المؤلفون: Manon Hustinx, Ann-Marie Shorrocks, Laurent Servais

المصدر: Pharmaceutics; Volume 15; Issue 6; Pages: 1626

مصطلحات موضوعية: inherited neuropathies, treatment, disease-modifying therapy

وصف الملف: application/pdf

العلاقة: Drug Delivery and Controlled Release; https://dx.doi.org/10.3390/pharmaceutics15061626Test

الإتاحة: https://doi.org/10.3390/pharmaceutics15061626Test

المؤلفون: Visigalli, Davide, Capodivento, Giovanna, Basit, Abdul, Fernandez, Roberto, Hamid, Zeeshan, Pencova, Barbora, Gemelli, Chiara, Marubbi, Daniela, Pastorino, Cecilia, Luoma, Adrienne M., Riekel, Christian, Kirschner, Daniel A., Schenone, Angelo, Fernandez, Jose A., Armirotti, Andrea, Nobbio, Lucilla

المساهمون: Dipartimento di Neuroscienze, riabilitazione, oftalmologia, genetica e scienze materno-infantili Genova (DINOGMI), Università degli studi di Genova = University of Genoa (UniGe), Fondazione Istituto Italiano di Tecnologia, Genova, University of the Basque Country/Euskal Herriko Unibertsitatea (UPV/EHU), Boston College (BC), European Synchrotron Radiation Facility Grenoble (ESRF)

المصدر: ISSN: 1664-2295 ; Frontiers in Neurology ; https://hal.science/hal-03725799Test ; Frontiers in Neurology, 2020, 11, pp.903-1-903-14. ⟨10.3389/fneur.2020.00903⟩.

مصطلحات موضوعية: MARIE-TOOTH-DISEASE, SCHWANN-CELL DIFFERENTIATION, MYELIN SHEATH THICKNESS, ROOT GANGLIA CULTURES, RAT MODEL, PHOSPHATIDYLINOSITOL 3, 5-TRISPHOSPHATE, SERINE PALMITOYLTRANSFERASE, INHERITED NEUROPATHIES, PERIPHERAL NEUROPATHY, CONDUCTION-VELOCITY, [SDV]Life Sciences [q-bio]

الوقت: 4

العلاقة: hal-03725799; https://hal.science/hal-03725799Test; https://hal.science/hal-03725799/documentTest; https://hal.science/hal-03725799/file/Front_Neurology_11_903.pdfTest; WOS: 000570615400001

الإتاحة: https://doi.org/10.3389/fneur.2020.00903Test
https://hal.science/hal-03725799Test
https://hal.science/hal-03725799/documentTest
https://hal.science/hal-03725799/file/Front_Neurology_11_903.pdfTest

المؤلفون: Carenini, Stefano, Mäurer, Mathias, Werner, Alexander, Blazyca, Heinrich, Toyka, Klaus V., Schmid, Christoph D., Raivich, Gennadij, Martini, Rudolf

المصدر: The Journal of Cell Biology, 2001 Jan . 152(2), 301-308.

الوصول الحر: https://www.jstor.org/stable/1620330Test

المؤلفون: Frezatti, Rodrigo, Tomaselli, Pedro, Reilly, Mary, Record, Christopher, Figueiredo, Fernanda, Marques, Wilson

المساهمون: Universidade Estadual Paulista (UNESP)

مصطلحات موضوعية: Neurogenetics, Inherited neuropathies

وصف الملف: S49-S50

العلاقة: Journal Of The Peripheral Nervous System; Journal Of The Peripheral Nervous System. Hoboken: Wiley, v. 27, p. S49-S50, 2022.; http://hdl.handle.net/11449/237619Test; WOS:000822950200095

الإتاحة: http://hdl.handle.net/11449/237619Test

المؤلفون: Prior, Robert, Silva , Alessio, VANGANSEWINKEL, Tim, Tharkeshwar, Arun, Michailidou, Iliana, Vreijling, Jeroen, Loos, Maarten, Koopmans, Bastijn, Vlek, Nina, Straat, Nina, Agaser, Cedrick, Kuipers , Tom, Rossaert, Elisabeth, Verschoren, Stijn, Vermeire, Wendy, Michiels, Christine, De Laat, Vincent, Dehairs, Jonas, Eggermont, Kristel, Van Den Biggelaar, Diede, Verfaillie, Catherine, Van Damme , Philip, Mei, Hailiang (Leon), Swinnen , Johan, WOLFS, Esther, Baas, Frank, Fluiter, Kees, Van Den Bosch , Ludo

المساهمون: Prior, Robert, Silva , Alessio, VANGANSEWINKEL, Tim, Tharkeshwar, Arun, Michailidou, Iliana, Vreijling, Jeroen, Loos, Maarten, Koopmans, Bastijn, Vlek, Nina, Straat, Nina, Agaser, Cedrick, Kuipers , Tom, Rossaert, Elisabeth, Verschoren, Stijn, Vermeire, Wendy, Michiels, Christine, De Laat, Vincent, Dehairs, Jonas, Eggermont, Kristel, Van Den Biggelaar, Diede, Verfaillie, Catherine, Van Damme , Philip, Mei, Hailiang (Leon), Swinnen , Johan, WOLFS, Esther, Baas, Frank, Fluiter, Kees, Van Den Bosch , Ludo

مصطلحات موضوعية: CMT1A, inherited neuropathies, lipid metabolism, PMP22, Schwann cells

وصف الملف: application/pdf

العلاقة: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 27 , p. S108; http://hdl.handle.net/1942/37956Test; S108; 27; 000822950200221

الإتاحة: http://hdl.handle.net/1942/37956Test

المؤلفون: C. Cambieri, Marco Ceccanti, Giovanni Antonini, Luca Leonardi, Maurizio Inghilleri, Emanuela Onesti, Matteo Garibaldi, Laura Fionda, Antonella Di Pasquale, Fiammetta Vanoli

المصدر: Muscle & Nerve. 59:587-590

مصطلحات موضوعية: Male, 0301 basic medicine, Pathology, medicine.medical_specialty, Physiology, Neural Conduction, neurophysiological-morphological correlations, 030105 genetics & heredity, Inherited neuropathies, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Muscle nerve, Tangier disease, nerve high resolution ultrasonography, Physiology (medical), medicine, Humans, Brachial Plexus, Peripheral Nerves, nerve imaging, inherited neuropathies, clinical-morphological correlations, Tangier Disease, Ulnar Nerve, Aged, Ultrasonography, biology, business.industry, Siblings, Peroneal Nerve, Middle Aged, medicine.disease, Median Nerve, Peripheral, Spinal Nerves, ABCA1, biology.protein, Female, High resolution ultrasonography, Neurology (clinical), Abnormality, business, 030217 neurology & neurosurgery, ATP Binding Cassette Transporter 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50a1bf9ef21ec3af7306ad359ab8596eTest
https://doi.org/10.1002/mus.26427Test

المؤلفون: Alex S. McKeown, Brian C Samuels, Alexander Meadway, Lawrence C. Sincich

المصدر: Ophthalmic Res

مصطلحات موضوعية: Adult, Male, Optics and Photonics, Materials science, genetic structures, Optic-nerve degeneration, Article, Inherited neuropathies, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Imaging, Three-Dimensional, Nuclear magnetic resonance, Retinal Diseases, Increment threshold, Optical coherence tomography, medicine, Humans, Life Cycle Stages, medicine.diagnostic_test, Cysts, Optical Imaging, Photoreceptor mosaic, Retinal, General Medicine, eye diseases, Sensory Systems, Ophthalmoscopy, Optical modeling, Ophthalmology, medicine.anatomical_structure, chemistry, Lens (anatomy), Retinal Cone Photoreceptor Cells, sense organs, Tomography, Optical Coherence

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f249b5518eb8618e25aa38ed859b68eTest
https://doi.org/10.1159/000505785Test

المؤلفون: Karina Carvalho Donis, Pablo Brea Winckler, Alice Maria Luderitz Hoefel, Janice Pacheco Dias Padilha, Ana Carolina Brusius Facchin, Carolina Serpa Brasil, Jonas Alex Morales Saute

مصطلحات موضوعية: Inherited neuropathies, Yield (finance), Computational biology, Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::578528a32016e021bce545cc9c64dbc5Test
https://doi.org/10.1111/cge.13793/v2/response1Test

المؤلفون: Carolina Serpa Brasil, Alice Maria Luderitz Hoefel, Jonas Alex Morales Saute, Janice Pacheco Dias Padilha, Pablo Brea Winckler, Karina Carvalho Donis, Ana Carolina Brusius-Facchin

المصدر: Clinical geneticsREFERENCES. 98(2)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Disease, 030105 genetics & heredity, DNA sequencing, Connexins, Inherited neuropathies, 03 medical and health sciences, symbols.namesake, Charcot-Marie-Tooth Disease, Internal medicine, Epidemiology, Genetics, medicine, Possible diagnosis, Humans, Multiplex ligation-dependent probe amplification, Pathology, Molecular, Genetics (clinical), Sanger sequencing, business.industry, Sequence Analysis, DNA, nervous system diseases, 030104 developmental biology, Mutation, symbols, Female, business, Multiplex Polymerase Chain Reaction, Myelin P0 Protein, Brazil, Myelin Proteins

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c637ad0331dff3978b3e75e10d507d54Test
https://pubmed.ncbi.nlm.nih.gov/32506583Test

المؤلفون: Gwendal Le Masson, Laurent Magy, Jean-Michel Vallat, Meriem Tazir, Stéphane Mathis, Cyril Goizet

المصدر: Neurology. 90:e870-e876

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Genotype, International Cooperation, MEDLINE, Gene mutation, Inherited neuropathies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Surveys and Questionnaires, medicine, Humans, Aged, Aged, 80 and over, business.industry, International survey, Middle Aged, 030104 developmental biology, Family medicine, Female, The Internet, Neurology (clinical), business, Psychology, 030217 neurology & neurosurgery, Medical literature

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7da5eea218ccaf2baffce1e269eefecTest
https://doi.org/10.1212/wnl.0000000000005074Test