Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

التفاصيل البيبلوغرافية
العنوان: Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases
المؤلفون: Antje Bornemann, Lukas J. Schnitzler, Christian Hartmann, Peter De Jonghe, Jens Reimann, Peter Van den Bergh, Andreas Meisel, Jörg B. Schulz, Jens A. Petersen, Aleksandra Nadaj-Pakleza, Joachim Weis, Philip Van Damme, Kristl G. Claeys, Andreas Ferbert, Elisabeth J. Rushing, Tobias Schreckenbach, Thomas Tousseyn, Jean-Jacques Martin, Werner Stenzel, Dietmar Rudolf Thal, Susanne Petri
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, University of Zurich, Claeys, Kristl G
المصدر: Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseases
بيانات النشر: BioMed Central Ltd., 2017.
سنة النشر: 2017
مصطلحات موضوعية: HIV-NM, 2716 Genetics (clinical), Weakness, Paraproteinemia, Pathology, medicine.medical_specialty, HIV-associated nemaline myopathy, lcsh:Medicine, 610 Medicine & health, Late onset, Review, Muscle disorder, Myopathies, Nemaline, SLONM, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Atrophy, medicine, 2736 Pharmacology (medical), Animals, Humans, Pharmacology (medical), ddc:610, Age of Onset, Myopathy, Genetics (clinical), Immunosuppression Therapy, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscles, lcsh:R, Monoclonal gammopathy, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, 10040 Clinic for Neurology, 030220 oncology & carcinogenesis, NGS, Immunology, MGUS, Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Stem Cell Transplantation
الوصف: Orphanet journal of rare diseases : OJRD 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Published by BioMed Central, London
وصف الملف: Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf
اللغة: English
تدمد: 1750-1172
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6bTest
https://hdl.handle.net/2078.1/185606Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....db244b832f5e53bcd295a37183776f6b
قاعدة البيانات: OpenAIRE
ResultId 1
Header edsair
OpenAIRE
edsair.doi.dedup.....db244b832f5e53bcd295a37183776f6b
808
3

unknown
807.555480957031
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&scope=site&db=edsair&AN=edsair.doi.dedup.....db244b832f5e53bcd295a37183776f6b&custid=s6537998&authtype=sso
FullText Array ( [Availability] => 0 )
Items Array ( [Name] => Title [Label] => Title [Group] => Ti [Data] => Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases )
Array ( [Name] => Author [Label] => Authors [Group] => Au [Data] => <searchLink fieldCode="AR" term="%22Antje+Bornemann%22">Antje Bornemann</searchLink><br /><searchLink fieldCode="AR" term="%22Lukas+J%2E+Schnitzler%22">Lukas J. Schnitzler</searchLink><br /><searchLink fieldCode="AR" term="%22Christian+Hartmann%22">Christian Hartmann</searchLink><br /><searchLink fieldCode="AR" term="%22Peter+De+Jonghe%22">Peter De Jonghe</searchLink><br /><searchLink fieldCode="AR" term="%22Jens+Reimann%22">Jens Reimann</searchLink><br /><searchLink fieldCode="AR" term="%22Peter+Van+den+Bergh%22">Peter Van den Bergh</searchLink><br /><searchLink fieldCode="AR" term="%22Andreas+Meisel%22">Andreas Meisel</searchLink><br /><searchLink fieldCode="AR" term="%22Jörg+B%2E+Schulz%22">Jörg B. Schulz</searchLink><br /><searchLink fieldCode="AR" term="%22Jens+A%2E+Petersen%22">Jens A. Petersen</searchLink><br /><searchLink fieldCode="AR" term="%22Aleksandra+Nadaj-Pakleza%22">Aleksandra Nadaj-Pakleza</searchLink><br /><searchLink fieldCode="AR" term="%22Joachim+Weis%22">Joachim Weis</searchLink><br /><searchLink fieldCode="AR" term="%22Philip+Van+Damme%22">Philip Van Damme</searchLink><br /><searchLink fieldCode="AR" term="%22Kristl+G%2E+Claeys%22">Kristl G. Claeys</searchLink><br /><searchLink fieldCode="AR" term="%22Andreas+Ferbert%22">Andreas Ferbert</searchLink><br /><searchLink fieldCode="AR" term="%22Elisabeth+J%2E+Rushing%22">Elisabeth J. Rushing</searchLink><br /><searchLink fieldCode="AR" term="%22Tobias+Schreckenbach%22">Tobias Schreckenbach</searchLink><br /><searchLink fieldCode="AR" term="%22Thomas+Tousseyn%22">Thomas Tousseyn</searchLink><br /><searchLink fieldCode="AR" term="%22Jean-Jacques+Martin%22">Jean-Jacques Martin</searchLink><br /><searchLink fieldCode="AR" term="%22Werner+Stenzel%22">Werner Stenzel</searchLink><br /><searchLink fieldCode="AR" term="%22Dietmar+Rudolf+Thal%22">Dietmar Rudolf Thal</searchLink><br /><searchLink fieldCode="AR" term="%22Susanne+Petri%22">Susanne Petri</searchLink> )
Array ( [Name] => Author [Label] => Contributors [Group] => Au [Data] => UCL - SSS/IONS/NEUR - Clinical Neuroscience<br />UCL - (SLuc) Service de neurologie<br />University of Zurich<br />Claeys, Kristl G )
Array ( [Name] => TitleSource [Label] => Source [Group] => Src [Data] => Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)<br />Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)<br />Orphanet Journal of Rare Diseases<br />Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2<br />Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)<br />Orphanet journal of rare diseases )
Array ( [Name] => Publisher [Label] => Publisher Information [Group] => PubInfo [Data] => BioMed Central Ltd., 2017. )
Array ( [Name] => DatePubCY [Label] => Publication Year [Group] => Date [Data] => 2017 )
Array ( [Name] => Subject [Label] => Subject Terms [Group] => Su [Data] => <searchLink fieldCode="DE" term="%22HIV-NM%22">HIV-NM</searchLink><br /><searchLink fieldCode="DE" term="%222716+Genetics+%28clinical%29%22">2716 Genetics (clinical)</searchLink><br /><searchLink fieldCode="DE" term="%22Weakness%22">Weakness</searchLink><br /><searchLink fieldCode="DE" term="%22Paraproteinemia%22">Paraproteinemia</searchLink><br /><searchLink fieldCode="DE" term="%22Pathology%22">Pathology</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Emedical%5Fspecialty%22">medicine.medical_specialty</searchLink><br /><searchLink fieldCode="DE" term="%22HIV-associated+nemaline+myopathy%22">HIV-associated nemaline myopathy</searchLink><br /><searchLink fieldCode="DE" term="%22lcsh%3AMedicine%22">lcsh:Medicine</searchLink><br /><searchLink fieldCode="DE" term="%22610+Medicine+%26+health%22">610 Medicine & health</searchLink><br /><searchLink fieldCode="DE" term="%22Late+onset%22">Late onset</searchLink><br /><searchLink fieldCode="DE" term="%22Review%22">Review</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+disorder%22">Muscle disorder</searchLink><br /><searchLink fieldCode="DE" term="%22Myopathies%2C+Nemaline%22">Myopathies, Nemaline</searchLink><br /><searchLink fieldCode="DE" term="%22SLONM%22">SLONM</searchLink><br /><searchLink fieldCode="DE" term="%2203+medical+and+health+sciences%22">03 medical and health sciences</searchLink><br /><searchLink fieldCode="DE" term="%220302+clinical+medicine%22">0302 clinical medicine</searchLink><br /><searchLink fieldCode="DE" term="%22Nemaline+myopathy%22">Nemaline myopathy</searchLink><br /><searchLink fieldCode="DE" term="%22Atrophy%22">Atrophy</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%22">medicine</searchLink><br /><searchLink fieldCode="DE" term="%222736+Pharmacology+%28medical%29%22">2736 Pharmacology (medical)</searchLink><br /><searchLink fieldCode="DE" term="%22Animals%22">Animals</searchLink><br /><searchLink fieldCode="DE" term="%22Humans%22">Humans</searchLink><br /><searchLink fieldCode="DE" term="%22Pharmacology+%28medical%29%22">Pharmacology (medical)</searchLink><br /><searchLink fieldCode="DE" term="%22ddc%3A610%22">ddc:610</searchLink><br /><searchLink fieldCode="DE" term="%22Age+of+Onset%22">Age of Onset</searchLink><br /><searchLink fieldCode="DE" term="%22Myopathy%22">Myopathy</searchLink><br /><searchLink fieldCode="DE" term="%22Genetics+%28clinical%29%22">Genetics (clinical)</searchLink><br /><searchLink fieldCode="DE" term="%22Immunosuppression+Therapy%22">Immunosuppression Therapy</searchLink><br /><searchLink fieldCode="DE" term="%22Muscle+biopsy%22">Muscle biopsy</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Ediagnostic%5Ftest%22">medicine.diagnostic_test</searchLink><br /><searchLink fieldCode="DE" term="%22business%2Eindustry%22">business.industry</searchLink><br /><searchLink fieldCode="DE" term="%22Muscles%22">Muscles</searchLink><br /><searchLink fieldCode="DE" term="%22lcsh%3AR%22">lcsh:R</searchLink><br /><searchLink fieldCode="DE" term="%22Monoclonal+gammopathy%22">Monoclonal gammopathy</searchLink><br /><searchLink fieldCode="DE" term="%22High-Throughput+Nucleotide+Sequencing%22">High-Throughput Nucleotide Sequencing</searchLink><br /><searchLink fieldCode="DE" term="%22General+Medicine%22">General Medicine</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Edisease%22">medicine.disease</searchLink><br /><searchLink fieldCode="DE" term="%2210040+Clinic+for+Neurology%22">10040 Clinic for Neurology</searchLink><br /><searchLink fieldCode="DE" term="%22030220+oncology+%26+carcinogenesis%22">030220 oncology & carcinogenesis</searchLink><br /><searchLink fieldCode="DE" term="%22NGS%22">NGS</searchLink><br /><searchLink fieldCode="DE" term="%22Immunology%22">Immunology</searchLink><br /><searchLink fieldCode="DE" term="%22MGUS%22">MGUS</searchLink><br /><searchLink fieldCode="DE" term="%22Human+medicine%22">Human medicine</searchLink><br /><searchLink fieldCode="DE" term="%22medicine%2Esymptom%22">medicine.symptom</searchLink><br /><searchLink fieldCode="DE" term="%22business%22">business</searchLink><br /><searchLink fieldCode="DE" term="%22030217+neurology+%26+neurosurgery%22">030217 neurology & neurosurgery</searchLink><br /><searchLink fieldCode="DE" term="%22Stem+Cell+Transplantation%22">Stem Cell Transplantation</searchLink> )
Array ( [Name] => Abstract [Label] => Description [Group] => Ab [Data] => Orphanet journal of rare diseases : OJRD 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2<br />Published by BioMed Central, London )
Array ( [Name] => Format [Label] => File Description [Group] => SrcInfo [Data] => Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf )
Array ( [Name] => Language [Label] => Language [Group] => Lang [Data] => English )
Array ( [Name] => ISSN [Label] => ISSN [Group] => ISSN [Data] => 1750-1172 )
Array ( [Name] => URL [Label] => Access URL [Group] => URL [Data] => <link linkTarget="URL" linkTerm="https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6b" linkWindow="_blank">https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6b</link><br /><link linkTarget="URL" linkTerm="https://hdl.handle.net/2078.1/185606" linkWindow="_blank">https://hdl.handle.net/2078.1/185606</link> )
Array ( [Name] => Copyright [Label] => Rights [Group] => Cpyrght [Data] => OPEN )
Array ( [Name] => AN [Label] => Accession Number [Group] => ID [Data] => edsair.doi.dedup.....db244b832f5e53bcd295a37183776f6b )
RecordInfo Array ( [BibEntity] => Array ( [Languages] => Array ( [0] => Array ( [Text] => English ) ) [Subjects] => Array ( [0] => Array ( [SubjectFull] => HIV-NM [Type] => general ) [1] => Array ( [SubjectFull] => 2716 Genetics (clinical) [Type] => general ) [2] => Array ( [SubjectFull] => Weakness [Type] => general ) [3] => Array ( [SubjectFull] => Paraproteinemia [Type] => general ) [4] => Array ( [SubjectFull] => Pathology [Type] => general ) [5] => Array ( [SubjectFull] => medicine.medical_specialty [Type] => general ) [6] => Array ( [SubjectFull] => HIV-associated nemaline myopathy [Type] => general ) [7] => Array ( [SubjectFull] => lcsh:Medicine [Type] => general ) [8] => Array ( [SubjectFull] => 610 Medicine & health [Type] => general ) [9] => Array ( [SubjectFull] => Late onset [Type] => general ) [10] => Array ( [SubjectFull] => Review [Type] => general ) [11] => Array ( [SubjectFull] => Muscle disorder [Type] => general ) [12] => Array ( [SubjectFull] => Myopathies, Nemaline [Type] => general ) [13] => Array ( [SubjectFull] => SLONM [Type] => general ) [14] => Array ( [SubjectFull] => 03 medical and health sciences [Type] => general ) [15] => Array ( [SubjectFull] => 0302 clinical medicine [Type] => general ) [16] => Array ( [SubjectFull] => Nemaline myopathy [Type] => general ) [17] => Array ( [SubjectFull] => Atrophy [Type] => general ) [18] => Array ( [SubjectFull] => medicine [Type] => general ) [19] => Array ( [SubjectFull] => 2736 Pharmacology (medical) [Type] => general ) [20] => Array ( [SubjectFull] => Animals [Type] => general ) [21] => Array ( [SubjectFull] => Humans [Type] => general ) [22] => Array ( [SubjectFull] => Pharmacology (medical) [Type] => general ) [23] => Array ( [SubjectFull] => ddc:610 [Type] => general ) [24] => Array ( [SubjectFull] => Age of Onset [Type] => general ) [25] => Array ( [SubjectFull] => Myopathy [Type] => general ) [26] => Array ( [SubjectFull] => Genetics (clinical) [Type] => general ) [27] => Array ( [SubjectFull] => Immunosuppression Therapy [Type] => general ) [28] => Array ( [SubjectFull] => Muscle biopsy [Type] => general ) [29] => Array ( [SubjectFull] => medicine.diagnostic_test [Type] => general ) [30] => Array ( [SubjectFull] => business.industry [Type] => general ) [31] => Array ( [SubjectFull] => Muscles [Type] => general ) [32] => Array ( [SubjectFull] => lcsh:R [Type] => general ) [33] => Array ( [SubjectFull] => Monoclonal gammopathy [Type] => general ) [34] => Array ( [SubjectFull] => High-Throughput Nucleotide Sequencing [Type] => general ) [35] => Array ( [SubjectFull] => General Medicine [Type] => general ) [36] => Array ( [SubjectFull] => medicine.disease [Type] => general ) [37] => Array ( [SubjectFull] => 10040 Clinic for Neurology [Type] => general ) [38] => Array ( [SubjectFull] => 030220 oncology & carcinogenesis [Type] => general ) [39] => Array ( [SubjectFull] => NGS [Type] => general ) [40] => Array ( [SubjectFull] => Immunology [Type] => general ) [41] => Array ( [SubjectFull] => MGUS [Type] => general ) [42] => Array ( [SubjectFull] => Human medicine [Type] => general ) [43] => Array ( [SubjectFull] => medicine.symptom [Type] => general ) [44] => Array ( [SubjectFull] => business [Type] => general ) [45] => Array ( [SubjectFull] => 030217 neurology & neurosurgery [Type] => general ) [46] => Array ( [SubjectFull] => Stem Cell Transplantation [Type] => general ) ) [Titles] => Array ( [0] => Array ( [TitleFull] => Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases [Type] => main ) ) ) [BibRelationships] => Array ( [HasContributorRelationships] => Array ( [0] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Antje Bornemann ) ) ) [1] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Lukas J. Schnitzler ) ) ) [2] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Christian Hartmann ) ) ) [3] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Peter De Jonghe ) ) ) [4] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Jens Reimann ) ) ) [5] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Peter Van den Bergh ) ) ) [6] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Andreas Meisel ) ) ) [7] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Jörg B. Schulz ) ) ) [8] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Jens A. Petersen ) ) ) [9] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Aleksandra Nadaj-Pakleza ) ) ) [10] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Joachim Weis ) ) ) [11] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Philip Van Damme ) ) ) [12] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Kristl G. Claeys ) ) ) [13] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Andreas Ferbert ) ) ) [14] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Elisabeth J. Rushing ) ) ) [15] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Tobias Schreckenbach ) ) ) [16] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Thomas Tousseyn ) ) ) [17] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Jean-Jacques Martin ) ) ) [18] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Werner Stenzel ) ) ) [19] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Dietmar Rudolf Thal ) ) ) [20] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Susanne Petri ) ) ) [21] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => UCL - SSS/IONS/NEUR - Clinical Neuroscience ) ) ) [22] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => UCL - (SLuc) Service de neurologie ) ) ) [23] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => University of Zurich ) ) ) [24] => Array ( [PersonEntity] => Array ( [Name] => Array ( [NameFull] => Claeys, Kristl G ) ) ) ) [IsPartOfRelationships] => Array ( [0] => Array ( [BibEntity] => Array ( [Dates] => Array ( [0] => Array ( [D] => 01 [M] => 01 [Type] => published [Y] => 2017 ) ) [Identifiers] => Array ( [0] => Array ( [Type] => issn-print [Value] => 17501172 ) [1] => Array ( [Type] => issn-locals [Value] => edsair ) [2] => Array ( [Type] => issn-locals [Value] => edsairFT ) ) ) ) ) ) )
IllustrationInfo