Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

(2022) Steven Laurie et al.   HUMAN MUTATION

Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease

(2022) Andrea Gangfuß et al.   HUMAN MUTATION

INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH

(2021) Denisa Hathazi et al.   BRAIN

Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis

(2021) Eduardo P. Estephan et al.   EUROPEAN JOURNAL OF NEUROLOGY

Neurogranin and Neuronal Pentraxin Receptor as Synaptic Dysfunction Biomarkers in Alzheimer’s Disease

(2021) Maciej Dulewicz et al.   Journal of Clinical Medicine

Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment

(2020) Léa Linglart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

(2020) Jeevana Praharsha Athota et al.   BMC Medical Genetics

AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of Spinal Muscular Atrophy

(2019) Eric Villalón et al.   HUMAN MOLECULAR GENETICS

SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody

(2019) Saif Huda et al.   Neurology-Neuroimmunology & Neuroinflammation

The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes

(2018) Grace McMacken et al.   HUMAN MOLECULAR GENETICS

The Gliotransmitter d-Serine Promotes Synapse Maturation and Axonal Stabilization In Vivo

(2017) Marion R. Van Horn et al.   JOURNAL OF NEUROSCIENCE

Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases

(2017) Andreas Roos et al.   Proteomics Clinical Applications

In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome

(2017) Laxmikanth Kollipara et al.   Oncotarget

PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain

(2015) Marianna Spatola et al.   BMC Neurology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations

(2014) Zhi-Hong Yu et al.   BIOCHEMISTRY

LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies

(2014) Claudia Santoro et al.   BMC Medical Genetics

Counteracting Effects Operating on Src Homology 2 Domain-containing Protein-tyrosine Phosphatase 2 (SHP2) Function Drive Selection of the Recurrent Y62D and Y63C Substitutions in Noonan Syndrome

(2012) Simone Martinelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Peripheral muscle weakness in RASopathies

(2012) David A. Stevenson et al.   MUSCLE & NERVE

The musculoskeletal phenotype of the RASopathies

(2011) David A. Stevenson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Skeletal muscle pathology in Costello and cardio-facio-cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis

(2011) William E. Tidyman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Noonan syndrome and clinically related disorders

(2011) Marco Tartaglia et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment

(2011) Anna Papadopoulou et al.   EUROPEAN JOURNAL OF PEDIATRICS

Neurofibromin (Nf1) is required for skeletal muscle development

(2011) Nadine Kossler et al.   HUMAN MOLECULAR GENETICS

Stathmin is Required for Stability of the Drosophila Neuromuscular Junction

(2011) E. R. Graf et al.   JOURNAL OF NEUROSCIENCE

Noonan syndrome

(2011) Anne M Turner   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

Systematic and quantitative comparison of digest efficiency and specificity reveals the impact of trypsin quality on MS-based proteomics

(2011) Julia Maria Burkhart et al.   Journal of Proteomics

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

(2010) Tjitske Kleefstra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Excess of Neuromuscular Spindles in a Fetus with Costello Syndrome: A Clinicopathological Report

(2010) Martine Sinico et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines

(2010) A. A. Romano et al.   PEDIATRICS

A suggested role for mitochondria in Noonan syndrome

(2009) Icksoo Lee et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

PTPN11 Mutations in LEOPARD Syndrome: Report of Four Cases in Taiwan

(2009) I-Shou Lin et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

The function of Shp2 tyrosine phosphatase in the dispersal of acetylcholine receptor clusters

(2008) Yueping K Qian et al.   BMC NEUROSCIENCE

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development

(2008) Kimihiko Oishi et al.   HUMAN MOLECULAR GENETICS

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes

(2008) Simone Martinelli et al.   HUMAN MOLECULAR GENETICS

Leopard syndrome

(2008) Anna Sarkozy et al.   Orphanet Journal of Rare Diseases