Výsledky vyhledávání - "Progressive spastic paraplegia"

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Childhood Seeligmüller Strümpell Philip Disease: The First Case in Iraq and a Review of the Early Historic Documentation of the Disease in the Literature

Autor: Al-Mosawi Aj

Publikováno v: Asploro Journal of Pediatrics and Child Health. 2:52-55

Seeligmüller Strümpell Philip disease is characterized by familial progressive spastic paraplegia or paraparesis associated with a progressive deterioration of gait. The disorder is genetically heterogeneous and can be inherited in an autosomal dom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f28a8fce9b0e12389d0838e02471c273
https://doi.org/10.36502/2020/asjpch.6157

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Teaching NeuroImages: MRI Abnormalities of Spinal Dural Arteriovenous Fistula in the Absence of Flow Voids

Autor: Henrique Costa, Andre B. Araujo, Marta Rodrigues, Manuel Ribeiro, Andre Miguel Miranda, Sérgio Castro

Publikováno v: Neurology. 97:e324-e325

A 66-year-old woman presented with progressive spastic paraplegia and lumbar pain. Physical examination revealed hyperreflexia in lower extremities, reduced pinprick and vibration up to D12, and impaired hallux proprioception. Spinal MRI revealed mul

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11516de91ec7a23c4a588dc9b1ebc1ba
https://doi.org/10.1212/wnl.0000000000012053

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Rapidly progressive spastic paraplegia due to hyperhomocysteinemia in child with MTHFR gene mutation and mitochondrial Complex I deficiency: A rare association

Autor: Jennifer Kovoor, Sandhya Alappati, Nibu Varghese, Jyothi Gautam, Pooja Mailankody, Hansashree Padmanabha, RohanR Mahale, Gautam Arunachal, Mathuranath Pavagada

Publikováno v: Journal of Pediatric Neurosciences

MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cau

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56fdb3aa46fef1bad5fa4a54088f4ee
https://doi.org/10.4103/jpn.jpn_96_20

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Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings

Autor: Graziana Scigliuolo, Anna Sagnelli, Riccardo Benti, Luisa Chiapparini, Davide Pareyson, Daniela Di Bella, Davide Tonduti, Ettore Salsano, Giorgio Marotta, Laura Farina, Franco Taroni, Monica Consonni, Stefania Magri

Publikováno v: Journal of Neurology. 263:591-593

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::546f57553a0869ffa6985d8cdd28f40e
https://doi.org/10.1007/s00415-016-8020-8

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GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia

Autor: Robert S. Greenwood, Yael Shiloh-Malawsky, Zheng Fan, Kirk C. Wilhelmsen, Ana Felix, Kristy Crooks, James P. Evans, Michael B. Tennison, Karen E. Weck, Myra I. Roche, Jonathan S. Berg

Publikováno v: Journal of Neurology. 261:622-624

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c5fc292fccc2d6c747da4a7b0e77be8
https://doi.org/10.1007/s00415-014-7265-3

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SPG20 mutation in three siblings with familial hereditary spastic paraplegia

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

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Identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E: a new syndrome or variant of Fitzsimmons-Guilbert syndrome?

Autor: Cristino Dijamco, Catherine McElveen, Marta I. Arriaza, Yves Lacassie, M. Caroline Duncan, Paul F. Stahls

Publikováno v: American Journal of Medical Genetics. 84:90-93

We report on concordantly affected female identical twins with mental retardation, dysarthria, progressive spastic paraplegia, and brachydactyly type E. The most similar condition reported is the syndrome described by Fitzsimmons and Guilbert in unio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e7075f7027250f6dff9ac8b0d198a79
https://doi.org/10.1002/(sici)1096-8628(19990521)84:2<90::aid-ajmg2>3.0.co

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Adult onset Alexander disease presenting with progressive spastic paraplegia

Autor: José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Salmo Raskin, Acary Souza Bulle Oliveira

Publikováno v: Parkinsonism & Related Disorders. 20:241-242

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ddbf1850bf809b28051c32b5c3141ff
https://doi.org/10.1016/j.parkreldis.2013.10.014

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