IN MEDICINE

A novel bi‐allelic loss‐of‐function variant in MYOD1 : Further evidence for gene‐disease association and phenotypic variability in MYOD1 ‐related myopathy

(2019) Anju Shukla et al.   CLINICAL GENETICS

Nemaline myopathies: a current view

(2019) Caroline A. Sewry et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Metascape provides a biologist-oriented resource for the analysis of systems-level datasets

(2019) Yingyao Zhou et al.   Nature Communications

SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance

(2019) Ersilia Varone et al.   Redox Biology

Muscular dystrophies

(2019) Eugenio Mercuri et al.   LANCET

Myopalladin promotes muscle growth through modulation of the serum response factor pathway

(2019) Maria Carmela Filomena et al.   Journal of Cachexia Sarcopenia and Muscle

Coding Cell Identity of Human Skeletal Muscle Progenitor Cells Using Cell Surface Markers: Current Status and Remaining Challenges for Characterization and Isolation

(2019) Sin-Ruow Tey et al.   Frontiers in Cell and Developmental Biology

The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

(2019) Louise Benarroch et al.   NEUROMUSCULAR DISORDERS

Human muscle-derived CLEC14A-positive cells regenerate muscle independent of PAX7

(2019) Andreas Marg et al.   Nature Communications

Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle

(2018) Jun Shi et al.   HUMAN MOLECULAR GENETICS

Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging

(2018) Xuelin Feng et al.   MUSCLE & NERVE

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes

(2018) Elizabeth Harris et al.   NEUROMUSCULAR DISORDERS

Nuclear Lamins: Thin Filaments with Major Functions

(2018) Rebecca de Leeuw et al.   TRENDS IN CELL BIOLOGY

Basal lamina remodeling at the skeletal muscle stem cell niche mediates stem cell self-renewal

(2018) Shantisree Sandeepani Rayagiri et al.   Nature Communications

Reciprocal signalling by Notch–Collagen V–CALCR retains muscle stem cells in their niche

(2018) Meryem B. Baghdadi et al.   NATURE

Satellite cells delivered in their niche efficiently generate functional myotubes in three-dimensional cell culture

(2018) Johanna Prüller et al.   PLoS One

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

(2018) Katherine Johnson et al.   Skeletal Muscle

MYOD1 involvement in myopathy

(2018) F. Lopes et al.   EUROPEAN JOURNAL OF NEUROLOGY

PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

(2018) Huaiyu Mi et al.   NUCLEIC ACIDS RESEARCH

Myogenin promotes myocyte fusion to balance fibre number and size

(2018) Massimo Ganassi et al.   Nature Communications

Satellite cells maintain regenerative capacity but fail to repair disease-associated muscle damage in mice with Pompe disease

(2018) Gerben J. Schaaf et al.   Acta Neuropathologica Communications

Satellite cells fail to contribute to muscle repair but are functional in Pompe disease (glycogenosis type II)

(2018) Lydie Lagalice et al.   Acta Neuropathologica Communications

Impaired fetal muscle development and JAK-STAT activation mark disease onset and progression in a mouse model for merosin-deficient congenital muscular dystrophy

(2017) Andreia M. Nunes et al.   HUMAN MOLECULAR GENETICS

Consequences of MEGF10 deficiency on myoblast function and Notch1 interactions

(2017) Madhurima Saha et al.   HUMAN MOLECULAR GENETICS

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay

(2017) Regina Proskorovski-Ohayon et al.   HUMAN MUTATION

Diaphragmatic dysfunction in SEPN1-related myopathy

(2017) Serena Caggiano et al.   NEUROMUSCULAR DISORDERS

Pax7 remodels the chromatin landscape in skeletal muscle stem cells

(2017) Karin C. Lilja et al.   PLoS One

Control of muscle formation by the fusogenic micropeptide myomixer

(2017) Pengpeng Bi et al.   SCIENCE

Function of the myogenic regulatory factors Myf5, MyoD, Myogenin and MRF4 in skeletal muscle, satellite cells and regenerative myogenesis

(2017) Peter S. Zammit   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

The myogenic regulatory factors, determinants of muscle development, cell identity and regeneration

(2017) J. Manuel Hernández-Hernández et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Delta-Like 4 Activates Notch 3 to Regulate Self-Renewal in Skeletal Muscle Stem Cells

(2017) SiewHui Low et al.   STEM CELLS

PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle

(2017) Christopher R. S. Banerji et al.   Nature Communications

Muscle pathology from stochastic low level DUX4 expression in an FSHD mouse model

(2017) Darko Bosnakovski et al.   Nature Communications

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

(2017) Silvio Alessandro Di Gioia et al.   Nature Communications

Quiescence of human muscle stem cells is favored by culture on natural biopolymeric films

(2017) Claire Monge et al.   Stem Cell Research & Therapy

In Situ Fixation Redefines Quiescence and Early Activation of Skeletal Muscle Stem Cells

(2017) Léo Machado et al.   Cell Reports

Requirement of myomaker-mediated stem cell fusion for skeletal muscle hypertrophy

(2017) Qingnian Goh et al.   eLife

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

(2017) Mehmet E. Yalvac et al.   Skeletal Muscle

An eccentric calpain, CAPN3/p94/calpain-3

(2016) Yasuko Ono et al.   BIOCHIMIE

A heterozygous 21-bp deletion inCAPN3causes dominantly inherited limb girdle muscular dystrophy

(2016) John Vissing et al.   BRAIN

Autophagy regulates satellite cell ability to regenerate normal and dystrophic muscles

(2016) E Fiacco et al.   CELL DEATH AND DIFFERENTIATION

Phosphorylation of eIF2α Is a Translational Control Mechanism Regulating Muscle Stem Cell Quiescence and Self-Renewal

(2016) Victoria Zismanov et al.   Cell Stem Cell

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss

(2016) Emilia Servián‐Morilla et al.   EMBO Molecular Medicine

The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease

(2016) Laurianne Davignon et al.   HUMAN MOLECULAR GENETICS

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia

(2016) Christopher M Watson et al.   JOURNAL OF MEDICAL GENETICS

A Surveillance Function of the HSPB8-BAG3-HSP70 Chaperone Complex Ensures Stress Granule Integrity and Dynamism

(2016) Massimo Ganassi et al.   MOLECULAR CELL

Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novelMegf10mutations

(2016) Teerin Liewluck et al.   MUSCLE & NERVE

Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A

(2016) Madoka Mori-Yoshimura et al.   MUSCLE & NERVE

Autophagy maintains stemness by preventing senescence

(2016) Laura García-Prat et al.   NATURE

Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation

(2016) Kazuko Takayama et al.   NEUROMUSCULAR DISORDERS

DUX4 recruits p300/CBP through its C-terminus and induces global H3K27 acetylation changes

(2016) Si Ho Choi et al.   NUCLEIC ACIDS RESEARCH

Satellite Cell Heterogeneity in Skeletal Muscle Homeostasis

(2016) Matthew T. Tierney et al.   TRENDS IN CELL BIOLOGY

Established cell surface markers efficiently isolate highly overlapping populations of skeletal muscle satellite cells by fluorescence-activated cell sorting

(2016) Claire C. Maesner et al.   Skeletal Muscle

Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines

(2016) Matthew Thorley et al.   Skeletal Muscle

Natural history of LGMD2A for delineating outcome measures in clinical trials

(2016) Isabelle Richard et al.   Annals of Clinical and Translational Neurology

Depletion of Myostatin b Promotes Somatic Growth and Lipid Metabolism in Zebrafish

(2016) Yanping Gao et al.   Frontiers in Endocrinology

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

(2016) Lorenzo Maggi et al.   Cells

The NAD+-Dependent SIRT1 Deacetylase Translates a Metabolic Switch into Regulatory Epigenetics in Skeletal Muscle Stem Cells

(2015) James G. Ryall et al.   Cell Stem Cell

Extraocular muscle satellite cells are high performance myo-engines retaining efficient regenerative capacity in dystrophin deficiency

(2015) Pascal Stuelsatz et al.   DEVELOPMENTAL BIOLOGY

Myomaker, Regulated by MYOD, MYOG and miR-140-3p, Promotes Chicken Myoblast Fusion

(2015) Wen Luo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Whole-body muscle magnetic resonance imaging inSEPN1-related myopathy shows a homogeneous and recognizable pattern

(2015) Karolina Hankiewicz et al.   MUSCLE & NERVE

Mutations inHSPB8causing a new phenotype of distal myopathy and motor neuropathy

(2015) Roula Ghaoui et al.   NEUROLOGY

PAX3 and PAX7 as upstream regulators of myogenesis

(2015) Margaret Buckingham et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth

(2015) Jordan Blondelle et al.   Journal of Molecular Cell Biology

A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups

(2015) Matthew E. Randolph et al.   Frontiers in Aging Neuroscience

Lack of robust satellite cell activation and muscle regeneration during the progression of Pompe disease

(2015) Gerben J. Schaaf et al.   Acta Neuropathologica Communications

HspB8 and Bag3: A new chaperone complex targeting misfolded proteins to macroautophagy

(2014) Serena Carra et al.   Autophagy

Extracellular matrix regulation in the muscle satellite cell niche

(2014) Kelsey Thomas et al.   CONNECTIVE TISSUE RESEARCH

Myomaker is essential for muscle regeneration

(2014) Douglas P. Millay et al.   GENES & DEVELOPMENT

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

(2014) Ankit Garg et al.   JOURNAL OF CLINICAL INVESTIGATION

mTORC1 controls the adaptive transition of quiescent stem cells from G0 to GAlert

(2014) Joseph T. Rodgers et al.   NATURE

Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy

(2013) Satomi Mitsuhashi et al.   FEBS LETTERS

Congenital myopathy is caused by mutation of HACD1

(2013) Emad Muhammad et al.   HUMAN MOLECULAR GENETICS

Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression

(2013) Motoi Kanagawa et al.   HUMAN MOLECULAR GENETICS

Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure

(2013) G. Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Myomaker is a membrane activator of myoblast fusion and muscle formation

(2013) Douglas P. Millay et al.   NATURE

Brief Report: Blockade of Notch Signaling in Muscle Stem Cells Causes Muscular Dystrophic Phenotype and Impaired Muscle Regeneration

(2013) Shuibin Lin et al.   STEM CELLS

Collagen VI regulates satellite cell self-renewal and muscle regeneration

(2013) Anna Urciuolo et al.   Nature Communications

Stac3 is a component of the excitation–contraction coupling machinery and mutated in Native American myopathy

(2013) Eric J. Horstick et al.   Nature Communications

Extensive morphological and immunohistochemical characterization in myotubular myopathy

(2013) Minobu Shichiji et al.   Brain and Behavior

Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment

(2012) Michael W. Lawlor et al.   AMERICAN JOURNAL OF PATHOLOGY

The ever-expanding spectrum of congenital muscular dystrophies

(2012) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Pax3/7BP Is a Pax7- and Pax3-Binding Protein that Regulates the Proliferation of Muscle Precursor Cells by an Epigenetic Mechanism

(2012) Yarui Diao et al.   Cell Stem Cell

Satellite cells are essential for skeletal muscle regeneration: the cell on the edge returns centre stage

(2012) F. Relaix et al.   DEVELOPMENT

Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis

(2012) Andreas Leidenroth et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Slow-dividing satellite cells retain long-term self-renewal ability in adult muscle

(2012) Y. Ono et al.   JOURNAL OF CELL SCIENCE

Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy

(2012) Aaron M. Beedle et al.   JOURNAL OF CLINICAL INVESTIGATION

Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H

(2012) Elena Kudryashova et al.   JOURNAL OF CLINICAL INVESTIGATION

Selenoprotein N in skeletal muscle: from diseases to function

(2012) Perrine Castets et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-κB Signaling

(2012) Sonia Paco et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Impaired regeneration in LGMD2A supported by increased PAX7-positive satellite cell content and muscle-specific microrna dysregulation

(2012) Xiomara Q. Rosales et al.   MUSCLE & NERVE

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

(2012) Jaakko Sarparanta et al.   NATURE GENETICS

Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores

(2012) Steven E. Boyden et al.   NEUROGENETICS

Myogenesis in dysferlin-deficient myoblasts is inhibited by an intrinsic inflammatory response

(2012) Tatiana V. Cohen et al.   NEUROMUSCULAR DISORDERS

Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency

(2012) M. Pane et al.   NEUROMUSCULAR DISORDERS

Alveolar rhabdomyosarcoma-associated proteins PAX3/FOXO1A and PAX7/FOXO1A suppress the transcriptional activity of MyoD-target genes in muscle stem cells

(2012) F Calhabeu et al.   ONCOGENE

Defects in Glycosylation Impair Satellite Stem Cell Function and Niche Composition in the Muscles of the Dystrophic LargemydMouse

(2012) Jacob Ross et al.   STEM CELLS

Satellite cell heterogeneity revealed by G-Tool, an open algorithm to quantify myogenesis through colony-forming assays

(2012) Joseph Ippolito et al.   Skeletal Muscle

Alpha sarcoglycan is required for FGF-dependent myogenic progenitor cell proliferation in vitro and in vivo

(2011) M. Cassano et al.   DEVELOPMENT

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

(2011) Clare V Logan et al.   NATURE GENETICS

SEPN1-related myopathies: Clinical course in a large cohort of patients

(2011) M. Scoto et al.   NEUROLOGY

Uncoordinated Transcription and Compromised Muscle Function in the Lmna-Null Mouse Model of Emery-Dreifuss Muscular Dystrophy

(2011) Viola F. Gnocchi et al.   PLoS One

Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy

(2011) Mathieu Rederstorff et al.   PLoS One

Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders

(2011) Kamel Mamchaoui et al.   Skeletal Muscle

Elevated satellite cell number in Duchenne muscular dystrophy

(2010) Michael Kottlors et al.   CELL AND TISSUE RESEARCH

The depletion of skeletal muscle satellite cells with age is concomitant with reduced capacity of single progenitors to produce reserve progeny

(2010) Kenneth Day et al.   DEVELOPMENTAL BIOLOGY

Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency

(2010) Perrine Castets et al.   HUMAN MOLECULAR GENETICS

Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations

(2010) Juergen Scharner et al.   HUMAN MUTATION

Down-regulation of MyoD by Calpain 3 Promotes Generation of Reserve Cells in C2C12 Myoblasts

(2010) Pascal Stuelsatz et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Selenoprotein function and muscle disease

(2009) Alain Lescure et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

(2009) Perrine Castets et al.   BMC DEVELOPMENTAL BIOLOGY

Muscle satellite cells are a functionally heterogeneous population in both somite-derived and branchiomeric muscles

(2009) Yusuke Ono et al.   DEVELOPMENTAL BIOLOGY

Akirin1 (Mighty), a novel promyogenic factor regulates muscle regeneration and cell chemotaxis

(2009) Mônica Senna Salerno et al.   EXPERIMENTAL CELL RESEARCH

Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects

(2009) Dorianna Sandonà et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy

(2009) Yen-Hui Chiu et al.   HUMAN MOLECULAR GENETICS

Ku70 regulates Bax-mediated pathogenesis in laminin- 2-deficient human muscle cells and mouse models of congenital muscular dystrophy

(2009) V. K. Vishnudas et al.   HUMAN MOLECULAR GENETICS

Loss of nuclear poly(A)-binding protein 1 causes defects in myogenesis and mRNA biogenesis

(2009) Luciano H. Apponi et al.   HUMAN MOLECULAR GENETICS

Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1

(2009) L.-E. Thornell et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy

(2008) Ulrike Schara et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mighty is a novel promyogenic factor in skeletal myogenesis

(2008) Amy Marshall et al.   EXPERIMENTAL CELL RESEARCH

Myostatin promotes the terminal differentiation of embryonic muscle progenitors

(2008) M. Manceau et al.   GENES & DEVELOPMENT

Calpain 3, the “gatekeeper” of proper sarcomere assembly, turnover and maintenance

(2008) Jacques S. Beckmann et al.   NEUROMUSCULAR DISORDERS

Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B

(2008) Young-Eun Park et al.   NEUROMUSCULAR DISORDERS

Muscular dystrophies due to glycosylation defects

(2008) Francesco Muntoni et al.   Neurotherapeutics

Inherited Myopathies and Muscular Dystrophies

(2008) Michael Cardamone et al.   SEMINARS IN NEUROLOGY

Prospective Isolation of Skeletal Muscle Stem Cells with a Pax7 Reporter

(2008) Darko Bosnakovski et al.   STEM CELLS