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pro vyhledávání: '"Distal amyotrophy"'
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Publikováno v:
Frontiers in Neurology
Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology, Vol 11 (2020)
Hirayama Disease (HD) is a rare clinical condition that usually affects young people with preference for Asian males. It appears with unilateral distal amyotrophy or asymmetric bilateral amyotrophy of an upper limb which is to refer to an involvement
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f43966b00869ffcf24dd822517b4b827
http://europepmc.org/articles/PMC7090124
http://europepmc.org/articles/PMC7090124
Autor:
Ivonne vanVlijmen-Willems, Marion Brisset, C. Badosa, Edoardo Malfatti, Robert-Yves Carlier, Joost Schalkwijk, Boris Keren, Pascal Laforêt, Valérie Jobic, Cecilia Jimenez-Mallebrera, Caterina Marques, Corinne Metay
Publikováno v:
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2020, 30 (10), pp.833-838. ⟨10.1016/j.nmd.2020.09.002⟩
Neuromuscular Disorders, 2020, 30 (10), pp.833-838. ⟨10.1016/j.nmd.2020.09.002⟩
Neuromuscular Disorders, 30, 10, pp. 833-838
Neuromuscular Disorders, 30, 833-838
Neuromuscular Disorders, Elsevier, 2020, 30 (10), pp.833-838. ⟨10.1016/j.nmd.2020.09.002⟩
Neuromuscular Disorders, 2020, 30 (10), pp.833-838. ⟨10.1016/j.nmd.2020.09.002⟩
Neuromuscular Disorders, 30, 10, pp. 833-838
Neuromuscular Disorders, 30, 833-838
International audience; Tenascin-X, is an extracellular matrix glycoprotein expressed in skin, muscle, tendons, and blood vessels with an anti-adhesive function. Biallelic Tenascin-X mutations cause classical-like Ehlers-Danlos syndrome. We report a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f277cb28b2afbe5476a3639246b44b
https://hal.archives-ouvertes.fr/hal-02984261
https://hal.archives-ouvertes.fr/hal-02984261
Autor:
Wladimir Bocca Vieira de Rezende Pinto, A.C.D. Assis, Acary Souza Bulle Oliveira, Fernando George Monteiro Naylor, Marco Antônio Troccoli Chieia, Paulo Victor Sgobbi de Souza, I. Lima e Teixeira, P.P. Nunes
Publikováno v:
Revue neurologique. 175(1-2)
Atypical motor neuron disease represents a rare heterogeneous group of neurodegenerative disorders with clinical, genetic and neuroimaging features distinct from those of the classic spinal or bulbar-onset amyotrophic lateral sclerosis (ALS). O'Sulli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5e9a2d01ea61dc7be038cdba0daba8a
https://pubmed.ncbi.nlm.nih.gov/30409480
https://pubmed.ncbi.nlm.nih.gov/30409480
Autor:
Luan Correia, Alexandra Prufer de Queiroz Campos Araújo, Luiz João Abraão, Marcondes C. França, Gilberto Miranda Barbosa, Eduardo Tavares Lima Trajano, Marco Orsini, Marcos R. G. de Freitas, Victor Hugo Bastos, Mauricio da Sant’Anna
Publikováno v:
Neurology International
Neurology International, Vol 10, Iss 2 (2018)
Neurology International, Vol 10, Iss 2 (2018)
Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8599e5700fae0401ff7ec2a0a6758dc0
https://pubmed.ncbi.nlm.nih.gov/30069287
https://pubmed.ncbi.nlm.nih.gov/30069287
Autor:
Jean-Michel Vallat, Benoît Funalot
Publikováno v:
médecine/sciences. 26:842-847
Charcot-Marie-Tooth (CMT) > is the generic name given to a group of genetic disorders characterized by a relatively isolated dysfunction of peripheral nerves, with combined motor and sensory impairment. These CMT syndromes are the most frequent genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d30711b125cbf857af6e63dad0998b0d
https://doi.org/10.1051/medsci/20102610842
https://doi.org/10.1051/medsci/20102610842
Autor:
Veerle Van Gerwen, Vincent Timmerman, Klaus Wagner, Luciano Merlini, Christian Windpassinger, Christine Verellen, Albena Jordanova, Peter Van den Bergh, Ines Dierick, Michaela Auer-Grumbach, Nathalie Verpoorten, Lionel Van Maldergem, Els De Vriendt, Joy Irobi, Peter De Jonghe
Publikováno v:
Brain
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5d903fcfbe019ecee37090c8ea6959
https://doi.org/10.1093/brain/awh232
https://doi.org/10.1093/brain/awh232
Autor:
Elvio Della Giustina, Enrico Farnetti, Daniele Frattini, Bruno Casali, Carlo Fusco, Davide Nicoli
Publikováno v:
Journal of Child Neurology. 27:1348-1350
Spastic paraplegia 3A is the second most common form of hereditary autosomal dominant spastic paraplegia. This form is mainly associated with an early age of onset and pure phenotype, although recently complicated forms were reported. We describe a p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c50e3d6959141c278960114224653b4
https://doi.org/10.1177/0883073811435245
https://doi.org/10.1177/0883073811435245
Autor:
Erika Souche, Koenraad Devriendt, Maureen Holvoet, Leila Dardour, Valerie Race, Filip Roelens
Publikováno v:
Cold Spring Harbor Molecular Case Studies
Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48e5021dc2b9b0fffef49a5e92977143
https://doi.org/10.1101/mcs.a001537
https://doi.org/10.1101/mcs.a001537
Autor:
C. A. Hughes, Victor Patterson, Stewart Webb, Michael Hutchinson, P. McMonagle, Paula C. Byrne, Nollaig A. Parfrey
Publikováno v:
Neurology. 56:1230-1233
The authors studied two families with autosomal recessive hereditary spastic paraplegia (HSP) complicated by the presence of additional symptoms of pigmented maculopathy, distal amyotrophy, dysarthria, mental retardation, and further intellectual det
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac156b7375d6611333effa7a01508326
https://doi.org/10.1212/wnl.56.9.1230
https://doi.org/10.1212/wnl.56.9.1230