Found: 50
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Costello syndrome: clinical diagnosis in the first year of life.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Familial recurrence of congenital heart disease: an overview and review of the literature.
- Published in:
- 2007
- By:
- Publication type:
- journal article
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype".
- Published in:
- 2006
- By:
- Publication type:
- journal article
Leopard syndrome.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Leopard syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-13
- By:
- Publication type:
- Article
KBG syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2006, v. 1, p. 50, doi. 10.1186/1750-1172-1-50
- By:
- Publication type:
- Article
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Secondary outcomes of scoliosis surgery in disease‐modifying treatment‐naïve patients with spinal muscular atrophy type 2 and nonambulant type 3.
- Published in:
- Muscle & Nerve, 2024, v. 70, n. 5, p. 1000, doi. 10.1002/mus.28238
- By:
- Publication type:
- Article
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
- Published in:
- Nature Genetics, 2009, v. 41, n. 9, p. 1022, doi. 10.1038/ng.425
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- Publication type:
- Article
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
- Published in:
- Nature Genetics, 2007, v. 39, n. 8, p. 1007, doi. 10.1038/ng2073
- By:
- Publication type:
- Article
Corrigendum: Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
- Published in:
- 2007
- By:
- Publication type:
- Correction Notice
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
- Published in:
- Nature Genetics, 2007, v. 39, n. 1, p. 75, doi. 10.1038/ng1939
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- Publication type:
- Article
Genotype‐related respiratory progression in Duchenne muscular dystrophy—A multicenter international study.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 1, p. 67, doi. 10.1002/mus.27427
- By:
- Publication type:
- Article
Prophylactic oral bisphosphonate therapy in duchenne muscular dystrophy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Neuromuscular disorders and 2010: recent advances.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 12, p. 2117, doi. 10.1007/s00415-010-5745-7
- By:
- Publication type:
- Article
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 69, doi. 10.1038/ejhg.2012.109
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- Publication type:
- Article
Phenotypic heterogeneity in British patients with a founder mutation in the FHL1 gene.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 10, p. 1038, doi. 10.1038/ejhg.2011.84
- By:
- Publication type:
- Article
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 733, doi. 10.1038/ejhg.2008.256
- By:
- Publication type:
- Article
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1069, doi. 10.1038/sj.ejhg.5201290
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- Publication type:
- Article
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 4, p. 349, doi. 10.1038/sj.ejhg.5200956
- By:
- Publication type:
- Article
Undiagnosed Genetic Muscle Disease in the North of England: an in Depth Phenotype Analysis.
- Published in:
- PLoS Currents, 2013, p. 986, doi. 10.1371/currents.md.37f840ca67f5e722945ecf755f40487e
- By:
- Publication type:
- Article
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A founder mutation in Anoctamin 5 is a major cause of limb girdle muscular dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 171, doi. 10.1093/brain/awq294
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- Publication type:
- Article
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1067, doi. 10.3233/JND-240029
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- Publication type:
- Article
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys.
- Published in:
- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 153, doi. 10.3233/JND-230159
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- Publication type:
- Article
RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 135, doi. 10.3233/JND-221609
- By:
- Publication type:
- Article
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 7, p. 1219, doi. 10.1002/acn3.51816
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- Publication type:
- Article
GGPS1-associated muscular dystrophy with and without hearing loss.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1465, doi. 10.1002/acn3.51633
- By:
- Publication type:
- Article
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2288, doi. 10.1002/acn3.51218
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- Publication type:
- Article
LAMA2‐related muscular dystrophy: Natural history of a large pediatric cohort.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1870, doi. 10.1002/acn3.51172
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- Publication type:
- Article
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
- Published in:
- Science Translational Medicine, 2017, v. 9, n. 386, p. 1, doi. 10.1126/scitranslmed.aal5209
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- Publication type:
- Article
Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis.
- Published in:
- 2012
- By:
- Publication type:
- Letter
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
- Published in:
- Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab075
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- Publication type:
- Article
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 9, p. 2353, doi. 10.1093/hmg/ddt637
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- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 2079, doi. 10.1093/hmg/ddr083
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- Publication type:
- Article
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.
- Published in:
- Frontiers in Molecular Neuroscience, 2020, v. 13, p. N.PAG, doi. 10.3389/fnmol.2020.00123
- By:
- Publication type:
- Article
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 1, p. 170, doi. 10.1002/ana.26934
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- Publication type:
- Article
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1980, doi. 10.1002/humu.23635
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- Publication type:
- Article
Cover Image, Volume 39, Issue 10.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. i, doi. 10.1002/humu.23622
- By:
- Publication type:
- Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
- Published in:
- Human Mutation, 2018, v. 39, n. 10, p. 1428, doi. 10.1002/humu.23593
- By:
- Publication type:
- Article
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 970, doi. 10.1002/humu.23262
- By:
- Publication type:
- Article
ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation.
- Published in:
- Human Mutation, 2013, v. 34, n. 8, p. 1111, doi. 10.1002/humu.22342
- By:
- Publication type:
- Article
Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene associated myopathies.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1310, doi. 10.1002/humu.22136
- By:
- Publication type:
- Article
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.
- Published in:
- Human Mutation, 2009, v. 30, n. 4, p. 695, doi. 10.1002/humu.20955
- By:
- Publication type:
- Article
Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 3, p. 265, doi. 10.1002/humu.20431
- By:
- Publication type:
- Article
Enhanced excitation-coupled Ca2+ entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 3, p. 589, doi. 10.1093/hmg/ddq506
- By:
- Publication type:
- Article
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot.
- Published in:
- 2003
- By:
- Publication type:
- Erratum
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot(Communicated by Arnold Munnich).
- Published in:
- Human Mutation, 2003, v. 22, n. 5, p. 372, doi. 10.1002/humu.10261
- By:
- Publication type:
- Article
Becker muscular dystrophy associated with sarcomeric hypertrophic cardiomyopathy in a paediatric patient: a case report.
- Published in:
- European Heart Journal Case Reports, 2019, v. 3, n. 3, p. N.PAG, doi. 10.1093/ehjcr/ytz117
- By:
- Publication type:
- Article