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

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

وصف الملف: Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6bTest
https://hdl.handle.net/2078.1/185606Test

المؤلفون: Nicol C. Voermans, Thierry Kuntzer, Michel Delforge, Marie-Christiane Vekemans, Olivier Benveniste, Monique C. Minnema, Peter Van den Bergh, Véronique Leblond, Norma B. Romero, Jan Novy, Thomas Pabst, Françoise Bouhour, Henk M. Lokhorst, Bruno Eymard, Wouter Meersseman, Baziel G.M. van Engelen, Martin Lammens

المصدر: Neurology
Neurology, 83, 23, pp. 2133-9
Voermans, Nicol C; Benveniste, Olivier; Minnema, Monique C; Lokhorst, Henk; Lammens, Martin; Meersseman, Wouter; Delforge, Michel; Kuntzer, Thierry; Novy, Jan; Pabst, Thomas; Bouhour, Françoise; Romero, Norma; Leblond, Veronique; Bergh, Peter van den; Vekemans, Marie-Christiane; Engelen, Baziel G van; Eymard, Bruno (2014). Sporadic late-onset nemaline myopathy with MGUS: long-term follow-up after melphalan and SCT. Neurology, 83(23), pp. 2133-2139. Lippincott Williams & Wilkins 10.1212/WNL.0000000000001047 <http://dx.doi.org/10.1212/WNL.0000000000001047Test>
ResearcherID
Europe PubMed Central
Neurology, 83, 2133-9

مصطلحات موضوعية: Melphalan, Adult, Male, medicine.medical_specialty, Paraproteinemias, Late onset, 610 Medicine & health, Myopathies, Nemaline, Gastroenterology, Transplantation, Autologous, Autologous stem-cell transplantation, Nemaline myopathy, immune system diseases, Internal medicine, hemic and lymphatic diseases, Medicine, Humans, Age of Onset, Myopathy, Retrospective Studies, business.industry, Muscle weakness, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hematologic Response, 3. Good health, Surgery, Treatment Outcome, Female, Neurology (clinical), Human medicine, medicine.symptom, business, Case series, medicine.drug, Follow-Up Studies, Stem Cell Transplantation

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8519e93627827a67a1c17d2569a0441dTest
https://hdl.handle.net/10067/1221760151162165141Test

المؤلفون: Haluk Topaloglu, Els De Vriendt, Argirios Dinopoulos, Esra Battaloglu, Kim Van Hoorenbeeck, Berten Ceulemans, Vincent Timmerman, Patrick Van Bogaert, Jonathan Baets, A. Pou-Serradell, Michaela Auer-Grumbach, Albena Jordanova, Yesim Parman, Peter Van den Bergh, Ricardo E. Madrid, Andrzej Kochański, Magdalena Zimoń, Dagmara Kabzińska, K. Peeters, Laetitia Yperzeele, Geoffrey P. Miller, Gian Maria Fabrizi, Günther Bernert, Birdal Bilir, Peter De Jonghe, Ronen Spiegel, Fernand Pauly, Satu-Leena Sallinen, Tine Deconinck

المساهمون: Çocuk Sağlığı ve Hastalıkları, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Brain, 134 (Pt 9
Brain
Brain : a journal of neurology, Vol. 134, no. 9, p. 2664-2676 (2011)

مصطلحات موضوعية: Génétique clinique, genotype-phenotype correlations, DNA Mutational Analysis, Disease, Charcot–Marie–Tooth disease, Dejerine-Sottas neuropathy, medicine.disease_cause, Bioinformatics, Cohort Studies, 0302 clinical medicine, Charcot-Marie-Tooth Disease, SH3TC2, Gene duplication, Age of Onset, Child, Genetics, 0303 health sciences, Mutation, early onset hereditary neuropathies, congenital hypomyelinating neuropathy, Dejerine–Sottas neuropathy, genotype–phenotype correlations, Middle Aged, Hypotonia, Phenotype, Child, Preschool, Hereditary Sensory and Motor Neuropathy -- genetics -- pathology -- physiopathology, medicine.symptom, Adult, Adolescent, Charcot-Marie-Tooth disease, 03 medical and health sciences, Young Adult, Neurologie, medicine, Humans, 030304 developmental biology, Aged, Genetic heterogeneity, business.industry, Infant, Original Articles, medicine.disease, Peripheral neuropathy, Charcot-Marie-Tooth Disease -- genetics -- pathology -- physiopathology, Neurology (clinical), Human medicine, Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

وصف الملف: 2 full-text file(s): application/pdf; application/pdf; text/plain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38300dcc0daaeeed746ea51631b2759Test
http://hdl.handle.net/2013/ULB-DIPOT:oai:dipot.ulb.ac.be:2013/108357Test