Muscle dysfunction caused by loss ofMagel2in a mouse model of Prader-Willi and Schaaf-Yang syndromes

Dopamine pathway imbalance in mice lacking Magel2, a Prader-Willi syndrome candidate gene.

(2016) Chloe Luck et al.   BEHAVIORAL NEUROSCIENCE

The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families

(2016) Michael D. Fountain et al.   GENETICS IN MEDICINE

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis

(2015) Dan Mejlachowicz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism

(2015) Hamid Meziane et al.   BIOLOGICAL PSYCHIATRY

New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations

(2015) Montse Olivé et al.   HUMAN MOLECULAR GENETICS

Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in theMagel2-null mouse model of Prader–Willi syndrome

(2015) Igor Pravdivyi et al.   HUMAN MOLECULAR GENETICS

The characteristics of scoliosis in Prader–Willi syndrome (PWS): analysis of 58 scoliosis patients with PWS

(2015) Yutaka Nakamura et al.   JOURNAL OF ORTHOPAEDIC SCIENCE

Role of E2-Ub-conjugating enzymes during skeletal muscle atrophy

(2015) Cecile Polge et al.   Frontiers in Physiology

Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus

(2015) Gianina Ravenscroft et al.   BRAIN

In Silico Screening Based on Predictive Algorithms as a Design Tool for Exon Skipping Oligonucleotides in Duchenne Muscular Dystrophy

(2015) Yusuke Echigoya et al.   PLoS One

Defective Regulation of the Ubiquitin/Proteasome System in the Hypothalamus of Obese Male Mice

(2014) Leticia M. Ignacio-Souza et al.   ENDOCRINOLOGY

Impairment of adipose tissue in Prader–Willi syndrome rescued by growth hormone treatment

(2014) T Cadoudal et al.   INTERNATIONAL JOURNAL OF OBESITY

Impact of denervation-induced muscle atrophy on housekeeping gene expression in mice

(2014) Reiko Nakao et al.   MUSCLE & NERVE

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

Regulation of WASH-Dependent Actin Polymerization and Protein Trafficking by Ubiquitination

(2013) Yi-Heng Hao et al.   CELL

Long-term effects of recombinant human growth hormone therapy in children with Prader–Willi syndrome

(2013) Peter M. Wolfgram et al.   CURRENT OPINION IN PEDIATRICS

Update on Body Composition and Bone Density in Children with Prader-Willi Syndrome

(2013) Daniela A. Rubin et al.   Hormone Research in Paediatrics

Protein breakdown in muscle wasting: Role of autophagy-lysosome and ubiquitin-proteasome

(2013) Marco Sandri   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Deficiency of p62/Sequestosome 1 Causes Hyperphagia Due to Leptin Resistance in the Brain

(2013) H. Harada et al.   JOURNAL OF NEUROSCIENCE

Morpholino Treatment Improves Muscle Function and Pathology of Pitx1 Transgenic Mice

(2013) Sachchida Nand Pandey et al.   MOLECULAR THERAPY

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism

(2013) Christian P Schaaf et al.   NATURE GENETICS

Approach to the diagnosis of congenital myopathies

(2013) Kathryn N. North et al.   NEUROMUSCULAR DISORDERS

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Change in Prevalence of Congenital Defects in Children With Prader-Willi Syndrome

(2013) M. Torrado et al.   PEDIATRICS

Skeletal muscle autophagy: a new metabolic regulator

(2013) Brian A. Neel et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Magel2 Is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice

(2013) Rebecca E. Mercer et al.   PLoS Genetics

Scoliosis in Prader-Willi syndrome: Effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression

(2012) Nobuyuki Murakami et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Energy homeostasis in Prader-Willi Syndrome: How clinical research informs studies of animal models of genetic obesity

(2012) Rebecca E. Mercer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of Autophagy in Pro-opiomelanocortin Neurons Perturbs Axon Growth and Causes Metabolic Dysregulation

(2012) Bérengère Coupé et al.   Cell Metabolism

Loss of autophagy in hypothalamic POMC neurons impairs lipolysis

(2012) Susmita Kaushik et al.   EMBO REPORTS

Role of Hypothalamic Proopiomelanocortin Neuron Autophagy in the Control of Appetite and Leptin Response

(2012) Wenying Quan et al.   ENDOCRINOLOGY

Animal models for scoliosis research: state of the art, current concepts and future perspective applications

(2012) Jean Ouellet et al.   EUROPEAN SPINE JOURNAL

Loss of the Prader–Willi obesity syndrome protein necdin promotes adipogenesis

(2012) Jason Russell Bush et al.   GENE

Prader-Willi syndrome

(2012) Suzanne B. Cassidy et al.   GENETICS IN MEDICINE

The imprinted NPAP1/C15orf2 gene in the Prader–Willi syndrome region encodes a nuclear pore complex associated protein

(2012) Lisa C. Neumann et al.   HUMAN MOLECULAR GENETICS

Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus

(2012) Carlos Dombret et al.   HUMAN MOLECULAR GENETICS

Developmental regulation of MURF E3 ubiquitin ligases in skeletal muscle

(2012) Sue Perera et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs

(2012) M.-L. Bortolin-Cavaille et al.   NUCLEIC ACIDS RESEARCH

Necdin Controls Proliferation of White Adipocyte Progenitor Cells

(2012) Kazushiro Fujiwara et al.   PLoS One

Systems Genetic Analysis of Osteoblast-Lineage Cells

(2012) Gina Calabrese et al.   PLoS Genetics

Nutritional phases in Prader-Willi syndrome

(2011) Jennifer L. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impaired Hypothalamic Regulation of Endocrine Function and Delayed Counterregulatory Response to Hypoglycemia inMagel2-Null Mice

(2011) Alysa A. Tennese et al.   ENDOCRINOLOGY

Muscle-Bone Characteristics in Children with Prader-Willi Syndrome

(2011) Thomas Edouard et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Musculoskeletal Manifestations of Prader-Willi Syndrome

(2011) Jong Sup Shim et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Imprinting analysis of porcine MAGEL2 gene in two fetal stages and association analysis with carcass traits

(2011) Ling Guo et al.   MOLECULAR BIOLOGY REPORTS

Enhancing translation: Guidelines for standard pre-clinical experiments in mdx mice

(2011) Raffaella Willmann et al.   NEUROMUSCULAR DISORDERS

Maged1, a new regulator of skeletal myogenic differentiation and muscle regeneration

(2010) Tuan HN Nguyen et al.   BMC CELL BIOLOGY

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene

(2010) Fabienne Schaller et al.   HUMAN MOLECULAR GENETICS

MAGE-RING Protein Complexes Comprise a Family of E3 Ubiquitin Ligases

(2010) Jennifer M. Doyle et al.   MOLECULAR CELL

Motor problems in Prader–Willi syndrome: A systematic review on body composition and neuromuscular functioning

(2010) Linda Reus et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Antisense PMO Found in Dystrophic Dog Model Was Effective in Cells from Exon 7-Deleted DMD Patient

(2010) Takashi Saito et al.   PLoS One

Regionally reduced brain volume, altered serotonin neurochemistry, and abnormal behavior in mice null for the circadian rhythm output geneMagel2

(2009) Rebecca E. Mercer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Autophagy Is Required to Maintain Muscle Mass

(2009) Eva Masiero et al.   Cell Metabolism

Loss of Magel2, a Candidate Gene for Features of Prader-Willi Syndrome, Impairs Reproductive Function in Mice

(2009) Rebecca E. Mercer et al.   PLoS One

Scoliosis in Prader-Willi syndrome: prevalence, effects of age, gender, body mass index, lean body mass and genotype

(2008) R F A de Lind van Wijngaarden et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Scoliosis in Patients With Prader-Willi Syndrome

(2008) T. Odent et al.   PEDIATRICS

Prader-Willi syndrome: is there a recognizable fetal phenotype?

(2008) Nicole Bigi et al.   PRENATAL DIAGNOSIS