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Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin

Autor: Andreas R. Janecke, Jan Senderek, Slave Trajanoski, Regina Fink-Puches, Christian Windpassinger, Anton Haas, Laila El Shabrawi-Caelen, Piet Auer-Grumbach, Martin Weger, Dieter Metze, Maria Schabhüttl, Lea Papić, Eleonore Fröhlich, Thomas R. Pieber, Michaela Auer-Grumbach, Herbert Budka, Christian Guelly

Publikováno v: Brain: A Journal of Neurology, 134

To identify the disease-causing gene responsible for an autosomal dominantly inherited Charcot–Marie–Tooth neuropathy subtype in a family excluded for mutations in the common Charcot–Marie–Tooth genes, we used array-based sequence capture to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::406c320d1b12741e170209b4dabef26e
http://doc.rero.ch/record/294441/files/awr076.pdf

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The N355K atlastin 1 mutation is associated with hereditary sensory neuropathy and pyramidal tract features

Autor: Lea Leonardis, Lea Papić, Janez Zidar, Michaela Auer-Grumbach

Publikováno v: European Journal of Neurology. 19:992-998

Background and purpose: Mutations in atlastin-1 (ATL-1), a gene known to cause pure, early-onset autosomal dominant hereditary spastic paraplegia SPG3A, have been recently reported to cause hereditary sensory neuropathy I (HSN I). We describe the det

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0acaf6d9516acbf4e3f1f4904c1d2a26
https://doi.org/10.1111/j.1468-1331.2012.03665.x

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SNP-array based whole genome homozygosity mapping: A quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients

Autor: Reginald E. Bittner, Karin Gruber, Maria Schabhüttl, Lea Papić, Romana Höftberger, Michaela Auer-Grumbach, Wolfgang M. Schmidt, Thomas R. Pieber, Dirk Fischer, Carina Fischer, Andreas R. Janecke, Thomas Ströbel, Slave Trajanoski

Publikováno v: European Journal of Medical Genetics

A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc663db66c88e7c4c8f522ef0d67cae1

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Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

Publikováno v: Am. J. Hum. Genet. 88, 99-105 (2011)
The American journal of human genetics

Hereditary sensory neuropathy type I (HSN I) is an axonal form of autosomal-dominant hereditary motor and sensory neuropathy distinguished by prominent sensory loss that leads to painless injuries. Unrecognized, these can result in delayed wound heal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34a83b4b0c4b26098e671b60b4b88cc6

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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Publikováno v: Nature Genetics, 42(2), 160-U96. Nature Publishing Group
Nature Genetics, 42, 160-4
Nature Genetics, 42, 2, pp. 160-4

Contains fulltext : 88054_2.pdf (Publisher’s version ) (Closed access) Contains fulltext : 88054.pdf (author's version ) (Open Access) Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and hereditary motor and sensory neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdf189c0ddaf9a059574fab2ad615f8a
https://research.rug.nl/en/publications/ddf1b88a-8439-46db-9165-56f5528ca6b1

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Motor neuron, nerve, and neuromuscular junction disease

Autor: Michaela Auer-Grumbach, Lea Papić, Josef Finsterer

Publikováno v: Current opinion in neurology. 24(5)

The aim is to review the most relevant findings published during the last year concerning clinical, genetic, pathogenic, and therapeutic advances in motor neuron disease, neuropathies, and neuromuscular junction disorders.Studies on animal and cell m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb2b1110034efb80c7afd317d683235
https://pubmed.ncbi.nlm.nih.gov/21825986

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SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease

Autor: Michaela Auer-Grumbach, G. Bernert, Wolfgang Löscher, Slave Trajanoski, Maria Schabhüttl, Lea Papić, Jan Senderek, Barbara Plecko, Mine Arslan-Kirchner, Andreas R. Janecke, Michael Freilinger, Poupak Javaher-Haghighi, C. Rauscher, Carina Fischer, Christian Windpassinger, Thomas R. Pieber

Publikováno v: Journal of Neurology

Considerable non-allelic heterogeneity for autosomal recessively inherited Charcot-Marie-Tooth (ARCMT) disease has challenged molecular testing and often requires a large amount of work in terms of DNA sequencing and data interpretation or remains un

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dee383215fb6172609ce553a7ead8d8c
https://pubmed.ncbi.nlm.nih.gov/21892769

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Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Autor: Christian Windpassinger, Carina Fischer, Franz Grill, Thomas R. Pieber, Reginald E. Bittner, G. Miltenberger, Michaela Auer-Grumbach, Barbara Plecko, G. Bernert, Vincent Timmerman, Lea Papić, E. John, Michael R. Speicher, Andreas R. Janecke, R. Schwarz

Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46eee106164a70cee6f9d766705133c8
https://europepmc.org/articles/PMC3272394/

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