A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

Por Kari, Elina, Llaci, Lorida, Go, John L., Naymik, Marcus, Knowles, James A., Leal, Suzanne M., Rangasamy, Sampath, Huentelman, Matthew J., Friedman, Rick A., Schrauwen, Isabelle
Publicado no Mol Genet Genomic Med (2019)

Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile

Por Bevilacqua, Jorge A., Lara, Marian, Díaz, Jorge, Campero, Mario, Vázquez, Jessica, Maselli, Ricardo A.
Publicado no Eur J Transl Myol (2017)

Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon binding domain of GARS

Por Eskuri, Jamie M., Stanley, Christine M., Moore, Steven A., Mathews, Katherine D.
Publicado em 2012

A Case of Lambert-Eaton Myasthenic Syndrome with Small-Cell Lung Cancer and Transient Increase in Anti-Acetylcholine-Receptor-Binding Antibody Titer

Por Lee, Jung Hwan, Shin, Ha Young, Kim, Seung Min, Sunwoo, Il Nam
Publicado em 2012

Immunohistochemical methods for semiquantitative analysis of collagen content in human peripheral nerve

Por LOWRY, A., WILCOX, D., MASSON, E. A., WILLIAMS, P. E.
Publicado em 1997

Cranial Nerve IX and X Weakness: An Unusual Initial Presentation of Myasthenia Gravis

Por Balabbigari, Nikhita, Purewal, Jaskaran, Sakul, NFN, Purewal, Anam, Kankanala, Vijaya, Califano, Tiziana
Publicado no Am J Case Rep (2020)

Central skull base osteomyelitis secondary to invasive aspergillus sphenoid sinusitis presenting with isolated 12th nerve palsy

Por Radhakrishnan, Suma, Mujeeb, Hiba, Radhakrishnan, Chandni
Publicado no IDCases (2020)

Selective retrograde transsynaptic transfer of a protein, tetanus toxin, subsequent to its retrograde axonal transport

Por Schwab, ME, Suda, K, Thoenen, H
Publicado em 1979

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Por Huzé, Caroline, Bauché, Stéphanie, Richard, Pascale, Chevessier, Frédéric, Goillot, Evelyne, Gaudon, Karen, Ben Ammar, Asma, Chaboud, Annie, Grosjean, Isabelle, Lecuyer, Heba-Aude, Bernard, Véronique, Rouche, Andrée, Alexandri, Nektaria, Kuntzer, Thierry, Fardeau, Michel, Fournier, Emmanuel, Brancaccio, Andrea, Rüegg, Markus A., Koenig, Jeanine, Eymard, Bruno, Schaeffer, Laurent, Hantaï, Daniel
Publicado em 2009

Mutation of sec63 in zebrafish causes defects in myelinated axons and liver pathology

Por Monk, Kelly R., Voas, Matthew G., Franzini-Armstrong, Clara, Hakkinen, Ian S., Talbot, William S.
Publicado em 2013

SAT-384 Identification of Heterozygous LRP5 Mutation and a TGFβ-1 Variant of Unknown Significance in a Patient with Hearing Loss, High Bone Mass, and Oropharyngeal Exostoses

Por Cheng, Cheng, Avery, James, Gottesman, Gary, Mumm, Steven, Whyte, Michael P
Publicado no J Endocr Soc (2020)

Current opinion in neurological manifestations of SARS-CoV-2 infection

Por Engin, Ayse Basak, Engin, Evren Doruk, Engin, Atilla
Publicado no Curr Opin Toxicol (2021)