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 *

124 related articles for article (PubMed ID: 36879630)

  • 21. Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis.
    Citterio A; Arnoldi A; Panzeri E; D'Angelo MG; Filosto M; Dilena R; Arrigoni F; Castelli M; Maghini C; Germiniasi C; Menni F; Martinuzzi A; Bresolin N; Bassi MT
    J Neurol; 2014 Feb; 261(2):373-81. PubMed ID: 24337409
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.
    Hoshi M; Koshimizu E; Miyatake S; Matsumoto N; Imamura A
    Brain Dev; 2019 Jan; 41(1):101-105. PubMed ID: 30077506
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.
    Depienne C; Bugiani M; Dupuits C; Galanaud D; Touitou V; Postma N; van Berkel C; Polder E; Tollard E; Darios F; Brice A; de Die-Smulders CE; Vles JS; Vanderver A; Uziel G; Yalcinkaya C; Frints SG; Kalscheuer VM; Klooster J; Kamermans M; Abbink TE; Wolf NI; Sedel F; van der Knaap MS
    Lancet Neurol; 2013 Jul; 12(7):659-68. PubMed ID: 23707145
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
    Khorrami M; Tabatabaiefar MA; Khorram E; Yaghini O; Rezaei M; Hejazifar A; Riahinezhad M; Kheirollahi M
    J Hum Genet; 2021 Oct; 66(10):973-981. PubMed ID: 33767317
    [TBL] [Abstract][Full Text] [Related]  

  • 25. VPS13D-based disease: Expansion of the clinical phenotype in two brothers and mutation diversity in the Turkish population.
    Öztop-Çakmak Ö; Şimşir G; Tekgül Ş; Aygün MS; Gökler O; Kahyaoğlu B; Kaya ZE; Palvadeau R; Başak AN; Ertan S
    Rev Neurol (Paris); 2022 Nov; 178(9):907-913. PubMed ID: 36156252
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.
    Viertauer S; Kurth I; Eggermann K; Eggers C
    J Neurol; 2022 Dec; 269(12):6476-6482. PubMed ID: 35947152
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [A case of spastic paraplegia 48 with a novel mutation in the AP5Z1 gene].
    Maruta K; Ando M; Otomo T; Takashima H
    Rinsho Shinkeigaku; 2020 Aug; 60(8):543-548. PubMed ID: 32641631
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Niemann-Pick type C disease and psychosis: Two siblings].
    Maubert A; Hanon C; Metton JP
    Encephale; 2015 Jun; 41(3):238-43. PubMed ID: 25238906
    [TBL] [Abstract][Full Text] [Related]  

  • 29. POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
    Di Donato I; Gallo A; Ricca I; Fini N; Silvestri G; Gurrieri F; Cirillo M; Cerase A; Natale G; Matrone F; Riso V; Melone MAB; Tessa A; De Michele G; Federico A; Filla A; Dotti MT; Santorelli FM
    Neurol Sci; 2022 Feb; 43(2):1071-1077. PubMed ID: 34296356
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation.
    Warnecke T; Duning T; Schwan A; Lohmann H; Epplen JT; Young P
    Neurology; 2007 Jul; 69(4):368-75. PubMed ID: 17646629
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy.
    Jung JH; Seo JH; Lee S; Heo YJ; Kim D; Chung EJ; Oh SI
    J Mov Disord; 2022 Jan; 15(1):71-74. PubMed ID: 34937161
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.
    Almatrafi A; Umair M; Eldardear A; Al-Luqmani M; Hashmi JA; Albalawi AM; Alfadhel M; Ramzan K; Basit S
    J Gene Med; 2020 Aug; 22(8):e3196. PubMed ID: 32246862
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A Novel
    Votsi C; Ververis A; Nicolaou P; Christou YP; Christodoulou K; Zamba-Papanicolaou E
    Front Genet; 2021; 12():812640. PubMed ID: 35096021
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel homozygous
    Gaier ED; Sahai I; Wiggs JL; McGeeney B; Hoffman J; Peeler CE
    Ophthalmic Genet; 2019 Dec; 40(6):570-573. PubMed ID: 31928268
    [No Abstract]   [Full Text] [Related]  

  • 35. [A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family].
    Zhang LP; Wang YF
    Zhonghua Nei Ke Za Zhi; 2022 Dec; 61(12):1343-1350. PubMed ID: 36456515
    [No Abstract]   [Full Text] [Related]  

  • 36. 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]  

  • 37. KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.
    Marchionni E; Méneret A; Keren B; Melki J; Denier C; Durr A; Apartis E; Boespflug-Tanguy O; Mochel F
    Tremor Other Hyperkinet Mov (N Y); 2019; 9():. PubMed ID: 31413903
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Photoreceptor degeneration, azoospermia, leukoencephalopathy, and abnormal RPE cell function in mice expressing an early stop mutation in CLCN2.
    Edwards MM; Marín de Evsikova C; Collin GB; Gifford E; Wu J; Hicks WL; Whiting C; Varvel NH; Maphis N; Lamb BT; Naggert JK; Nishina PM; Peachey NS
    Invest Ophthalmol Vis Sci; 2010 Jun; 51(6):3264-72. PubMed ID: 20071672
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
    Synofzik M; Soehn AS; Gburek-Augustat J; Schicks J; Karle KN; Schüle R; Haack TB; Schöning M; Biskup S; Rudnik-Schöneborn S; Senderek J; Hoffmann KT; MacLeod P; Schwarz J; Bender B; Krüger S; Kreuz F; Bauer P; Schöls L
    Orphanet J Rare Dis; 2013 Mar; 8():41. PubMed ID: 23497566
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
    Kuipers DJS; Tufekcioglu Z; Bilgiç B; Olgiati S; Dremmen MHG; van IJcken WFJ; Breedveld GJ; Mancini GMS; Hanagasi HA; Emre M; Bonifati V
    Parkinsonism Relat Disord; 2019 Sep; 66():228-231. PubMed ID: 31431325
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.