Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Reduced tendon reflexes"'
Autor:
Franco Laccone, Josef Finsterer
Publikováno v:
Metabolic Brain Disease. 34:1023-1027
OPA1 variants most frequently manifest phenotypically with pure autosomal dominant optic atrophy (ADOA) or with ADOA plus. The most frequent abnormalities in ADOA plus in addition to the optic nerve affection include hypoacusis, migraine, myopathy, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d628c4bc6cd7bdeb9dd1073f6224c6d
https://doi.org/10.1007/s11011-019-00425-0
https://doi.org/10.1007/s11011-019-00425-0
Autor:
Christopher A. Walsh, Mariam Almureikhi, A. James Barkovich, Nada Alaaraj, Tawfeg Ben-Omran, Shenela Lakhani, Jennifer N. Partlow, Ryan N. Doan, Muna Al Saffar, Mahmoud F. Elsaid
Publikováno v:
European Journal of Medical Genetics. 60:245-249
Arthrogryposis multiplex congenital, the occurrence of multiple joint contractures at birth, can in some cases be accompanied by insufficient myelination of peripheral nerves, muscular hypotonia, reduced tendon reflexes, and respiratory insufficiency
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aadf62692ab45aba7827376e619f5dc
https://doi.org/10.1016/j.ejmg.2017.02.006
https://doi.org/10.1016/j.ejmg.2017.02.006
Autor:
Josef Finsterer, Martin Gencik
Publikováno v:
Case Reports in Genetics
Case Reports in Genetics, Vol 2015 (2015)
Case Reports in Genetics, Vol 2015 (2015)
Objectives.Although hereditary neuropathy with liability to pressure palsies (HNPP) presents with a distinct phenotype on history, clinical exam, and nerve conduction studies, it may be masked if diagnostic work-up suggests other causes.Case Report.I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6fe3cb4c1267f1e0abafe24cf967c3
https://doi.org/10.1155/2015/738469
https://doi.org/10.1155/2015/738469
Publikováno v:
Journal of Neuroscience. 32:9369-9373
Friedreich ataxia (FRDA) is the most common inherited ataxia caused primarily by an intronic GAA.TTC triplet repeat expansion in the frataxin ( FXN ) gene. FXN RNA and protein levels are reduced in patients leading to progressive gait and limb ataxia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a58246a96273e49ed373ba015c65ff64
https://doi.org/10.1523/jneurosci.0059-12.2012
https://doi.org/10.1523/jneurosci.0059-12.2012
Autor:
Sien-Tsong Chen, Rong-Kuo Lyu
Publikováno v:
Muscle & Nerve. 30:433-436
Three patients with acute multiple cranial neuropathy following benign infectious disease are reported. Complete or partial ophthalmoplegia, as well as facial and bulbar dysfunction, were noted in all. Cranial nerve involvement was bilateral. Other n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e1aba27bd1b81b6911dbc0949ac40cd
https://doi.org/10.1002/mus.20136
https://doi.org/10.1002/mus.20136
Autor:
Klaus Wagner, Michaela Auer-Grumbach, Wolfgang Löscher, Hans-Peter Hartung, S. Strasser-Fuchs, Michael M. Millner, Franz Fazekas
Publikováno v:
Muscle & Nerve. 23:1243-1249
We report an Austrian family with proximal muscle weakness and wasting predominantly of the shoulder girdle musculature, normal or slightly reduced distal muscle power, mild foot deformity, absent or reduced tendon reflexes in the lower limbs, and no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::efe99783fcf40cf092bcab0158382f5f
https://doi.org/10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co
https://doi.org/10.1002/1097-4598(200008)23:8<1243::aid-mus13>3.0.co
Autor:
Vrinten, Charlotte, Gu, Xin, Weinreich, Stephanie S, Schipper, Mirjam H, Wessels, Judith, Ferrari, Michel D, Hoijtink, Herbert, Verschuuren, Jan J G M, Leerstoel Hoijtink, Methodology and statistics for the behavioural and social sciences
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry. BMJ Publishing Group
Journal of Neurology, Neurosurgery and Psychiatry. BMJ Publishing Group
Hereditary neuropathy with liability to pressure palsy (HNPP; tomaculous neuropathy) is a rare autosomal dominant disorder caused by a loss of function of the peripheral myelin protein 22 gene ( PMP22 ; OMIM #601097) for which no curative treatment e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fdf5bbba1f7b597f2657aaf8b79a64
http://europepmc.org/articles/PMC4941134
http://europepmc.org/articles/PMC4941134
Autor:
R. Di Leo, Vincenzo Provitera, Giulia Pierangeli, Pietro Cortelli, Helge Boman, Giuseppe Vita, Maria Nolano, Carmelo Rodolico, Per M. Knappskog
Publikováno v:
Neurology. 75(17)
Cold-induced sweating syndrome type 1 (CISS1) is a rare disorder characterized by profuse sweating in a cold environment, determined by mutations in cytokine receptor–like factor 1 ( CRLF1 ).1 Its pathogenesis is not fully understood. It has been d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc14b5847be02ae6c15ef272f5a66324
https://pubmed.ncbi.nlm.nih.gov/20975058
https://pubmed.ncbi.nlm.nih.gov/20975058
Autor:
S. Monaco, Tiziana Cavallaro, E. Concon, M. Turri, M.C. Tozzi, Gian Maria Fabrizi, Laura Bertolasi
Publikováno v:
Clinical Neurophysiology. 126:e15
Charcot–Marie–Tooth disease (CMT) is an heterogeneous group of hereditary neuropathies characterized by weakness and atrophy of the limbs, loss of sensation and absent or reduced tendon reflexes. Chronic Inflammatory Demyelinating Polyneuropathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::edbf11f07dbe848986c563253f32f6b0
https://doi.org/10.1016/j.clinph.2014.10.084
https://doi.org/10.1016/j.clinph.2014.10.084
Autor:
Christa Jarius, Josef Finsterer
Publikováno v:
Clinical neurology and neurosurgery. 105(4)
Objectives Few data are available about myopathy and polyneuropathy as rare side effects of chloroquine treatment. Even more rarely are cerebrospinal fluid (CSF) abnormalities in chloroquine polyneuropathy/myopathy. Case description The patient is an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556f62411d25bbbd3dea107281e8e26f
https://pubmed.ncbi.nlm.nih.gov/12954536
https://pubmed.ncbi.nlm.nih.gov/12954536