Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series.
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E. Zanoteli | A. Hentschel | Y. Azuma | A. Töpf | Eduardo de Paula Estephan | K. Polavarapu | Andreas Roos | R. Thompson | Hanns Lochmüller | Alessia Pugliese | Adela Della Marina | Ulrike Schara-Schmidt
[1] B. Bartels,et al. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2–4 , 2022, Brain communications.
[2] Julius O. B. Jacobsen,et al. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases , 2022, Human mutation.
[3] R. Horvath,et al. Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease , 2022, Human mutation.
[4] H. Lochmüller,et al. Congenital myasthenic syndrome: Correlation between clinical features and molecular diagnosis , 2021, European journal of neurology.
[5] A. Słowik,et al. Neurogranin and Neuronal Pentraxin Receptor as Synaptic Dysfunction Biomarkers in Alzheimer’s Disease , 2021, Journal of clinical medicine.
[6] I. Nelson,et al. INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. , 2021, Brain : a journal of neurology.
[7] S. Nampoothiri,et al. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations , 2020, BMC Medical Genetics.
[8] B. Gelb,et al. Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment , 2020, American journal of medical genetics. Part C, Seminars in medical genetics.
[9] C. Lorson,et al. AAV9-Stathmin1 gene delivery improves disease phenotype in an intermediate mouse model of Spinal Muscular Atrophy. , 2019, Human molecular genetics.
[10] Hanns Lochmüller,et al. Intersection of Proteomics and Genomics to “Solve the Unsolved” in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases , 2018, Proteomics. Clinical applications.
[11] Hanns Lochmüller,et al. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes , 2018, Human molecular genetics.
[12] R. Zahedi,et al. In-depth phenotyping of lymphoblastoid cells suggests selective cellular vulnerability in Marinesco-Sjögren syndrome , 2017, Oncotarget.
[13] T. Kuntzer,et al. PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain , 2015, BMC Neurology.
[14] H. Rehm,et al. 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, Genetics in Medicine.
[15] Zhon-Yin Zhang,et al. Molecular Basis of Gain-of-Function LEOPARD Syndrome-Associated SHP2 Mutations , 2014, Biochemistry.
[16] S. Perrotta,et al. LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies , 2014, BMC Medical Genetics.
[17] J. Carey,et al. Peripheral muscle weakness in RASopathies , 2012, Muscle & nerve.
[18] Albert Sickmann,et al. Systematic and quantitative comparison of digest efficiency and specificity reveals the impact of trypsin quality on MS-based proteomics. , 2012, Journal of proteomics.
[19] D. Stevenson,et al. The musculoskeletal phenotype of the RASopathies , 2011, American journal of medical genetics. Part C, Seminars in medical genetics.
[20] K. Rauen,et al. Skeletal muscle pathology in Costello and cardio‐facio‐cutaneous syndromes: Developmental consequences of germline Ras/MAPK activation on myogenesis , 2011, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
[21] P. Robinson,et al. Neurofibromin (Nf1) is required for skeletal muscle development. , 2011, Human molecular genetics.
[22] B. Gelb,et al. Noonan syndrome and clinically related disorders. , 2011, Best practice & research. Clinical endocrinology & metabolism.
[23] Saskia B Wortmann,et al. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway , 2011, European Journal of Human Genetics.
[24] J. Allanson,et al. Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines , 2010, Pediatrics.
[25] R. Kucherlapati,et al. A suggested role for mitochondria in Noonan syndrome. , 2010, Biochimica et Biophysica Acta.
[26] H. Peng,et al. The function of Shp2 tyrosine phosphatase in the dispersal of acetylcholine receptor clusters , 2008, BMC Neuroscience.
[27] L. Castagnoli,et al. Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. , 2008, Human molecular genetics.
[28] M. Digilio,et al. Leopard syndrome , 2008, Orphanet journal of rare diseases.
[29] R. Hennekam,et al. LEOPARD syndrome with partly normal skin and sex chromosome mosaicism , 2007, American journal of medical genetics. Part A.
[30] J. Krieger,et al. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. , 2006, Genetic testing.
[31] M. Vidaud,et al. Reduced phosphatase activity of SHP‐2 in LEOPARD syndrome: Consequences for PI3K binding on Gab1 , 2006, FEBS letters.
[32] Bruce D Gelb,et al. Noonan syndrome and related disorders: genetics and pathogenesis. , 2005, Annual review of genomics and human genetics.
[33] G Mortier,et al. PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience , 2004, Journal of Medical Genetics.
[34] H. Ropers,et al. Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome , 2003, European Journal of Human Genetics.
[35] M. Digilio,et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. , 2002, American journal of human genetics.
[36] Bruce D Gelb,et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. , 2002, American journal of human genetics.
[37] Michael A. Patton,et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome , 2001, Nature Genetics.
[38] W. Engel,et al. Novel Immunolocalization of α‐Synuclein in Human Muscle of Inclusion‐Body Myositis, Regenerating and Necrotic Muscle Fibers, and at Neuromuscular Junctions , 2000, Journal of neuropathology and experimental neurology.
[39] T. Pawson,et al. Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp‐2 , 1997, The EMBO journal.
[40] H. T. ter Laak,et al. Myopathology in patients with a Noonan phenotype , 1996, Acta Neuropathologica.
[41] N. Perrimon,et al. The nonreceptor protein tyrosine phosphatase corkscrew functions in multiple receptor tyrosine kinase pathways in Drosophila. , 1996, Developmental biology.
[42] J. Livingston,et al. Insulin Signaling in Mice Expressing Reduced Levels of Syp* , 1996, The Journal of Biological Chemistry.
[43] B. Neel,et al. The SH2-containing protein-tyrosine phosphatase SH-PTP2 is required upstream of MAP kinase for early xenopus development , 1995, Cell.
[44] M. Patton,et al. Cardiologic Abnormalities in Noonan Syndrome: Phenotypic Diagnosis and Echocardiographic Assessment of 118 Patients , 1993, Journal of the American College of Cardiology.
[45] J. Keesey. AAEE minimonograph #33: Electrodiagnostic approach to defects of neuromuscular transmission , 1989, Muscle & nerve.
[46] J. Opitz,et al. Noonan syndrome: a review. , 1985, American journal of medical genetics.
[47] S. Kitsiou-Tzeli,et al. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment , 2011, European Journal of Pediatrics.
[48] B. Gelb,et al. Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. , 2009, Human molecular genetics.
[49] G D'Hont,et al. [The Noonan syndrome]. , 1982, Acta oto-rhino-laryngologica Belgica.