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Quoted phrase not found in phrase index: "Hereditary sensory and autonomic neuropathy type 7"
Page 1
Hereditary sensory neuropathy type I.
Auer-Grumbach M. Auer-Grumbach M. Orphanet J Rare Dis. 2008 Mar 18;3:7. doi: 10.1186/1750-1172-3-7. Orphanet J Rare Dis. 2008. PMID: 18348718 Free PMC article. Review.
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood dis …
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prom …
Genetic, electrophysiological, and pathological studies on patients with SCN9A-related pain disorders.
Yuan JH, Cheng X, Matsuura E, Higuchi Y, Ando M, Hashiguchi A, Yoshimura A, Nakachi R, Mine J, Taketani T, Maeda K, Kawakami S, Kira R, Tanaka S, Kanai K, Dib-Hajj F, Dib-Hajj SD, Waxman SG, Takashima H. Yuan JH, et al. J Peripher Nerv Syst. 2023 Dec;28(4):597-607. doi: 10.1111/jns.12590. Epub 2023 Aug 18. J Peripher Nerv Syst. 2023. PMID: 37555797
We conducted a gene-panel sequencing targeting 18 genes associated with hereditary sensory and/or autonomic neuropathy. We introduced novel SCN9A mutation (F1624S) into a GFP-2A-Nav1.7rNS plasmid, and the constructs were then transiently transfected in …
We conducted a gene-panel sequencing targeting 18 genes associated with hereditary sensory and/or autonomic neuropat …
Development of MRC Centre MRI calf muscle fat fraction protocol as a sensitive outcome measure in Hereditary Sensory Neuropathy Type 1.
Kugathasan U, Evans MRB, Morrow JM, Sinclair CDJ, Thornton JS, Yousry TA, Hornemann T, Suriyanarayanan S, Owusu-Ansah K, Lauria G, Lombardi R, Polke JM, Wilson E, Bennett DLH, Houlden H, Hanna MG, Blake JC, Laura M, Reilly MM. Kugathasan U, et al. J Neurol Neurosurg Psychiatry. 2019 Aug;90(8):895-906. doi: 10.1136/jnnp-2018-320198. Epub 2019 Apr 17. J Neurol Neurosurg Psychiatry. 2019. PMID: 30995999 Free article.
OBJECTIVES: Hereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing profound sensory deficits and often severe motor loss. ...We performed a 12-month natural history study to characterise the phenotype …
OBJECTIVES: Hereditary sensory neuropathy type 1 (HSN1) is a rare, slowly progressive neuropathy causing …
Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
Loggia ML, Bushnell MC, Tétreault M, Thiffault I, Bhérer C, Mohammed NK, Kuchinad AA, Laferrière A, Dicaire MJ, Loisel L, Mogil JS, Brais B. Loggia ML, et al. J Neurosci. 2009 Feb 18;29(7):2162-6. doi: 10.1523/JNEUROSCI.4633-08.2009. J Neurosci. 2009. PMID: 19228968 Free PMC article.
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. ...Furthermore, the differences between …
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder ch …
Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS).
Cruz MW, Pinto MV, Pinto LF, Gervais R, Dias M, Perez C, Mundayat R, Ong ML, Pedrosa RC, Foguel D. Cruz MW, et al. Arq Neuropsiquiatr. 2019 Feb;77(2):96-100. doi: 10.1590/0004-282X20180156. Arq Neuropsiquiatr. 2019. PMID: 30810593 Free article.
At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. ...Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy....
At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. ...Misdiagnosis is common …
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G. Moghadam KK, et al. Brain. 2014 Jun;137(Pt 6):1643-55. doi: 10.1093/brain/awu069. Epub 2014 Apr 10. Brain. 2014. PMID: 24727570 Free article.
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropat …
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous …
Surveillance for disease progression of transthyretin amyloidosis after heart transplantation in the era of novel disease modifying therapies.
Griffin JM, Baughan E, Rosenblum H, Clerkin KJ, Fried JA, Raikhelkar J, Uriel N, Brannagan TH, Takeda K, Grodin JL, Marboe C, Maurer MS, Farr MA. Griffin JM, et al. J Heart Lung Transplant. 2022 Feb;41(2):199-207. doi: 10.1016/j.healun.2021.10.007. Epub 2021 Oct 25. J Heart Lung Transplant. 2022. PMID: 34922822
Baseline demographics and post-HT manifestations of TTR deposition were collected. All patients completed the Composite Autonomic Symptom Score (COMPASS-31 quantifies autonomic symptoms, with a higher score [0-100] indicating more severe autonomic …
Baseline demographics and post-HT manifestations of TTR deposition were collected. All patients completed the Composite Autonomic Sym …
Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.
Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S. Kikuchi JK, et al. J Mol Neurosci. 2021 Sep;71(9):1796-1801. doi: 10.1007/s12031-020-01784-5. Epub 2021 Jan 12. J Mol Neurosci. 2021. PMID: 33433851 Review.
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebella …
The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory …
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ. Baets J, et al. Brain. 2015 Apr;138(Pt 4):845-61. doi: 10.1093/brain/awv010. Epub 2015 Feb 11. Brain. 2015. PMID: 25678562 Free PMC article.
We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neuropathy type 1E (HSAN1E) and a potential pathogenic mechanism for DNA methyltransferase (DNMT1) mutations. ...The average survival o …
We report a broader than previously appreciated clinical spectrum for hereditary sensory and autonomic neurop …
Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
Echaniz-Laguna A, Dubourg O, Carlier P, Carlier RY, Sabouraud P, Péréon Y, Chapon F, Thauvin-Robinet C, Laforêt P, Eymard B, Latour P, Stojkovic T. Echaniz-Laguna A, et al. Neurology. 2014 May 27;82(21):1919-26. doi: 10.1212/WNL.0000000000000450. Epub 2014 Apr 30. Neurology. 2014. PMID: 24789864
Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal hereditary motor neuropathy, 14 with congenital spinal muscular atrophy and arthrogryposis, 13 with CMT2, and 8 with scapuloperonea …
Ninety-five patients had dominant Charcot-Marie-Tooth type 2 (CMT2) disease, and 74 patients, including 39 patients with distal he …
15 results