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Quoted phrase not found in phrase index: "Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome"
Page 1
Guillain-Barre syndrome: clinical profile and management.
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R. Sudulagunta SR, et al. Ger Med Sci. 2015 Sep 21;13:Doc16. doi: 10.3205/000220. eCollection 2015. Ger Med Sci. 2015. PMID: 26421004 Free PMC article.
INTRODUCTION: Guillain-Barre syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in nature. ...Conduction block is the major abnormality noted in electrophysiological studies and proximal nerve segment assessing with …
INTRODUCTION: Guillain-Barre syndrome (GBS) is a fulminant polyradiculoneuropathy that is acute, frequently severe and autoimmune in …
Diabetic neuropathies: clinical manifestations and current treatment options.
Vinik A, Ullal J, Parson HK, Casellini CM. Vinik A, et al. Nat Clin Pract Endocrinol Metab. 2006 May;2(5):269-81. doi: 10.1038/ncpendmet0142. Nat Clin Pract Endocrinol Metab. 2006. PMID: 16932298 Review.
Diabetic neuropathies are a heterogeneous group of disorders that include a wide range of abnormalities. They can be focal or diffuse, proximal or distal, affecting both peripheral and autonomic nervous systems, causing morbidity with significant impact on the quality of l …
Diabetic neuropathies are a heterogeneous group of disorders that include a wide range of abnormalities. They can be focal or diffuse, pr …
Clinical and pathology characterization of small nerve fiber neuro(no)pathy in cerebellar ataxia with neuropathy and vestibular areflexia syndrome.
Tagliapietra M, Incensi A, Ferrarini M, Mesiano N, Furia A, Rizzo G, Liguori R, Cavallaro T, Monaco S, Fabrizi GM, Donadio V. Tagliapietra M, et al. Eur J Neurol. 2023 Dec;30(12):3834-3841. doi: 10.1111/ene.16018. Epub 2023 Aug 13. Eur J Neurol. 2023. PMID: 37531261
BACKGROUND AND PURPOSE: Biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestations ranging from isolated sensory neuro(no)pathy to a complex presentation as cerebellar ataxia with neuropathy and vestibular areflexia …
BACKGROUND AND PURPOSE: Biallelic mutation/expansion of the gene RFC1 has been described in association with a spectrum of manifestations ra …
Mild Guillain-Barre syndrome.
Green DM, Ropper AH. Green DM, et al. Arch Neurol. 2001 Jul;58(7):1098-101. doi: 10.1001/archneur.58.7.1098. Arch Neurol. 2001. PMID: 11448299
BACKGROUND: The unpredictability of the early course of Guillain-Barre syndrome (GBS) makes it difficult to determine which patients' conditions will worsen under observation. ...Nine of 12 patients had a preceding respiratory tract infection, 10 had paresthesias, 7 had pr …
BACKGROUND: The unpredictability of the early course of Guillain-Barre syndrome (GBS) makes it difficult to determine which patients' …
Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.
Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A. Rötig A, et al. Am J Hum Genet. 1992 Feb;50(2):364-70. Am J Hum Genet. 1992. PMID: 1531167 Free PMC article.
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a pluritissular disorder including diabetes mellitus, skin abnormalities, mitochondrial myopathy with ragged-red fibers, and cerebellar ataxia …
Two sisters in the first year of life presented with a proximal tubulopathy of unknown etiology. They subsequently developed a plurit …
Expanding the Spectrum of Chronic Immune Sensory Polyradiculopathy: CISP-Plus.
Shelly S, Shouman K, Paul P, Engelstad J, Amrami KK, Spinner RJ, Dubey D, Vazquez Do Campo R, Dyck PJ, Klein CJ, Dyck PJB. Shelly S, et al. Neurology. 2021 Apr 20;96(16):e2078-e2089. doi: 10.1212/WNL.0000000000011792. Epub 2021 Mar 2. Neurology. 2021. PMID: 33653905 Free PMC article.
We hypothesize that CISP-plus and CISP are fundamentally part of the same syndrome through comparison of clinical, neurophysiologic, and pathologic features. ...On examination, large fiber sensory loss was present in 98% (43/44) of patients with CISP-plus and 96% (27/28) o …
We hypothesize that CISP-plus and CISP are fundamentally part of the same syndrome through comparison of clinical, neurophysiologic, …
Long-term follow-up in patients with CCFDN syndrome.
Walter MC, Bernert G, Zimmermann U, Müllner-Eidenböck A, Moser E, Kalaydjieva L, Lochmüller H, Müller-Felber W. Walter MC, et al. Neurology. 2014 Oct 7;83(15):1337-44. doi: 10.1212/WNL.0000000000000874. Epub 2014 Sep 3. Neurology. 2014. PMID: 25186864
OBJECTIVE: We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome, providing new insights in the clinical course of the disease. ...In all patients, paresis of small …
OBJECTIVE: We describe the 10-year follow-up in a cohort of 16 patients with genetically confirmed congenital cataracts, facial dysmorphism, …
Mesencephalic and associated posterior circulation infarcts.
Kumral E, Bayulkem G, Akyol A, Yunten N, Sirin H, Sagduyu A. Kumral E, et al. Stroke. 2002 Sep;33(9):2224-31. doi: 10.1161/01.str.0000027438.93029.87. Stroke. 2002. PMID: 12215591
BACKGROUND AND PURPOSE: The purposes of this study were to evaluate and review the risk factors and clinical features of patients with posterior circulation stroke involving mesencephalon and neighboring structures and to describe the clinical syndromes according to the me …
BACKGROUND AND PURPOSE: The purposes of this study were to evaluate and review the risk factors and clinical features of patients with poste …
Bladder sensation in peripheral nerve lesions.
Yamaguchi C, Sakakibara R, Uchiyama T, Liu Z, Yamamoto T, Ito T, Awa Y, Yamamoto K, Kinou M, Yamanishi T, Nomura F, Hattori T. Yamaguchi C, et al. Neurourol Urodyn. 2006;25(7):763-9. doi: 10.1002/nau.20288. Neurourol Urodyn. 2006. PMID: 16986137
OBJECTIVE: To present bladder sensory data of three common peripheral nerve lesions (e.g., distal, intermediate/focal, and proximal). METHODS: We measured first sensation (FS) and bladder capacity (BC) (not exceeding 600 ml) in 71 patients with peripheral nerve lesions: 35 …
OBJECTIVE: To present bladder sensory data of three common peripheral nerve lesions (e.g., distal, intermediate/focal, and proximal). …
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Jacquemont S, et al. JAMA. 2004 Jan 28;291(4):460-9. doi: 10.1001/jama.291.4.460. JAMA. 2004. PMID: 14747503
The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor. Additional documented symptoms include short-term memory loss, executive functional deficits, cognitive decline, parkinsonism, peripheral neuropathy, l …
The main clinical features described in this newly identified syndrome are cerebellar ataxia and intention tremor. Additional …
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