Výsledky vyhledávání - "HEREDITARY NEUROPATHIES"

Pediatric inherited peripheral neuropathy: a prospective study at a Spanish referral center

Autor: Vincenzo Lupo, Juan F. Vázquez-Costa, Carmen Espinós, Miguel Tomás-Vila, Teresa Sevilla, Inmaculada Pitarch, Herminia Argente-Escrig, Elvira Millet-Sancho, Marina Frasquet

Publikováno v: Annals of Clinical and Translational Neurology
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Annals of Clinical and Translational Neurology, Vol 8, Iss 9, Pp 1809-1816 (2021)

Background Single-center clinical series provide important information on genetic distribution that can guide genetic testing. However, there are few such studies on pediatric populations with inherited peripheral neuropathies (IPNs). Methods Thoroug

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04a679369bfc41ef9a7623dfdb02b9a1
https://doi.org/10.1002/acn3.51432

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Akademický článek

Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies

Autor: Mansour Haidar, Vincent Timmerman

Publikováno v: Frontiers in Molecular Neuroscience, Vol 10 (2017)

The inherited peripheral neuropathies (IPNs) comprise a growing list of genetically heterogeneous diseases. With mutations in more than 80 genes being reported to cause IPNs, a wide spectrum of functional consequences is expected to follow this genot

Externí odkaz: https://doaj.org/article/06592b5e8eb340e5a36e3479038bfe17

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Akademický článek

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Electrodiagnostic Testing of Large Fiber Polyneuropathies: A Review of Existing Guidelines

Autor: Kirsten Pugdahl, Anders Fuglsang-Frederiksen, Hatice Tankisi

Publikováno v: Tankisi, H, Pugdahl, K & Fuglsang-Frederiksen, A 2020, ' Electrodiagnostic Testing of Large Fiber Polyneuropathies : A Review of Existing Guidelines ', Journal of Clinical Neurophysiology, vol. 37, no. 4, pp. 277-287 . https://doi.org/10.1097/WNP.0000000000000674

Electrodiagnostic testing for polyneuropathies is a large part of the diagnostic workup in all electrodiagnostic laboratories. Guidelines on examination and diagnostic strategies and classification of polyneuropathies are crucial for standardization

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b6d2cf72efc34b696659df1b2a3e6a
https://doi.org/10.1097/wnp.0000000000000674

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Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Autor: Raheleh Vazehan, Kimia Kahrizi, Hossein Najmabadi, Farnaz Sadeghinia, Sara Taghizadeh, Shahriar Nafissi, Zohreh Fattahi, Maryam Beheshtian, Sanaz Arzhangi, Ariana Kariminejad, Marzieh Mohseni

Publikováno v: Archives of Iranian Medicine. 23:426-433

Background: Inherited peripheral neuropathies (IPNs) are a group of neuropathies affecting peripheral motor and sensory neurons. Charcot-Marie-Tooth (CMT) disease is the most common disease in this group. With recent advances in next-generation seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f5e055027b256a8da543e51ebb5fac8
https://doi.org/10.34172/aim.2020.39

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Nerve Ultrasound Protocol to Detect Dysimmune Neuropathies

Autor: Anna Lena Fisse, Ralf Gold, Kalliopi Pitarokoili

Publikováno v: Journal of Visualized Experiments.

Nerve ultrasound is increasingly used in the differential diagnosis of polyneuropathy as a complementary tool to nerve conduction studies. Morphological alterations of the peripheral nerves, such as increasing the cross-sectional area (CSA), have bee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::902d00a278f54565193b9dd5b9c7f416
https://doi.org/10.3791/62900

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Animal Models as a Tool to Design Therapeutical Strategies for CMT-like Hereditary Neuropathies

Autor: Yuri Matteo Falzone, Stefano Carlo Previtali, Luca Bosco

Publikováno v: Brain Sciences
Brain Sciences, Vol 11, Iss 1237, p 1237 (2021)

Since ancient times, animal models have provided fundamental information in medical knowledge. This also applies for discoveries in the field of inherited peripheral neuropathies (IPNs), where they have been instrumental for our understanding of nerv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053e66891c661b9d596ec9b3798a021f
http://europepmc.org/articles/PMC8465478

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Rodent models with expression of PMP22: Relevance to dysmyelinating CMT and HNPP

Autor: Laurence Richard, Jean-Michel Vallat, Anne-Sophie Lia, Stéphane Mathis, Laurent Magy, Maxime Jouaud

Publikováno v: Journal of the Neurological Sciences
Journal of the Neurological Sciences, Elsevier, 2019, 398, pp.79-90. ⟨10.1016/j.jns.2019.01.030⟩

International audience; Background: Charcot-Marie-Tooth diseases (CMT) are due to abnormalities of many genes, the most frequent being linked to PMP22 (Peripheral Myelin Protein 22). In the past, only spontaneous genetic anomalies occurring in mouse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ea7dc763a78d0f6593ed39d1abc5ff
https://doi.org/10.1016/j.jns.2019.01.030

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Differential Diagnosis of Acquired and Hereditary Neuropathies in Children and Adolescents - Consensus-Based Practice Guidelines

Autor: Nina Lochbuehler, Barbara Plecko, Markus Blankenburg, Joachim Weis, Benedikt Schoser, Wolfgang Müller-Felber, Georg M. Stettner, Rudolf Korinthenberg, Gabriele Hahn, Regina Trollmann, Sabine Rudnik-Schöneborn

Publikováno v: Children : open access pediatrics journal 8(8), 687 (2021). doi:10.3390/children8080687 special issue: "Special issue "Neuromuscular disorders in children and adolescents" / special issue editor: Rudolf Korinthenberg, guest editor"
Children
Children, Vol 8, Iss 687, p 687 (2021)

Children : open access pediatrics journal 8(8), 687 (2021). doi:10.3390/children8080687 special issue: "Special issue "Neuromuscular disorders in children and adolescents" / special issue editor: Rudolf Korinthenberg, guest editor"
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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3adc0e5c42b2f13b3169997a978f0537

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