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 *

116 related articles for article (PubMed ID: 27583304)

  • 1. MME mutation in dominant spinocerebellar ataxia with neuropathy (SCA43).
    Depondt C; Donatello S; Rai M; Wang FC; Manto M; Simonis N; Pandolfo M
    Neurol Genet; 2016 Oct; 2(5):e94. PubMed ID: 27583304
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
    Auer-Grumbach M; Toegel S; Schabhüttl M; Weinmann D; Chiari C; Bennett DLH; Beetz C; Klein D; Andersen PM; Böhme I; Fink-Puches R; Gonzalez M; Harms MB; Motley W; Reilly MM; Renner W; Rudnik-Schöneborn S; Schlotter-Weigel B; Themistocleous AC; Weishaupt JH; Ludolph AC; Wieland T; Tao F; Abreu L; Windhager R; Zitzelsberger M; Strom TM; Walther T; Scherer SS; Züchner S; Martini R; Senderek J
    Am J Hum Genet; 2016 Sep; 99(3):607-623. PubMed ID: 27588448
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.
    Jamiri Z; Khosravi R; Heidari MM; Kiani E; Gharechahi J
    Mol Genet Genomic Med; 2022 May; 10(5):e1913. PubMed ID: 35212467
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
    Higuchi Y; Hashiguchi A; Yuan J; Yoshimura A; Mitsui J; Ishiura H; Tanaka M; Ishihara S; Tanabe H; Nozuma S; Okamoto Y; Matsuura E; Ohkubo R; Inamizu S; Shiraishi W; Yamasaki R; Ohyagi Y; Kira J; Oya Y; Yabe H; Nishikawa N; Tobisawa S; Matsuda N; Masuda M; Kugimoto C; Fukushima K; Yano S; Yoshimura J; Doi K; Nakagawa M; Morishita S; Tsuji S; Takashima H
    Ann Neurol; 2016 Apr; 79(4):659-72. PubMed ID: 26991897
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying
    Lupo V; Frasquet M; Sánchez-Monteagudo A; Pelayo-Negro AL; García-Sobrino T; Sedano MJ; Pardo J; Misiego M; García-García J; Sobrido MJ; Martínez-Rubio MD; Chumillas MJ; Vílchez JJ; Vázquez-Costa JF; Espinós C; Sevilla T
    J Med Genet; 2018 Dec; 55(12):814-823. PubMed ID: 30415211
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
    Hong D; Fang P; Yao S; Chen J; Zhang X; Chen S; Zhang J; Tan D; Wang L; Han X; Xin L; Wang Y; Liu M; Cong L; Zhong S; Ouyang H; Gao X; Zhang J
    Ann Clin Transl Neurol; 2019 Sep; 6(9):1728-1738. PubMed ID: 31429185
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.
    Tsamis KI; Xiromerisiou G; Nikas IP; Giannakis A; Konitsiotis S; Sarmas I
    Lab Med; 2022 Mar; 53(2):210-214. PubMed ID: 34480178
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation.
    Tétreault M; Gonzalez M; Dicaire MJ; Allard P; Gehring K; Leblanc D; Leclerc N; Schondorf R; Mathieu J; Zuchner S; Brais B
    Brain; 2015 Jun; 138(Pt 6):1477-83. PubMed ID: 25818867
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.
    Ozaki K; Doi H; Mitsui J; Sato N; Iikuni Y; Majima T; Yamane K; Irioka T; Ishiura H; Doi K; Morishita S; Higashi M; Sekiguchi T; Koyama K; Ueda N; Miura Y; Miyatake S; Matsumoto N; Yokota T; Tanaka F; Tsuji S; Mizusawa H; Ishikawa K
    JAMA Neurol; 2015 Jul; 72(7):797-805. PubMed ID: 26010696
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Spinocerebellar ataxia with axonal neuropathy type 1 revisited.
    Scott P; Al Kindi A; Al Fahdi A; Al Yarubi N; Bruwer Z; Al Adawi S; Nandhagopal R
    J Clin Neurosci; 2019 Sep; 67():139-144. PubMed ID: 31182267
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
    Nishiguchi KM; Avila-Fernandez A; van Huet RA; Corton M; Pérez-Carro R; Martín-Garrido E; López-Molina MI; Blanco-Kelly F; Hoefsloot LH; van Zelst-Stams WA; García-Ruiz PJ; Del Val J; Di Gioia SA; Klevering BJ; van de Warrenburg BP; Vazquez C; Cremers FP; García-Sandoval B; Hoyng CB; Collin RW; Rivolta C; Ayuso C
    Ophthalmology; 2014 Aug; 121(8):1620-7. PubMed ID: 24697911
    [TBL] [Abstract][Full Text] [Related]  

  • 12. TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.
    Delplanque J; Devos D; Huin V; Genet A; Sand O; Moreau C; Goizet C; Charles P; Anheim M; Monin ML; Buée L; Destée A; Grolez G; Delmaire C; Dujardin K; Dellacherie D; Brice A; Stevanin G; Strubi-Vuillaume I; Dürr A; Sablonnière B
    Brain; 2014 Oct; 137(Pt 10):2657-63. PubMed ID: 25070513
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis.
    Dupuis M; Raymackers JM; Ackermans N; Boulanger S; Verellen-Dumoulin C
    Acta Neurol Belg; 2020 Feb; 120(1):149-154. PubMed ID: 31974930
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
    Al-Muhaizea MA; AlMutairi F; Almass R; AlHarthi S; Aldosary MS; Alsagob M; AlOdaib A; Colak D; Kaya N
    Cerebellum; 2018 Jun; 17(3):276-285. PubMed ID: 29196973
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
    Lee J; Jung SC; Hong YB; Yoo JH; Koo H; Lee JH; Hong HD; Kim SB; Chung KW; Choi BO
    Mol Med Rep; 2016 Jul; 14(1):33-40. PubMed ID: 27150940
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked heterozygous mutations in
    Xiao X; Li S; Jia X; Guo X; Zhang Q
    Mol Vis; 2016; 22():1257-1266. PubMed ID: 27829781
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies.
    Debiec H; Nauta J; Coulet F; van der Burg M; Guigonis V; Schurmans T; de Heer E; Soubrier F; Janssen F; Ronco P
    Lancet; 2004 Oct 2-8; 364(9441):1252-9. PubMed ID: 15464186
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Developmental dysplasia of the hip: linkage mapping and whole exome sequencing identify a shared variant in CX3CR1 in all affected members of a large multigeneration family.
    Feldman GJ; Parvizi J; Levenstien M; Scott K; Erickson JA; Fortina P; Devoto M; Peters CL
    J Bone Miner Res; 2013 Dec; 28(12):2540-9. PubMed ID: 23716478
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.
    Ichikawa Y; Ishiura H; Mitsui J; Takahashi Y; Kobayashi S; Takuma H; Kanazawa I; Doi K; Yoshimura J; Morishita S; Goto J; Tsuji S
    J Neurol Sci; 2013 Aug; 331(1-2):158-60. PubMed ID: 23786967
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.