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Tytuł :
Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis.
Autorzy :
Huijbers MG; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands. Electronic address: m.g.m..
Niks EH; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands.
Klooster R; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
de Visser M; Department of Neurology, Amsterdam Medical Center, Amsterdam, Netherlands.
Kuks JB; Department of Neurology, University Medical Center Groningen, Groningen, Netherlands.
Veldink JH; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Klarenbeek P; Department of Neurology, Zuyderland Medical Center, Heerlen, Netherlands.
Van Damme P; Department of Neurosciences, VIB - Vesalius Research Center, Experimental Neurology - Laboratory of Neurobiology, KU Leuven - University of Leuven, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
de Baets MH; Department of Neurosciences, Maastricht University, Maastricht, Netherlands.
van der Maarel SM; Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
van den Berg LH; Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands.
Verschuuren JJ; Department of Neurology, Leiden University Medical Center, Leiden, Netherlands.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2016 Jun; Vol. 26 (6), pp. 350-3. Date of Electronic Publication: 2016 Apr 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Autoantibodies/*blood
Myasthenia Gravis/*diagnosis
Myasthenia Gravis/*immunology
Receptor Protein-Tyrosine Kinases/*immunology
Receptors, Cholinergic/*immunology
Aged ; Amyotrophic Lateral Sclerosis/diagnosis ; Biomarkers/blood ; Diagnostic Errors ; Female ; Humans ; Male ; Middle Aged ; Myasthenia Gravis/drug therapy ; Myasthenia Gravis/enzymology
Czasopismo naukowe
Tytuł :
Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled.
Autorzy :
van de Vlekkert J; Department of Neurology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. Electronic address: .
Hoogendijk JE; Rudolf Magnus Institute for Neuroscience, Department of Neurology, University Medical Center Utrecht, Heidelberglaan 100, 3584 CX Utrecht, The Netherlands.
de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 Jun; Vol. 25 (6), pp. 451-6. Date of Electronic Publication: 2015 Mar 06.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Myositis, Inclusion Body/*pathology
Adult ; Aged ; Disease Progression ; Female ; Humans ; Male ; Middle Aged ; Myositis, Inclusion Body/epidemiology ; Sex Factors ; Vacuoles/pathology
Czasopismo naukowe
Tytuł :
Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies.
Autorzy :
Jaeger B; Department of Neurology, Academic Medical Centre, Amsterdam. Electronic address: .
de Visser M; Department of Neurology, Academic Medical Centre, Amsterdam.
Aronica E; Department of Pathology, Academic Medical Centre, Amsterdam.
van der Kooi AJ; Department of Neurology, Academic Medical Centre, Amsterdam.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 Jun; Vol. 25 (6), pp. 457-60. Date of Electronic Publication: 2015 Apr 01.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Autoimmune Diseases/*diagnosis
Myositis/*diagnosis
Respiratory Insufficiency/*complications
Antibodies ; Autoimmune Diseases/complications ; Autoimmune Diseases/drug therapy ; Autoimmune Diseases/immunology ; DEAD-box RNA Helicases/immunology ; Female ; Humans ; Interferon-Induced Helicase, IFIH1 ; Middle Aged ; Muscle, Skeletal/pathology ; Myositis/complications ; Myositis/drug therapy ; Myositis/immunology ; Necrosis
Czasopismo naukowe
Tytuł :
205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands.
Autorzy :
De Bleecker JL; Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: .
De Paepe B; Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium.
Aronica E; Department of (Neuro)Pathology, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Amato A; Brigham and Women's Hospital, Harvard Medical School, Boston, USA.
Aronica E; Academic Medical Center, Amsterdam, The Netherlands.
Benveniste O; Hôpital Pitié-Salpétrière, Paris, France.
De Bleecker J; Ghent University Hospital, Belgium.
de Boer O; Academic Medical Center, Amsterdam, The Netherlands.
De Paepe B; Ghent University Hospital, Belgium.
de Visser M; Academic Medical Center, Amsterdam, The Netherlands.
Dimachkie M; Kansas University Medical Centre, Kansas City, USA.
Gherardi R; Université Paris Est, Creteil, France.
Goebel HH; Mainz University Medical Centre, Mainz, Germany.
Hilton-Jones D; John Radcliffe Hospital, Headington Oxford, UK.
Holton J; University College London, London, UK.
Lundberg IE; Karolinska Institutet, Stockholm, Sweden.
Mammen A; Johns Hopkins University, Baltimore, USA.
Mastaglia F; University of Western Australia, Perth, Australia.
Nishino I; National Center of Neurology and Psychiatry, Kodaira Tokyo, Japan.
Rushing E; Zurich University Hospital, Zurich, Switzerland.
Schroder HD; Odense University Hospital, Odense, Denmark.
Selcen D; Mayo Clinic, Rochester, MN, USA.
Stenzel W; Charité University, Berlin, Germany.
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Corporate Authors :
ENMC Myositis Muscle Biopsy Study Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 Mar; Vol. 25 (3), pp. 268-72. Date of Electronic Publication: 2014 Dec 10.
Typ publikacji :
Congress; Research Support, Non-U.S. Gov't
MeSH Terms :
Myositis/*diagnosis
Myositis/*pathology
Biopsy/methods ; Coloring Agents ; Consensus ; Humans ; Muscles/pathology ; Myositis/classification ; Netherlands
Raport
Tytuł :
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
Autorzy :
Ten Dam L; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
van der Kooi AJ; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address: .
Rövekamp F; Department of Neurology, Sint Lucas Andreas Ziekenhuis, Amsterdam, The Netherlands.
Linssen WH; Department of Neurology, Sint Lucas Andreas Ziekenhuis, Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2014 Dec; Vol. 24 (12), pp. 1097-102. Date of Electronic Publication: 2014 Aug 01.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Chloride Channels/*genetics
Distal Myopathies/*genetics
Distal Myopathies/*pathology
Membrane Proteins/*genetics
Muscle Proteins/*genetics
Muscular Atrophy/*genetics
Muscular Atrophy/*pathology
Muscular Dystrophies, Limb-Girdle/*genetics
Muscular Dystrophies, Limb-Girdle/*pathology
Adolescent ; Adult ; Anoctamins ; Child ; Cross-Sectional Studies ; Dysferlin ; Female ; Humans ; Hypertrophy/genetics ; Hypertrophy/pathology ; Leg/pathology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Muscle Weakness/genetics ; Muscle Weakness/physiopathology ; Muscle, Skeletal/pathology ; Phenotype ; Retrospective Studies ; Tomography, X-Ray Computed ; Young Adult
SCR Disease Name :
Miyoshi myopathy
Czasopismo naukowe
Tytuł :
Rhabdomyolysis: review of the literature.
Autorzy :
Zutt R; Department of Neurology, Academic Medical Center, University of Amsterdam/University Medical Center Groningen, The Netherlands.
van der Kooi AJ; Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands. Electronic address: .
Linthorst GE; Department of Internal Medicine/Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, The Netherlands.
Wanders RJ; Department of Paediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands.
de Visser M; Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2014 Aug; Vol. 24 (8), pp. 651-9. Date of Electronic Publication: 2014 May 21.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Rhabdomyolysis/*diagnosis
Rhabdomyolysis/*therapy
Animals ; Humans ; Rhabdomyolysis/genetics ; Rhabdomyolysis/physiopathology
Czasopismo naukowe
Tytuł :
193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November - 2 December 2012, Naarden, The Netherlands.
Autorzy :
De Bleecker JL; Department of Neurology, Ghent University Hospital, De Pintelaan 185, 9000 Ghent, Belgium. Electronic address: .
Lundberg IE
de Visser M
Pokaż więcej
Corporate Authors :
ENMC Myositis Muscle Biopsy Study Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Nov; Vol. 23 (11), pp. 945-51. Date of Electronic Publication: 2013 Sep 04.
Typ publikacji :
Congress
MeSH Terms :
Myositis/*pathology
Biopsy ; Humans ; Myositis/classification ; Netherlands
Tytuł :
Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study.
Autorzy :
Mazzone E; Department of Paediatric Neurology, Catholic University, Rome, Italy.
Bianco F
Main M
van den Hauwe M
Ash M
de Vries R
Fagoaga Mata J
Stein S
De Sanctis R
D'Amico A
Palermo C
Fanelli L
Scoto MC
Mayhew A
Eagle M
Vigo M
Febrer A
Korinthenberg R
de Visser M
Bushby K
Muntoni F
Goemans N
Sormani MP
Bertini E
Pane M
Mercuri E
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Aug; Vol. 23 (8), pp. 624-8. Date of Electronic Publication: 2013 Jul 01.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms :
Exercise Test*
Exercise Therapy/*methods
Spinal Muscular Atrophies of Childhood/*rehabilitation
Adolescent ; Adult ; Analysis of Variance ; Atrophy ; Child ; Child, Preschool ; Female ; Humans ; International Cooperation ; Longitudinal Studies ; Male ; Middle Aged ; Outcome Assessment, Health Care ; Spinal Muscular Atrophies of Childhood/etiology ; Walking ; Young Adult
Czasopismo naukowe
Tytuł :
ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
Autorzy :
van der Kooi AJ; Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. />Ten Dam L
Frankhuizen WS
Straathof CS
van Doorn PA
de Visser M
Ginjaar IB
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Jun; Vol. 23 (6), pp. 456-60. Date of Electronic Publication: 2013 Apr 19.
Typ publikacji :
Journal Article
MeSH Terms :
Chloride Channels/*genetics
Distal Myopathies/*genetics
Muscle Proteins/*genetics
Muscular Atrophy/*genetics
Muscular Dystrophies, Limb-Girdle/*genetics
Mutation/*genetics
Adult ; Aged ; Anoctamins ; Cohort Studies ; Distal Myopathies/diagnosis ; Female ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Muscular Atrophy/diagnosis ; Muscular Dystrophies, Limb-Girdle/diagnosis ; Netherlands ; Pedigree ; Young Adult
SCR Disease Name :
Miyoshi Muscular Dystrophy 3; Muscular Dystrophy, Limb-Girdle, Type 2L
Czasopismo naukowe
Tytuł :
Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands.
Autorzy :
Stalpers XL; Department of Pediatric Neurology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands. />Verrips A
Poll-The BT
Cobben JM
Snoeck IN
de Coo IF
Brooks A
Bulk S
Gooskens R
Fock A
Verschuuren-Bemelmans C
Sinke RJ
de Visser M
Lemmink HH
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Jun; Vol. 23 (6), pp. 461-8. Date of Electronic Publication: 2013 Apr 06.
Typ publikacji :
Journal Article
MeSH Terms :
Muscle Weakness/*genetics
Muscular Atrophy, Spinal/*genetics
Mutation/*genetics
Respiratory Distress Syndrome, Newborn/*genetics
Spinal Muscular Atrophies of Childhood/*genetics
Child, Preschool ; Chromosome Mapping ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Male ; Muscular Atrophy, Spinal/diagnosis ; Netherlands ; Respiratory Distress Syndrome, Newborn/diagnosis ; Spinal Muscular Atrophies of Childhood/diagnosis ; Transcription Factors/genetics
SCR Disease Name :
Spinal muscular atrophy with respiratory distress 1
Czasopismo naukowe
Tytuł :
Congenital myopathy with focal loss of cross-striations revisited.
Autorzy :
Voermans NC; Department of Neurology, Radboud University Nijmegen Medical Centre, The Netherlands. />Jungbluth H
Aronica E
Monnier N
Lunardi J
Swash M
de Visser M
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2013 Feb; Vol. 23 (2), pp. 160-4. Date of Electronic Publication: 2012 Nov 03.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Eye Diseases, Hereditary/*epidemiology
Eye Diseases, Hereditary/*pathology
Fibrosis/*epidemiology
Fibrosis/*pathology
Muscle, Skeletal/*pathology
Myotonia Congenita/*epidemiology
Myotonia Congenita/*pathology
Ocular Motility Disorders/*epidemiology
Ocular Motility Disorders/*pathology
Adult ; Biopsy ; Comorbidity ; Eye Diseases, Hereditary/genetics ; Female ; Fibrosis/genetics ; Follow-Up Studies ; Heterozygote ; Humans ; Male ; Mutation/genetics ; Myotonia Congenita/genetics ; Netherlands ; Ocular Motility Disorders/genetics ; Pedigree ; Ryanodine Receptor Calcium Release Channel/genetics
SCR Disease Name :
Fibrosis of Extraocular Muscles, Congenital, 3B
Czasopismo naukowe
Tytuł :
Oral dexamethasone pulse therapy versus daily prednisolone in sub-acute onset myositis, a randomised clinical trial.
Autorzy :
van de Vlekkert J; Department of Neurology, Academic Medical Center, University of Amsterdam, The Netherlands.
Hoogendijk JE
de Haan RJ
Algra A
van der Tweel I
van der Pol WL
Uijtendaal EV
de Visser M
Pokaż więcej
Corporate Authors :
Dexa Myositis Trial
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2010 Jun; Vol. 20 (6), pp. 382-9. Date of Electronic Publication: 2010 Apr 25.
Typ publikacji :
Comparative Study; Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms :
Anti-Inflammatory Agents/*therapeutic use
Dexamethasone/*therapeutic use
Myositis/*drug therapy
Prednisolone/*therapeutic use
Adult ; Anti-Inflammatory Agents/administration & dosage ; Anti-Inflammatory Agents/adverse effects ; Dexamethasone/administration & dosage ; Dexamethasone/adverse effects ; Double-Blind Method ; Female ; Humans ; Male ; Middle Aged ; Myositis, Inclusion Body/drug therapy ; Prednisolone/administration & dosage ; Prednisolone/adverse effects ; Risk Assessment ; Sample Size ; Treatment Outcome
Czasopismo naukowe
Tytuł :
What we do not know about pregnancy in hereditary neuromuscular disorders.
Autorzy :
Argov Z; Department of Neurology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel. />de Visser M
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2009 Oct; Vol. 19 (10), pp. 675-9. Date of Electronic Publication: 2009 Aug 18.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Neuromuscular Diseases/*physiopathology
Pregnancy Complications/*physiopathology
Female ; Humans ; Neuromuscular Diseases/epidemiology ; Pregnancy ; Pregnancy Complications/epidemiology ; Risk
Czasopismo naukowe
Tytuł :
Survival in SMA type I: a prospective analysis of 34 consecutive cases.
Autorzy :
Cobben JM; Department of Pediatrics, Emma Children Hospital, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands. j.m. />Lemmink HH
Snoeck I
Barth PA
van der Lee JH
de Visser M
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2008 Jul; Vol. 18 (7), pp. 541-4. Date of Electronic Publication: 2008 Jun 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Spinal Muscular Atrophies of Childhood/*epidemiology
Spinal Muscular Atrophies of Childhood/*mortality
Age of Onset ; Child, Preschool ; Confidence Intervals ; Cyclic AMP Response Element-Binding Protein/genetics ; Disease Progression ; Female ; Humans ; Infant ; Male ; Nerve Tissue Proteins/genetics ; Prospective Studies ; RNA-Binding Proteins/genetics ; Retrospective Studies ; SMN Complex Proteins ; Spinal Muscular Atrophies of Childhood/genetics ; Survival Analysis ; Survival of Motor Neuron 2 Protein
Czasopismo naukowe
Tytuł :
119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands.
Autorzy :
Hoogendijk JE; Department of Neurology, University Medical Center, Heidelberg laan 100, Utrecht, CX 3584, The Netherlands. />Amato AA
Lecky BR
Choy EH
Lundberg IE
Rose MR
Vencovsky J
de Visser M
Hughes RA
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2004 May; Vol. 14 (5), pp. 337-45.
Typ publikacji :
Congress; Research Support, Non-U.S. Gov't
MeSH Terms :
Research Design*
Clinical Trials as Topic/*methods
Myositis/*therapy
Myositis, Inclusion Body/*therapy
Adult ; Education ; Humans ; International Cooperation ; Myositis/diagnosis ; Myositis, Inclusion Body/diagnosis ; Netherlands ; Outcome and Process Assessment, Health Care
Raport
Tytuł :
Comparison of maximal voluntary isometric contraction and hand-held dynamometry in measuring muscle strength of patients with progressive lower motor neuron syndrome.
Autorzy :
Visser J; Department of Neurology (H2-222), Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE, Amsterdam, The Netherlands. j.visser@amc.uva.nl
Mans E
de Visser M
van den Berg-Vos RM
Franssen H
de Jong JM
van den Berg LH
Wokke JH
de Haan RJ
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2003 Nov; Vol. 13 (9), pp. 744-50.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Hand/*physiopathology
Hand Strength/*physiology
Isometric Contraction/*physiology
Motor Neuron Disease/*physiopathology
Muscle, Skeletal/*physiopathology
Adult ; Aged ; Diagnosis, Differential ; Electromyography/methods ; Female ; Humans ; Male ; Middle Aged ; Motor Neuron Disease/diagnosis ; Reproducibility of Results ; Sensitivity and Specificity
Czasopismo naukowe
Tytuł :
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Autorzy :
Bonne G; Inserm UR582, Institut de Myologie, Bâtiment Babinski, G.H. Pitié-Salpétrière, 75 651 Paris, Cedex 13, France. .
Yaou RB
Béroud C
Boriani G
Brown S
de Visser M
Duboc D
Ellis J
Hausmanowa-Petrusewicz I
Lattanzi G
Merlini L
Morris G
Muntoni F
Opolski G
Pinto YM
Sangiuolo F
Toniolo D
Trembath R
van Berlo JH
van der Kooi AJ
Wehnert M
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2003 Aug; Vol. 13 (6), pp. 508-15.
Typ publikacji :
Consensus Development Conference; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Muscular Dystrophy, Emery-Dreifuss*/complications
Muscular Dystrophy, Emery-Dreifuss*/genetics
Muscular Dystrophy, Emery-Dreifuss*/physiopathology
Cardiomyopathies/etiology ; Death, Sudden, Cardiac ; Humans
Czasopismo naukowe
Tytuł :
Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures.
Autorzy :
Helderman-van den Enden AT; Center for Human and Clinical Genetics, Leiden University Medical Center K5-R, PO Box 9600, 2300 RC Leiden, The Netherlands. />Ginjaar HB
Kneppers AL
Bakker E
Breuning MH
de Visser M
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2003 May; Vol. 13 (4), pp. 317-21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mosaicism*
Point Mutation*
Contracture/*etiology
Dystrophin/*genetics
Muscle, Skeletal/*pathology
Muscular Dystrophies/*pathology
Adult ; Contracture/physiopathology ; Humans ; Immunohistochemistry ; Male ; Muscle, Skeletal/physiopathology ; Muscular Dystrophies/complications ; Muscular Dystrophies/genetics ; Muscular Dystrophies/physiopathology ; Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands.
Autorzy :
Pepe G; Department of Internal Medicine, University of Rome 'Tor Vergata', Via Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy. />Bertini E
Bonaldo P
Bushby K
Giusti B
de Visser M
Guicheney P
Lattanzi G
Merlini L
Muntoni F
Nishino I
Nonaka I
Yaou RB
Sabatelli P
Sewry C
Topaloglu H
van der Kooi A
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2002 Dec; Vol. 12 (10), pp. 984-93.
Typ publikacji :
Congress; Research Support, Non-U.S. Gov't
MeSH Terms :
Collagen Type VI/*genetics
Muscular Diseases/*genetics
Adolescent ; Adult ; Child ; Creatine Kinase/blood ; Diagnosis, Differential ; Education ; Humans ; Male ; Middle Aged ; Muscle, Skeletal/physiopathology ; Muscular Diseases/classification ; Muscular Diseases/diagnosis ; Muscular Diseases/enzymology ; Muscular Dystrophies/enzymology ; Muscular Dystrophies/genetics ; Mutation
Raport
Tytuł :
Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands.
Autorzy :
Pepe G; Department of Internal Medicine, University of Rome Tor Vergata, 135 Torre E sud, 2 degrees piano, stanza E202, 00133, Rome, Italy. />de Visser M
Bertini E
Bushby K
Vanegas OC
Chu ML
Lattanzi G
Merlini L
Muntoni F
Urtizberea A
Pokaż więcej
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2002 Mar; Vol. 12 (3), pp. 296-305.
Typ publikacji :
Congress; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms :
Collagen Type VI/*genetics
Muscular Diseases/*diagnosis
Muscular Diseases/*genetics
Animals ; Humans
Raport

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