Autor: "Romero NB" - OpacWWW

Skocz do pozycji: 41.

Tytuł:: Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.
Autorzy:: Biancalana V; Laboratoire Diagnostic Génétique, Faculté de Médecine, CHRU, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091, Strasbourg, France. .; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France. .; Centre National de la Recherche Scientifique, CNRS UMR7104, Illkirch, France. .; Institut National de la Santé et de la Recherche Médicale, INSERM, U964, Illkirch, France. .; Université de Strasbourg, Illkirch, France. .
Romero NB; Center for Research in Myology, GH Pitie-Salpêtrière, Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Paris, France.; Neuromuscular Morphology Unit, Myology Institut, GH La Pitié-Salpêtrière, Paris, France.; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU Paris-GH La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Thuestad IJ; Department of Pediatrics, Skane University Hospital, Malmo, Sweden.
Ignatius J; Department of Clinical Genetics, Turku University Hospital, Turku, Finland.
Kataja J; Department of Paediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.
Gardberg M; Department of Pathology, Turku University Hospital and Institute of Biomedicine, Turku University, Turku, Finland.
Héron D; Service de Génétique clinique et Médicale, CHU Paris-GH La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Malfatti E; Neuromuscular Morphology Unit, Myology Institut, GH La Pitié-Salpêtrière, Paris, France.; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, CHU Paris-GH La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Oldfors A; Department of Pathology, and Genetics, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, IGBMC, Illkirch, France.; Centre National de la Recherche Scientifique, CNRS UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, INSERM, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Pokaż więcej
Źródło:: Acta neuropathologica communications [Acta Neuropathol Commun] 2018 Sep 12; Vol. 6 (1), pp. 93. Date of Electronic Publication: 2018 Sep 12.
Typ publikacji:: Letter; Research Support, Non-U.S. Gov't
MeSH Terms:: Dynamins/*genetics
Muscle, Skeletal/*pathology
Mutation/*genetics
Myopathies, Structural, Congenital/*genetics
Myopathies, Structural, Congenital/*pathology
Dynamin II ; Female ; Humans ; Infant ; Male ; Models, Molecular ; Phenotype ; Protein Tyrosine Phosphatases, Non-Receptor/genetics

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Skocz do pozycji: 42.

Tytuł:: Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Autorzy:: Witting N; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Laforêt P; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Paris Cedex, France.
Voermans NC; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Roux-Buisson N; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.; Biochimie Génétique et Moléculaire, Institut de Biologie et Pathologie, CHU, Grenoble, France.
Bompaire F; Neurologie, Hopital d'instruction des Armées Percy, Clamart, France.
Rendu J; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.; Biochimie Génétique et Moléculaire, Institut de Biologie et Pathologie, CHU, Grenoble, France.
Duno M; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Feillet F; Service de Médecine Infantile 1, Centre de Référence des Maladies Héréditaires du Métabolisme, Centre Hospitalier Universitaire Brabois-Enfants, Vandœuvre-lès-Nancy, France.
Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Poulsen NS; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Dahlqvist JR; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Romero NB; Laboratoire de Pathologie Musculaire Risler, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
Fauré J; INSERM U121, Equipe CMyPath, Institut des Neurosciences, Grenoble, France.; Biochimie Génétique et Moléculaire, Institut de Biologie et Pathologie, CHU, Grenoble, France.
Vissing J; Department of Neurology, Copenhagen Neuromuscular Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Behin A; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Groupe Hospitalier Pitié-Salpêtrière, Institut de Myologie, AP-HP, Paris Cedex, France.; Pokaż więcej
Źródło:: Acta neurologica Scandinavica [Acta Neurol Scand] 2018 May; Vol. 137 (5), pp. 452-461. Date of Electronic Publication: 2017 Dec 29.
Typ publikacji:: Journal Article
MeSH Terms:: Myalgia/*genetics
Rhabdomyolysis/*genetics
Ryanodine Receptor Calcium Release Channel/*genetics
Adolescent ; Adult ; Child ; Denmark ; Female ; France ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Myalgia/physiopathology ; Netherlands ; Phenotype ; Rhabdomyolysis/physiopathology ; Syndrome ; Young Adult

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Skocz do pozycji: 43.

Tytuł:: A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
Autorzy:: Rossi D; Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Palmio J; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.
Evilä A; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
Galli L; Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Barone V; Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Caldwell TA; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America.
Policke RA; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America.
Aldkheil E; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America.
Berndsen CE; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America.
Wright NT; Department of Chemistry and Biochemistry, James Madison University, Harrisonburg, Virginia, United States of America.
Malfatti E; Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Brochier G; Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Pierantozzi E; Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Jordanova A; Molecular Neurogenomics Group, University of Antwerp, Antwerp, Belgium.; Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University-Sofia, Sofia, Bulgaria.
Guergueltcheva V; Department of Neurology, Medical university of Sofia, Sofia, Bulgaria.
Romero NB; Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Hackman P; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.
Eymard B; Neuromuscular Morphology Unit, and Reference Center for Neuromuscular Diseases, Myology Institute, Groupe Hospitalier La Pitié-Salpêtrière, Paris, France.
Udd B; Neuromuscular Research Center, Tampere University and University Hospital, Tampere, Finland.; Folkhälsan Institute of Genetics and Department of Medical Genetics, Haartman Institute, University of Helsinki, Helsinki, Finland.; Department of Neurology, Vaasa Central Hospital, Vaasa, Finland.
Sorrentino V; Molecular Medicine Section, Department of Molecular and Developmental Medicine, University of Siena and Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Pokaż więcej
Źródło:: PloS one [PLoS One] 2017 Oct 26; Vol. 12 (10), pp. e0186642. Date of Electronic Publication: 2017 Oct 26 (Print Publication: 2017).
Typ publikacji:: Journal Article
MeSH Terms:: Frameshift Mutation*
Distal Myopathies/*genetics
Filamins/*genetics
Rho Guanine Nucleotide Exchange Factors/*genetics
Adult ; Biopsy ; Distal Myopathies/diagnostic imaging ; Distal Myopathies/pathology ; Female ; Genetic Carrier Screening ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Protein Serine-Threonine Kinases ; Exome Sequencing

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Skocz do pozycji: 44.

Tytuł:: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Autorzy:: Todd EJ; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. .
Yau KS; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. .
Ong R; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. .
Slee J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. .
McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. .
Barnett CP; Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. .
Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. .
Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. .
Akcoren Z; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. .
Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. .
Cairns A; Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_.
Clarke NF; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. .; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, , NSW, Australia. .
Freckmann ML; Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. .
Romero NB; Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org.
Williams D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. .; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. .
Sewry CA; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. .; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. .
Colley A; Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. .
Ryan MM; Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. .
Kiraly-Borri C; Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. .
Sivadorai P; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. .
Allcock RJ; Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. .
Beeson D; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. .
Maxwell S; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. .
Davis MR; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. .
Laing NG; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. .; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. .
Ravenscroft G; Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 17; Vol. 10, pp. 148. Date of Electronic Publication: 2015 Nov 17.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: High-Throughput Nucleotide Sequencing/*methods
Neuromuscular Diseases/*diagnosis
Neuromuscular Diseases/*genetics
Prenatal Diagnosis/*methods
Amino Acid Sequence ; Child ; Child, Preschool ; Cohort Studies ; Female ; High-Throughput Nucleotide Sequencing/trends ; Humans ; Infant ; Infant, Newborn ; Male ; Molecular Sequence Data ; Pedigree ; Prenatal Diagnosis/trends