المؤلفون: Lukacs Zoltan, Paulina Nieves Cobos, Stephan Wenninger, Tracey A. Willis, Michela Guglieri, Marc Roberts, Rosaline Quinlivan, David Hilton-Jones, Teresinha Evangelista, Stephan Zierz, Beate Schlotter-Weigel, Maggie C Walter, Peter Reilich, Thomas Klopstock, Marcus Deschauer, Volker Straub, Wolfgang Müller-Felber, Benedikt Schoser

المصدر: Нервно-мышечные болезни, Vol 6, Iss 3, Pp 24-27 (2019)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/168; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/4ec0d1645281460598905760d4b17f8a

المؤلفون: Carolin Hoyer, Angelika Alonso, Beate Schlotter-Weigel, Michael Platten, Marc Fatar

المصدر: Case Reports in Neurology, Vol 9, Iss 2, Pp 121-126 (2017)

مصطلحات موضوعية: HIV, 4-Aminopyridine, Cerebellar syndrome, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://www.karger.com/Article/FullText/475544; https://doaj.org/toc/1662-680X

URL الوصول: https://doaj.org/article/7c0fe1b9d5ae4651b126c93322e10605

المؤلفون: Ernst Walther, Andreas Hermann, Beat M. Frey, Carsten Buhmann, Stefan Evers, Franz Marxreiter, Krassen Nedeltchev, Federica Montagnese, Wolfgang Löscher, Peter Reilich, Hans H. Jung, Wolfgang von Kalckreuth, Beate Schlotter-Weigel, Armin Orth, Carsten Saft, Maja Patricia Mattle-Greminger, Adrian Danek, Beate Mayer, Manfred Hoenig, Zacharias Kohl, Kevin Peikert

المصدر: F: Clinical studies: case reports, observational studies and trials.

مصطلحات موضوعية: Phenocopy, business.industry, Disease, medicine.disease, Bioinformatics, Genotype-phenotype distinction, Chronic granulomatous disease, Neuroacanthocytosis, Cohort, medicine, McLeod syndrome, medicine.symptom, business, Myopathy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::10337d412f9b610a9e99557b4da24d49
https://doi.org/10.1136/jnnp-2021-ehdn.71

المؤلفون: Ulrike Schara, Jan S. Kirschke, Osama Balousha, Mona Grimmel, Katrin Rupprich, Olaf Riess, Matthias Vorgerd, Tim M. Strom, Mohammed Falna, Marc Sturm, Thomas Meitinger, Bader Alhaddad, Stephan Zierz, Tobias B. Haack, Marcus Deschauer, Beate Schlotter-Weigel, Berit Jordan, Ludger Schöls, Jakob Admard, Ilka Schneider, Martina Kreiß, Joachim Weis, Anastasia Gazou, Cornelia Kornblum, Torsten Kraya, Ghassan Balousha, Holger Hengel

المصدر: Brain 144(2), 574-583 (2021). doi:10.1093/brain/awaa418

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pathology, medicine.medical_specialty, VWA1 protein, human, Adolescent, Medizin, pathology [Neuromuscular Diseases], Perlecan, medicine.disease_cause, Whole Exome Sequencing, pathology [Muscle, Skeletal], 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, Collagen VI, genetics [Extracellular Matrix Proteins], genetics [Neuromuscular Diseases], Exome Sequencing, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Allele, Child, Exome sequencing, Loss function, VWA1, Mutation, Extracellular Matrix Proteins, biology, business.industry, Muscle weakness, Middle Aged, mutations, Pedigree, 030104 developmental biology, biology.protein, neuromyopathy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4cbf98596bb6fa8ac11810460b10028
https://www.ncbi.nlm.nih.gov/pubmed/33459760

المؤلفون: Wolfgang Löscher, Peter Bauer, Herbert Schreiber, Daniela Karall, Matthias Baumann, Jan Senderek, Birgit Krabichler, Beate Schlotter-Weigel, Dieter Glaeser, Rolf Stucka, Christine Fauth, Tim M. Strom

المصدر: Clinical Genetics. 95:182-186

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Mitochondrial Diseases, Adolescent, 030105 genetics & heredity, Mitochondrial Proteins, Polyneuropathies, Young Adult, 03 medical and health sciences, Internal medicine, Genetics, medicine, Humans, Juvenile, Genetic Predisposition to Disease, Age of Onset, Child, Inner mitochondrial membrane, MPV17, Genetics (clinical), business.industry, Liver Diseases, Membrane Proteins, Peripheral Nervous System Diseases, medicine.disease, Axons, Failure to Thrive, Peripheral, 030104 developmental biology, Axonal sensorimotor polyneuropathy, Endocrinology, Failure to thrive, Mitochondrial DNA depletion syndrome, Heredodegenerative Disorders, Nervous System, Female, Sensorimotor Cortex, medicine.symptom, business, Liver Failure, Homeostasis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca1f4ed548a408f1e6d182db73bc5b0f
https://doi.org/10.1111/cge.13462

المؤلفون: Beate Schlotter-Weigel, Jan Senderek

المصدر: Fortschritte der Neurologie · Psychiatrie. 86:566-574

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, Psychiatry and Mental health, 030104 developmental biology, 0302 clinical medicine, Neurology, Neurology (clinical), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2dc1317807050bed40684a704badcfa7
https://doi.org/10.1055/a-0655-7659

المؤلفون: Maggie C. Walter, Bader Alhaddad, Reka Kovacs-Nagy, Andreas Sebastian Schroeder, Matias Wagner, Beate Schlotter-Weigel, Benedikt Schoser, Moritz Tacke, Tobias B. Haack, A. Blaschek, Lucia Gerstl, Marius Kuhn, Katharina Vill, Dieter Gläser, C. Mueller, Wolfgang Müller-Felber, Ingo Borggraefe

المصدر: Journal of Neuromuscular Diseases. 4:315-325

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Candidate gene, Pathology, Genetic analysis, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Muscular Diseases, Germany, Internal medicine, Prevalence, medicine, Humans, Age of Onset, Exome sequencing, Retrospective Studies, Muscle biopsy, medicine.diagnostic_test, business.industry, medicine.disease, Congenital myopathy, 030104 developmental biology, Neurology, Cohort, Congenital muscular dystrophy, Neurology (clinical), business, Sequence Analysis, Algorithms, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23db9a573ee468d10b503a6b5dc9f307
https://doi.org/10.3233/jnd-170231

المؤلفون: Angelika Alonso, Carolin Hoyer, Marc Fatar, Beate Schlotter-Weigel, Michael Platten

المصدر: Case Reports in Neurology, Vol 9, Iss 2, Pp 121-126 (2017)
Case Reports in Neurology

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Pediatrics, Human immunodeficiency virus (HIV), Case Report, medicine.disease_cause, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, medicine, Dementia, 4-Aminopyridine, lcsh:Neurology. Diseases of the nervous system, Cerebellar syndrome, business.industry, HIV, Cerebellar dysfunction, medicine.disease, Granule cell, Antiretroviral therapy, 030104 developmental biology, medicine.anatomical_structure, Etiology, Cerebellar atrophy, Neurology (clinical), business, Neurocognitive, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61849177578644069b23261c2bc5ff43
http://www.karger.com/Article/FullText/475544

المؤلفون: Julia Wanschitz, Manuela Wiessner, Rebecca Schüle, Royston Ong, Jennefer N. Kohler, Katharina Kinslechner, Pavel Seeman, Katja Eggermann, Bruno Francou, Marina L. Kennerson, Sabine Rudnik-Schöneborn, Garth Nicholson, Lois Dankwa, Jochen Weishaupt, Wilson Marques, T Deconinck, Tanya Stojkovic, Lisa Abreu, Anja Schirmacher, Jan Senderek, Christian Beetz, Matthis Synofzik, Stephan Iglseder, Susanne Petri, Michaela Auer-Grumbach, Nigel G. Laing, Rita Horvath, Geir J. Braathen, Reinhard Windhager, Petra Lassuthova, Jonathan Baets, Albert Ludolph, Peter De Jonghe, David N. Herrmann, Ingo Kurth, Bianca Dräger, Gianina Ravenscroft, Adriana P. Rebelo, Beate Schlotter-Weigel, Tim M. Strom, Phillipa J. Lamont, Stefan Toegel, Daniela Weinmann, David A. Brenner, Andrzej Kochański, Dagmara Kabzińska, Joline Dalton, David Walk, Carina Fischer, Giulia Ricci, Helle Høyer, Ludger Schoels, Stephan Züchner, Peter Young, Löscher Wolfgang N, Johannes Wagner, Melina Ellis

المساهمون: Dankwa, Lois [0000-0002-0259-9550], Kurth, Ingo [0000-0002-5642-8378], Apollo - University of Cambridge Repository

المصدر: Neurology 95(24), e3163-e3179 (2020). doi:10.1212/WNL.0000000000011132

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Population, blood [Neprilysin], Disease, Genetic analysis, Whole Exome Sequencing, genetics [Neprilysin], 03 medical and health sciences, 0302 clinical medicine, blood [Hereditary Sensory and Motor Neuropathy], Charcot-Marie-Tooth Disease, blood [Charcot-Marie-Tooth Disease], Exome Sequencing, blood [Aging], Medicine, Humans, Genetic Predisposition to Disease, ddc:610, genetics [Genetic Predisposition to Disease], Allele, Age of Onset, education, Neprilysin, Exome sequencing, Aged, Genetics, education.field_of_study, business.industry, genetics [Hereditary Sensory and Motor Neuropathy], High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, 030104 developmental biology, Female, Neurology (clinical), genetics [Charcot-Marie-Tooth Disease], Age of onset, business, Hereditary Sensory and Motor Neuropathy, 030217 neurology & neurosurgery

وصف الملف: application/octet-stream; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd83f458ea8f8c3459dda9f6467c43b7
http://hdl.handle.net/11568/1066057

المؤلفون: J. Andoni Urtizberea, María L. Cuadrado, Isabelle Desguerre, Emmanuelle Lagrue, Michel Fardeau, Carsten G. Bönnemann, Ulrike Reuner, Haluk Topaloglu, Beate Schlotter-Weigel, Susana Quijano-Roy, Maja von der Hagen, Rocio N. Villar-Quiles, Sandra Donkervoort, Denys Chaigne, Nathalie Goemans, Michèle Mayer, Norma B. Romero, Ekkehard Wilichowski, Jaume Colomer, Brigitte Estournet, Corinne Metay, Ulrike Schara, M Stoetter, Pascale Richard, Edoardo Malfatti, Angela M. Kaindl, Ana Ferreiro, David Orlikowski, Anneke van der Kooi, Marianne de Visser, Luciano Merlini, E. Bertini, Jürg Lütschg, Bruno Eymard, Volker Straub, C. Castiglioni, Mustafa A. Salih, Victoria Gonzalez

المساهمون: Neurology, ANS - Neuroinfection & -inflammation

المصدر: Neurology, 95(11), e1512-e1527. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Medizin, Retrospective cohort study, Scoliosis, medicine.disease, 3. Good health, Ophthalmoparesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Respiratory failure, Internal medicine, Biopsy, Medicine, Neurology (clinical), Young adult, medicine.symptom, business, Myopathy, 030217 neurology & neurosurgery, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6630144f5805a5d3daa9c0a2ffd7dfb
https://www.ncbi.nlm.nih.gov/pubmed/32796131

المؤلفون: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro

المصدر: Neurology

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Muscle Proteins, Middle Aged, Article, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Selenoproteins, Follow-Up Studies, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071
https://pubmed.ncbi.nlm.nih.gov/32796131

المؤلفون: S Thiele, E Akova-Öztürk, E Greckl, S Fritzsch, Beate Schlotter-Weigel, L Reinecke, Thomas Prukop, Michael W. Sereda, Maggie C. Walter, B Dräger, Peter Young, N Garcia-Angarita, Robert Fledrich

المصدر: Nervenheilkunde.

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, 030217 neurology & neurosurgery, 030227 psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f3ac36072cf50861c9f83bd43efc9aae
https://doi.org/10.1055/s-0039-1685012

المؤلفون: E Akova-Öztürk, B Dräger, Beate Schlotter-Weigel, S Fritzsch, L Reinecke, S Thiele, Michael W. Sereda, Peter Young, E Greckl, Burkhard Gess, Thomas Prukop, N Garcia-Angarita, Maggie C. Walter, Maike F. Dohrn

المصدر: Nervenheilkunde.

مصطلحات موضوعية: 03 medical and health sciences, 0302 clinical medicine, 030217 neurology & neurosurgery, 030227 psychiatry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::edc952766b852e36cf2ddc170d535a94
https://doi.org/10.1055/s-0039-1685099

المؤلفون: Beate Schlotter-Weigel, Peter Young, C Sommer, B Dräger, Julia Stauber, B Hartmannsberger, K Doppler

المصدر: Nervenheilkunde.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::cea94da4da82f52525daf956b050f40a
https://doi.org/10.1055/s-0039-1685011

المؤلفون: Albert C. Ludolph, Peter M. Andersen, David L.H. Bennett, Wilfried Renner, Ilka Böhme, Michaela Auer-Grumbach, Andreas C. Themistocleous, Sabine Rudnik-Schöneborn, Daniela Weinmann, Steven S. Scherer, Reinhard Windhager, Thomas Wieland, Matthew B. Harms, William W. Motley, Stephan Züchner, Christian Beetz, Maria Schabhüttl, Jochen H. Weishaupt, Tim M. Strom, Feifei Tao, Dennis Klein, Regina Fink-Puches, Catharina Chiari, Stefan Toegel, Beate Schlotter-Weigel, Manuela Zitzelsberger, Rudolf Martini, Thomas Walther, Jan Senderek, Mary M. Reilly, Lisa Abreu, Michael Gonzalez

المصدر: Am. J. Hum. Genet. 99, 607-623 (2016)

مصطلحات موضوعية: Adult, 0301 basic medicine, Aging, Heterozygote, Candidate gene, DNA Mutational Analysis, Mutation, Missense, Penetrance, medicine.disease_cause, Article, Mice, Polyneuropathies, 03 medical and health sciences, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, Databases, Genetic, Genetics, medicine, Animals, Humans, Missense mutation, Genetics(clinical), Exome, Age of Onset, Neprilysin, Index case, Alleles, Genetics (clinical), Aged, Genes, Dominant, Skin, Aged, 80 and over, Mutation, Amyloid beta-Peptides, business.industry, Heterozygote advantage, Middle Aged, Axons, 030104 developmental biology, Adipose Tissue, Dementia, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9ad87a00803ab4bda0822598c9e6f82
https://doi.org/10.1016/j.ajhg.2016.07.008

المؤلفون: Sicong Ma, Jonas Koeppel, Tilo Schlimbach, Florian Grünschläger, Kerstin Mohr, Beate Schlotter-Weigel, Alaa Madi, Roger Sandhoff, Jingxia Wu, Pavel Seeman, Rubí M.-H. Velasco Cárdenas, Florian Weiss, Eric Mah, Yvonne Samstag, Guido H. Wabnitz, Nathalie Bonello-Palot, Michaela Auer-Grumbach, Agnes Hotz-Wagenblatt, Maren Baumeister, Wolfgang Löscher, Yanan Ming, Guoliang Cui, Markus Reindl, Britta Brügger, Nina Weisshaar, Vincent Timmerman, Michael Schmitt, Lisann Müller

المساهمون: German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), Department of Biomedical Sciences [Antwerp, Belgium] (Peripheral Neuropathy Research Group), University of Antwerp (UA), Institute Born-Bunge [Antwerp, Belgium], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Clinical Department of Neurology [Innsbruck, Austria], Innsbruck Medical University = Medizinische Universität Innsbruck (IMU), Vesicular Transport, Biochemistry Center Heidelberg (BZH), Innsbruck Medical University [Austria] (IMU)

المصدر: Immunity
Immunity, 2019, 50 (5), pp.1218+. ⟨10.1016/j.immuni.2019.03.005⟩
Immunity, Elsevier, 2019, 50 (5), pp.1218+. ⟨10.1016/j.immuni.2019.03.005⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.GEN]Life Sciences [q-bio]/Genetics, T cell, Immunology, Serine C-palmitoyltransferase, Inflammation, mTORC1, Biology, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Infectious Diseases, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine, Unfolded protein response, Immunology and Allergy, Cytotoxic T cell, Human medicine, medicine.symptom, CD8, Intracellular

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbd2fc39c9fc8a1bca4885758e3856a2

المؤلفون: Beate, Schlotter-Weigel, Jan, Senderek

المصدر: Fortschritte der Neurologie-Psychiatrie. 86(9)

مصطلحات موضوعية: Humans, Hereditary Sensory and Motor Neuropathy, Algorithms

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::2c3d6b7eb99bd5125dff028a64b3bfda
https://pubmed.ncbi.nlm.nih.gov/30248689

المؤلفون: Beate Schlotter-Weigel, Jana Neupauerová, J.M. Schröder, Petra Laššuthová, P. Seeman, S. Erdem-Ozdamar, J. Senderek, H. Topaloglu, W. Müller-Felber, B. Bansagi, Dieter Gläser, David Staněk, Rita Horvath, R. Mazanec, L. Sedláčková, K. Vill, J. Weis

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, business, Spectrum (topology), Dermatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a71bfd84d797b30f3321bd3d5a247da8
https://doi.org/10.1111/cge.13417/v2/response1

المؤلفون: Jingxia, Wu, Sicong, Ma, Roger, Sandhoff, Yanan, Ming, Agnes, Hotz-Wagenblatt, Vincent, Timmerman, Nathalie, Bonello-Palot, Beate, Schlotter-Weigel, Michaela, Auer-Grumbach, Pavel, Seeman, Wolfgang N, Löscher, Markus, Reindl, Florian, Weiss, Eric, Mah, Nina, Weisshaar, Alaa, Madi, Kerstin, Mohr, Tilo, Schlimbach, Rubí M-H, Velasco Cárdenas, Jonas, Koeppel, Florian, Grünschläger, Lisann, Müller, Maren, Baumeister, Britta, Brügger, Michael, Schmitt, Guido, Wabnitz, Yvonne, Samstag, Guoliang, Cui

المصدر: Immunity

مصطلحات موضوعية: Male, Sphingolipids, Serine C-Palmitoyltransferase, CD8-Positive T-Lymphocytes, Lymphocytic Choriomeningitis, Mechanistic Target of Rapamycin Complex 1, Middle Aged, Endoplasmic Reticulum Stress, Article, Mice, Inbred C57BL, Mice, Animals, Cytokines, Humans, Lymphocytic choriomeningitis virus, Female, Hereditary Sensory and Autonomic Neuropathies, Cells, Cultured, Cell Proliferation, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0afa2a6c04c58c938e75bb340690d643
https://pubmed.ncbi.nlm.nih.gov/30952607

المؤلفون: Tim Beissbarth, Pavel Seeman, José Berciano, Radim Mazanec, Jana Haberlová, Jean-Yves Hogrel, Ana L. Pelayo-Negro, Rita Horvath, Robert Fledrich, Michael E. Shy, Peter Young, Walter Paulus, Davide Pareyson, Beate Schlotter-Weigel, Alessandra Solari, Dirk Czesnik, Thomas Prukop, Michael W. Sereda, Angelo Schenone, Maggie C. Walter, Tuuli J. Schnizer, Cmt Triaal, Manoj Mannil, Peter De Jonghe, Odile Dubourg, Natalia Garcia-Angarita, Andreas Leha, Caroline Ehbrecht, Jonathan Baets

المساهمون: CMT-TRIAAL

المصدر: Journal of Neurology, Neurosurgery & Psychiatry
J Neurol Neurosurg Psychiatry
Journal of neurology, neurosurgery and psychiatry

مصطلحات موضوعية: Male, 0301 basic medicine, Oncology, Pathology, Transcription, Genetic, Biopsy, Messenger, Cathepsin A, Disease, 0302 clinical medicine, Charcot-Marie-Tooth Disease, biomarker, Charcot Marie Tooth disease 1A, disease progression, disease severity, skin biopsy, Adult, Aged, Female, Genetic Markers, Glutathione Transferase, Glycoproteins, Humans, Middle Aged, Neuregulin-1, PPAR gamma, Phosphoric Diester Hydrolases, Prognosis, Pyrophosphatases, RNA, Messenger, Real-Time Polymerase Chain Reaction, Skin, Disease Progression, Treatment Outcome, Surgery, Neurology (clinical), Psychiatry and Mental Health, Medicine, medicine.diagnostic_test, Nuclear Proteins, 3. Good health, Psychiatry and Mental health, Cohort, Biomarker (medicine), Transcription, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Disease cluster, Article, 03 medical and health sciences, Genetic, Internal medicine, business.industry, Therapeutic effect, Clinical trial, 030104 developmental biology, Skin biopsy, RNA, Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ca65d919782eca4816236e202ca7314
https://hdl.handle.net/11858/00-001M-0000-002E-080F-911858/00-001M-0000-002E-080D-D21.11116/0000-000D-3088-3