These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

158 related articles for article (PubMed ID: 36964315)

  • 41. A novel variant in the dystonin gene causing hereditary sensory autonomic neuropathy type VI in a male infant: Case report and literature review.
    Sakaria RP; Fonville MP; Peravali S; Zaveri PG; Mroczkowski HJ; Caron E; Weems MF
    Am J Med Genet A; 2022 Apr; 188(4):1245-1250. PubMed ID: 34897952
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Hereditary sensory neuropathy type 1 in a Portuguese family-electrodiagnostic and autonomic nervous system studies.
    Geraldes R; de Carvalho M; Santos-Bento M; Nicholson G
    J Neurol Sci; 2004 Dec; 227(1):35-8. PubMed ID: 15546589
    [TBL] [Abstract][Full Text] [Related]  

  • 43. V144D Mutation of
    Ho KWD; Jerath NU
    Case Rep Genet; 2018; 2018():1898151. PubMed ID: 30420926
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Mutations in the yeast LCB1 and LCB2 genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate serine palmitoyltransferase.
    Gable K; Han G; Monaghan E; Bacikova D; Natarajan M; Williams R; Dunn TM
    J Biol Chem; 2002 Mar; 277(12):10194-200. PubMed ID: 11781309
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Disease mechanisms in hereditary sensory and autonomic neuropathies.
    Verpoorten N; De Jonghe P; Timmerman V
    Neurobiol Dis; 2006 Feb; 21(2):247-55. PubMed ID: 16183296
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
    Suriyanarayanan S; Othman A; Dräger B; Schirmacher A; Young P; Mulahasanovic L; Hörtnagel K; Biskup S; von Eckardstein A; Hornemann T; Lone MA
    Neuromolecular Med; 2019 Jun; 21(2):182-191. PubMed ID: 30955194
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.
    Suthar R; Sharawat IK; Eggermann K; Padmanabha H; Saini AG; Bharti B; Kurth I; Singhi P; Sankhyan N
    Neurol India; 2022; 70(1):231-237. PubMed ID: 35263888
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Specific Deoxyceramide Species Correlate with Expression of Macular Telangiectasia Type 2 (MacTel2) in a SPTLC2 Carrier HSAN1 Family.
    Wilson LMQ; Saba S; Li J; Prasov L; Miller JML
    Genes (Basel); 2023 Apr; 14(4):. PubMed ID: 37107689
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids.
    Penno A; Reilly MM; Houlden H; Laurá M; Rentsch K; Niederkofler V; Stoeckli ET; Nicholson G; Eichler F; Brown RH; von Eckardstein A; Hornemann T
    J Biol Chem; 2010 Apr; 285(15):11178-87. PubMed ID: 20097765
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
    Mohassel P; Abdullah M; Eichler FS; Dunn TM
    J Neuromuscul Dis; 2024; 11(4):735-747. PubMed ID: 38788085
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Hereditary sensory and autonomic neuropathy types 4 and 5: Review and proposal of a new rehabilitation method.
    Yozu A; Haga N; Funato T; Owaki D; Chiba R; Ota J
    Neurosci Res; 2016 Mar; 104():105-11. PubMed ID: 26562335
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Sural nerve pathology in TFG-associated motor neuron disease with sensory neuropathy.
    Li J; Meng L; Wu R; Xie Z; Gang Q; Zhang W; Wang Z; Yuan Y
    Neuropathology; 2019 Jun; 39(3):194-199. PubMed ID: 30957313
    [TBL] [Abstract][Full Text] [Related]  

  • 53. The NGF
    Testa G; Mainardi M; Morelli C; Olimpico F; Pancrazi L; Petrella C; Severini C; Florio R; Malerba F; Stefanov A; Strettoi E; Brandi R; Arisi I; Heppenstall P; Costa M; Capsoni S; Cattaneo A
    J Neurosci; 2019 Dec; 39(49):9702-9715. PubMed ID: 31685654
    [TBL] [Abstract][Full Text] [Related]  

  • 54. WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.
    Yuan JH; Hashiguchi A; Yoshimura A; Sakai N; Takahashi MP; Ueda T; Taniguchi A; Okamoto S; Kanazawa N; Yamamoto Y; Saigoh K; Kusunoki S; Ando M; Hiramatsu Y; Okamoto Y; Takashima H
    Clin Genet; 2017 Dec; 92(6):659-663. PubMed ID: 28422281
    [TBL] [Abstract][Full Text] [Related]  

  • 55. The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.
    Wang JJ; Yu B; Li Z
    BMC Med Genet; 2019 May; 20(1):91. PubMed ID: 31132985
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Hereditary sensory neuropathies.
    Auer-Grumbach M
    Drugs Today (Barc); 2004 May; 40(5):385-94. PubMed ID: 15319794
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.
    Potulska-Chromik A; Kabzińska D; Lipowska M; Kostera-Pruszczyk A; Kochański A
    Acta Biochim Pol; 2012; 59(3):413-5. PubMed ID: 22910560
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Phenotypes of a toddler with hereditary sensory and autonomic neuropathy type IV: comparing with normal: A case report.
    Xu Q; Wang Y; Zhou Y; Zhang L; Xiang X; Xie Y; Lu J; Li L; Zhu Y; Zhang Z; Zhang T; Li L
    Medicine (Baltimore); 2024 Jan; 103(3):e36955. PubMed ID: 38241559
    [TBL] [Abstract][Full Text] [Related]  

  • 59. New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1.
    Kölbel H; Kraft F; Hentschel A; Czech A; Gangfuss A; Mohassel P; Nguyen C; Stenzel W; Schara-Schmidt U; Preuße C; Roos A
    Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627278
    [No Abstract]   [Full Text] [Related]  

  • 60. Early onset (childhood) monogenic neuropathies.
    Landrieu P; Baets J
    Handb Clin Neurol; 2013; 115():863-91. PubMed ID: 23931819
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.