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    Wyświetlanie 1-9 z 9
    Tytuł:
    A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
    Autorzy:
    Robaszkiewicz K; Department of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
    Siatkowska M; Department of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
    Wadman RI; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, The Netherlands.
    Kamsteeg EJ; Department of Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Chen Z; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.; Department of Neurology, National Neuroscience Institute, Singapore 308433, Singapore.
    Merve A; Department of Neuropathology, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
    Parton M; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
    Bugiardini E; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, The National Hospital for Neurology, London WC1N 3BG, UK.
    de Bie C; Department of Genetics, University Medical Utrecht, 3584 CX Utrecht, The Netherlands.
    Moraczewska J; Department of Biochemistry and Cell Biology, Kazimierz Wielki University, 85-671 Bydgoszcz, Poland.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2023 Nov 09; Vol. 24 (22). Date of Electronic Publication: 2023 Nov 09.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Myopathies, Nemaline*/genetics
    Contracture*/pathology
    Humans ; Child, Preschool ; Actins/genetics ; Tropomyosin/genetics ; Tropomyosin/chemistry ; Muscle Weakness/genetics ; Muscle Weakness/pathology ; Mutation ; Myosins/genetics ; Phenotype ; Troponin/genetics ; Muscle, Skeletal/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Longitudinal prospective cohort study to assess peripheral motor function with extensive electrophysiological techniques in patients with Spinal Muscular Atrophy (SMA): the SMA Motor Map protocol.
    Autorzy:
    Ros LAA; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Goedee HS; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Franssen H; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Asselman FL; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Bartels B; Child Development and Exercise Centre, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Cuppen I; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    van Eijk RPA; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.; Biostatistics and Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Sleutjes BTHM; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology & Neurosurgery, University Medical Center Utrecht, UMC Utrecht Brain Center, Utrecht University, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands. R.I.Wadman@umcutrecht.nl.
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    Źródło:
    BMC neurology [BMC Neurol] 2023 Apr 24; Vol. 23 (1), pp. 164. Date of Electronic Publication: 2023 Apr 24.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Muscular Atrophy, Spinal*/therapy
    Humans ; Longitudinal Studies ; Prospective Studies ; Biomarkers
    SCR Protocol:
    MAP protocol
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Lung function decline preceding chronic respiratory failure in spinal muscular atrophy: a national prospective cohort study.
    Autorzy:
    Veldhoen ES; Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, PO Box 85090, 3508 AB, Utrecht, The Netherlands. .
    Wijngaarde CA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van Eijk RPA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Biostatistics and Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Asselman FL; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Seddiqi N; Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, PO Box 85090, 3508 AB, Utrecht, The Netherlands.
    Otto LAM; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Stam M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Cuppen I; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van Asperen RMW; Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, PO Box 85090, 3508 AB, Utrecht, The Netherlands.
    Hulzebos EHJ; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van den Oudenrijn LPV; Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, PO Box 85090, 3508 AB, Utrecht, The Netherlands.
    Bartels B; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Boezer J; Department of Pediatric Intensive Care, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, PO Box 85090, 3508 AB, Utrecht, The Netherlands.
    Gaytant M; Center of Home Mechanical Ventilation, Department of Pulmonology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Ent CK; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Feb 23; Vol. 18 (1), pp. 40. Date of Electronic Publication: 2023 Feb 23.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Atrophy, Spinal*
    Respiratory Insufficiency*
    Child ; Adult ; Humans ; Adolescent ; Prospective Studies ; Cohort Studies ; Lung ; Vital Capacity ; Forced Expiratory Volume
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study.
    Autorzy:
    Veldhoen ES; Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, PO box 85090, 3508 AB, Utrecht, The Netherlands. .
    Wijngaarde CA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Hulzebos EHJ; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Wösten-van Asperen RM; Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, PO box 85090, 3508 AB, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van Eijk RPA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Biostatistics and Research Support, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Asselman FL; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Stam M; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Otto LAM; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Cuppen I; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Scheijmans FEV; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    den Oudenrijn LPV; Department of Pediatric Intensive Care, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, PO box 85090, 3508 AB, Utrecht, The Netherlands.
    Bartels B; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    Gaytant MA; Department of Pulmonology, Center of Home Mechanical Ventilation, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Ent CK; Department of Pediatric Pulmonology, Wilhelmina Children's Hospital, Member of ERN-LUNG, University Medical Center Utrecht, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
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    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Feb 21; Vol. 17 (1), pp. 70. Date of Electronic Publication: 2022 Feb 21.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Atrophy, Spinal*
    Respiratory Insufficiency*
    Child, Preschool ; Cohort Studies ; Cough ; Humans ; Muscle Strength/physiology ; Prospective Studies ; Respiratory Muscles
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Natural history of lung function in spinal muscular atrophy.
    Autorzy:
    Wijngaarde CA; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    Veldhoen ES; Department of Paediatric Intensive Care, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    van Eijk RPA; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.; Biostatistics & Research Support, Julius Centre for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    Stam M; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    Otto LAM; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    Asselman FL; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    Wösten-van Asperen RM; Department of Paediatric Intensive Care, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    Hulzebos EHJ; Child Development and Exercise Centre, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    Verweij-van den Oudenrijn LP; Department of Paediatric Intensive Care, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    Bartels B; Child Development and Exercise Centre, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    Cuppen I; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    van den Berg LH; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands.
    van der Ent CK; Department of Paediatric Pulmonology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology, UMC Utrecht Brain Centre, University Medical Centre Utrecht, Utrecht University, Heidelberglaan 100, 3508, GA, Utrecht, The Netherlands. .
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Apr 10; Vol. 15 (1), pp. 88. Date of Electronic Publication: 2020 Apr 10.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Muscular Atrophy, Spinal*
    Adult ; Cohort Studies ; Forced Expiratory Volume ; Humans ; Lung ; Vital Capacity
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Assessment of fatigability in patients with spinal muscular atrophy: development and content validity of a set of endurance tests.
    Autorzy:
    Bartels B; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands. .
    Habets LE; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands.
    Stam M; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
    Wijngaarde CA; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
    Schoenmakers MAGC; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands.
    Takken T; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands.
    Hulzebos EHJ; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
    de Groot JF; Child Development and Exercise Center, Wilhelmina Children's Hospital, University Medical Center Utrecht, PO Box 85090, KB 02.056.0, 3508, AB, Utrecht, The Netherlands.; Netherlands Institute for Health Services Research (Nivel), Utrecht, The Netherlands.
    Pokaż więcej
    Źródło:
    BMC neurology [BMC Neurol] 2019 Feb 09; Vol. 19 (1), pp. 21. Date of Electronic Publication: 2019 Feb 09.
    Typ publikacji:
    Journal Article; Validation Study
    MeSH Terms:
    Exercise Test/*methods
    Fatigue/*diagnosis
    Fatigue/*etiology
    Muscular Atrophy, Spinal/*complications
    Adult ; Child ; Child, Preschool ; Exercise Test/standards ; Female ; Humans ; Male ; Outcome Assessment, Health Care ; Physical Endurance ; Pilot Projects
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A continuous repetitive task to detect fatigability in spinal muscular atrophy.
    Autorzy:
    Stam M; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands. .
    Wadman RI; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    Bartels B; Child Development and Exercise Center, Wilhelmina Children's Hospital, Utrecht University, University Medical Center Utrecht, Lundlaan 6, 3584 EA, Utrecht, The Netherlands.
    Leeuw M; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    Westeneng HJ; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    Wijngaarde CA; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    van den Berg LH; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology, Brain Center Rudolf Magnus Institute of Neuroscience, Utrecht University, University Medical Center Utrecht, Heidelberglaan 100, F02.230, 3508 GA, Utrecht, The Netherlands.
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Sep 12; Vol. 13 (1), pp. 160. Date of Electronic Publication: 2018 Sep 12.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Diagnostic Tests, Routine/*methods
    Fatigue/*diagnosis
    Fatigue/*physiopathology
    Muscular Atrophy, Spinal/*diagnosis
    Muscular Atrophy, Spinal/*physiopathology
    Adolescent ; Adult ; Aged ; Case-Control Studies ; Child ; Female ; Humans ; Male ; Middle Aged ; Reproducibility of Results ; Spinal Muscular Atrophies of Childhood/diagnosis ; Spinal Muscular Atrophies of Childhood/physiopathology ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Cardiac pathology in spinal muscular atrophy: a systematic review.
    Autorzy:
    Wijngaarde CA; Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands. .
    Blank AC; Department of Pediatric Cardiology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands.
    Stam M; Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    Wadman RI; Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    van den Berg LH; Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands.
    van der Pol WL; Department of Neurology and Neurosurgery, F02.230, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Heidelberglaan 100, 3508 GA, Utrecht, The Netherlands. .
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Apr 11; Vol. 12 (1), pp. 67. Date of Electronic Publication: 2017 Apr 11.
    Typ publikacji:
    Journal Article; Review; Systematic Review
    MeSH Terms:
    Muscular Atrophy, Spinal/*physiopathology
    Heart/physiopathology ; Humans ; Motor Neurons/metabolism ; Muscular Atrophy, Spinal/metabolism ; Spinal Muscular Atrophies of Childhood/metabolism ; Survival of Motor Neuron 1 Protein/metabolism ; Survival of Motor Neuron 2 Protein/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls.
    Autorzy:
    Wadman RI; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Stam M; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Jansen MD; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    van der Weegen Y; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Wijngaarde CA; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Harschnitz O; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Sodaar P; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Braun KP; Brain Centre Rudolf Magnus, Department of Neurology and Child Neurology, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Dooijes D; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Lemmink HH; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands.
    van den Berg LH; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    van der Pol WL; Brain Centre Rudolf Magnus, Department of Neurology and Neurosurgery, University Medical Centre Utrecht, Utrecht, The Netherlands.
    Pokaż więcej
    Źródło:
    PloS one [PLoS One] 2016 Nov 28; Vol. 11 (11), pp. e0167087. Date of Electronic Publication: 2016 Nov 28 (Print Publication: 2016).
    Typ publikacji:
    Clinical Trial; Comparative Study; Journal Article
    MeSH Terms:
    Biomarkers/*analysis
    Fibroblasts/*metabolism
    Muscular Atrophy, Spinal/*diagnosis
    RNA, Messenger/*genetics
    Adolescent ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Child ; Child, Preschool ; Cross-Sectional Studies ; DNA Copy Number Variations/genetics ; Female ; Fibroblasts/pathology ; Follow-Up Studies ; Humans ; Infant ; Male ; Middle Aged ; Muscular Atrophy, Spinal/blood ; Muscular Atrophy, Spinal/genetics ; Prognosis ; Real-Time Polymerase Chain Reaction ; Survival of Motor Neuron 2 Protein/blood ; Survival of Motor Neuron 2 Protein/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
      Wyświetlanie 1-9 z 9

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