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 *

143 related articles for article (PubMed ID: 36966328)

  • 1. Mutation screening of SPTLC1 and SPTLC2 in amyotrophic lateral sclerosis.
    Li C; Hou Y; Wei Q; Lin J; Jiang Z; Jiang Q; Yang T; Xiao Y; Huang J; Cheng Y; Ou R; Liu K; Chen X; Song W; Zhao B; Wu Y; Cao B; Chen Y; Shang H
    Hum Genomics; 2023 Mar; 17(1):28. PubMed ID: 36966328
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurrent de novo
    Syeda SB; Lone MA; Mohassel P; Donkervoort S; Munot P; França MC; Galarza-Brito JE; Eckenweiler M; Asamoah A; Gable K; Majumdar A; Schumann A; Gupta SD; Lakhotia A; Shieh PB; Foley AR; Jackson KE; Chao KR; Winder TL; Catapano F; Feng L; Kirschner J; Muntoni F; Dunn TM; Hornemann T; Bönnemann CG
    J Neurol Neurosurg Psychiatry; 2024 Jan; 95(2):103-113. PubMed ID: 38041679
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Recurrent
    Dohrn MF; Beijer D; Lone MA; Bayraktar E; Oflazer P; Orbach R; Donkervoort S; Foley AR; Rose A; Lyons M; Louie RJ; Gable K; Dunn T; Chen S; Danzi MC; Synofzik M; Bönnemann CG; Nazlı Başak A; Hornemann T; Zuchner S
    J Neurol Neurosurg Psychiatry; 2024 Feb; 95(3):201-205. PubMed ID: 38041684
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
    Johnson JO; Chia R; Miller DE; Li R; Kumaran R; Abramzon Y; Alahmady N; Renton AE; Topp SD; Gibbs JR; Cookson MR; Sabir MS; Dalgard CL; Troakes C; Jones AR; Shatunov A; Iacoangeli A; Al Khleifat A; Ticozzi N; Silani V; Gellera C; Blair IP; Dobson-Stone C; Kwok JB; Bonkowski ES; Palvadeau R; Tienari PJ; Morrison KE; Shaw PJ; Al-Chalabi A; Brown RH; Calvo A; Mora G; Al-Saif H; Gotkine M; Leigh F; Chang IJ; Perlman SJ; Glass I; Scott AI; Shaw CE; Basak AN; Landers JE; Chiò A; Crawford TO; Smith BN; Traynor BJ; ; Smith BN; Ticozzi N; Fallini C; Gkazi AS; Topp SD; Scotter EL; Kenna KP; Keagle P; Tiloca C; Vance C; Troakes C; Colombrita C; King A; Pensato V; Castellotti B; Baas F; Ten Asbroek ALMA; McKenna-Yasek D; McLaughlin RL; Polak M; Asress S; Esteban-Pérez J; Stevic Z; D'Alfonso S; Mazzini L; Comi GP; Del Bo R; Ceroni M; Gagliardi S; Querin G; Bertolin C; van Rheenen W; Rademakers R; van Blitterswijk M; Lauria G; Duga S; Corti S; Cereda C; Corrado L; Sorarù G; Williams KL; Nicholson GA; Blair IP; Leblond-Manry C; Rouleau GA; Hardiman O; Morrison KE; Veldink JH; van den Berg LH; Al-Chalabi A; Pall H; Shaw PJ; Turner MR; Talbot K; Taroni F; García-Redondo A; Wu Z; Glass JD; Gellera C; Ratti A; Brown RH; Silani V; Shaw CE; Landers JE; Dalgard CL; Adeleye A; Soltis AR; Alba C; Viollet C; Bacikova D; Hupalo DN; Sukumar G; Pollard HB; Wilkerson MD; Martinez EM; Abramzon Y; Ahmed S; Arepalli S; Baloh RH; Bowser R; Brady CB; Brice A; Broach J; Campbell RH; Camu W; Chia R; Cooper-Knock J; Ding J; Drepper C; Drory VE; Dunckley TL; Eicher JD; England BK; Faghri F; Feldman E; Floeter MK; Fratta P; Geiger JT; Gerhard G; Gibbs JR; Gibson SB; Glass JD; Hardy J; Harms MB; Heiman-Patterson TD; Hernandez DG; Jansson L; Kirby J; Kowall NW; Laaksovirta H; Landeck N; Landi F; Le Ber I; Lumbroso S; MacGowan DJL; Maragakis NJ; Mora G; Mouzat K; Murphy NA; Myllykangas L; Nalls MA; Orrell RW; Ostrow LW; Pamphlett R; Pickering-Brown S; Pioro EP; Pletnikova O; Pliner HA; Pulst SM; Ravits JM; Renton AE; Rivera A; Robberecht W; Rogaeva E; Rollinson S; Rothstein JD; Scholz SW; Sendtner M; Shaw PJ; Sidle KC; Simmons Z; Singleton AB; Smith N; Stone DJ; Tienari PJ; Troncoso JC; Valori M; Van Damme P; Van Deerlin VM; Van Den Bosch L; Zinman L; Landers JE; Chiò A; Traynor BJ; Angelocola SM; Ausiello FP; Barberis M; Bartolomei I; Battistini S; Bersano E; Bisogni G; Borghero G; Brunetti M; Cabona C; Calvo A; Canale F; Canosa A; Cantisani TA; Capasso M; Caponnetto C; Cardinali P; Carrera P; Casale F; Chiò A; Colletti T; Conforti FL; Conte A; Conti E; Corbo M; Cuccu S; Dalla Bella E; D'Errico E; DeMarco G; Dubbioso R; Ferrarese C; Ferraro PM; Filippi M; Fini N; Floris G; Fuda G; Gallone S; Gianferrari G; Giannini F; Grassano M; Greco L; Iazzolino B; Introna A; La Bella V; Lattante S; Lauria G; Liguori R; Logroscino G; Logullo FO; Lunetta C; Mandich P; Mandrioli J; Manera U; Manganelli F; Marangi G; Marinou K; Marrosu MG; Martinelli I; Messina S; Moglia C; Mora G; Mosca L; Murru MR; Origone P; Passaniti C; Petrelli C; Petrucci A; Pozzi S; Pugliatti M; Quattrini A; Ricci C; Riolo G; Riva N; Russo M; Sabatelli M; Salamone P; Salivetto M; Salvi F; Santarelli M; Sbaiz L; Sideri R; Simone I; Simonini C; Spataro R; Tanel R; Tedeschi G; Ticca A; Torriello A; Tranquilli S; Tremolizzo L; Trojsi F; Vasta R; Vacchiano V; Vita G; Volanti P; Zollino M; Zucchi E
    JAMA Neurol; 2021 Oct; 78(10):1236-1248. PubMed ID: 34459874
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lack of association of TP73 rare variants with amyotrophic lateral sclerosis in a Chinese cohort.
    Li C; Hou Y; Wei Q; Lin J; Jiang Q; Yang T; Xiao Y; Huang J; Cheng Y; Ou R; Liu K; Chen X; Song W; Zhao B; Wu Y; Cao B; Chen Y; Shang H
    Hum Genomics; 2022 Nov; 16(1):63. PubMed ID: 36451215
    [TBL] [Abstract][Full Text] [Related]  

  • 6. SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.
    Naruse H; Ishiura H; Esaki K; Mitsui J; Satake W; Greimel P; Shingai N; Machino Y; Kokubo Y; Hamaguchi H; Oda T; Ikkaku T; Yokota I; Takahashi Y; Suzuki Y; Matsukawa T; Goto J; Koh K; Takiyama Y; Morishita S; Yoshikawa T; Tsuji S; Toda T
    Ann Clin Transl Neurol; 2024 Apr; 11(4):946-957. PubMed ID: 38316966
    [TBL] [Abstract][Full Text] [Related]  

  • 7. SPTLC1 p.Leu38Arg, a novel mutation associated with childhood ALS.
    Lone MA; Zeng S; Bourquin F; Wang M; Huang S; Lin Z; Tang B; Zhang R; Hornemann T
    Biochim Biophys Acta Mol Cell Biol Lipids; 2023 Sep; 1868(9):159359. PubMed ID: 37348646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
    Mohassel P; Donkervoort S; Lone MA; Nalls M; Gable K; Gupta SD; Foley AR; Hu Y; Saute JAM; Moreira AL; Kok F; Introna A; Logroscino G; Grunseich C; Nickolls AR; Pourshafie N; Neuhaus SB; Saade D; Gangfuß A; Kölbel H; Piccus Z; Le Pichon CE; Fiorillo C; Ly CV; Töpf A; Brady L; Specht S; Zidell A; Pedro H; Mittelmann E; Thomas FP; Chao KR; Konersman CG; Cho MT; Brandt T; Straub V; Connolly AM; Schara U; Roos A; Tarnopolsky M; Höke A; Brown RH; Lee CH; Hornemann T; Dunn TM; Bönnemann CG
    Nat Med; 2021 Jul; 27(7):1197-1204. PubMed ID: 34059824
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins.
    Lone MA; Aaltonen MJ; Zidell A; Pedro HF; Morales Saute JA; Mathew S; Mohassel P; Bönnemann CG; Shoubridge EA; Hornemann T
    J Clin Invest; 2022 Sep; 132(18):. PubMed ID: 35900868
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical feature difference between juvenile amyotrophic lateral sclerosis with SPTLC1 and FUS mutations.
    Wang P; Wei Q; Li H; Wu ZY
    Chin Med J (Engl); 2023 Jan; 136(2):176-183. PubMed ID: 36801857
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A de novo c.113 T > C: p.L38R mutation of
    Liu X; He J; Yu W; Fan D
    Amyotroph Lateral Scler Frontotemporal Degener; 2022 Nov; 23(7-8):634-637. PubMed ID: 36204986
    [No Abstract]   [Full Text] [Related]  

  • 13. [Association between rare UBQLN2 variants and amyotrophic lateral sclerosis in Chinese population].
    Chen JY; Liu XY; Xu YS; Fan DS
    Zhonghua Yi Xue Za Zhi; 2021 Mar; 101(12):846-850. PubMed ID: 33789365
    [No Abstract]   [Full Text] [Related]  

  • 14. Rare, low-frequency and common coding variants of ARHGEF28 gene and their association with sporadic amyotrophic lateral sclerosis.
    Song Y; Lin F; Ye CH; Huang H; Li X; Yao X; Xu Y; Wang C
    Neurobiol Aging; 2020 Mar; 87():138.e1-138.e6. PubMed ID: 31060816
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Serine palmitoyl-CoA transferase (SPT) deficiency and sphingolipid levels in mice.
    Hojjati MR; Li Z; Jiang XC
    Biochim Biophys Acta; 2005 Oct; 1737(1):44-51. PubMed ID: 16216550
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases.
    Lone MA; Hülsmeier AJ; Saied EM; Karsai G; Arenz C; von Eckardstein A; Hornemann T
    Proc Natl Acad Sci U S A; 2020 Jul; 117(27):15591-15598. PubMed ID: 32576697
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Serine Palmitoyltransferase Subunit 3 and Metabolic Diseases.
    Lone MA; Bourquin F; Hornemann T
    Adv Exp Med Biol; 2022; 1372():47-56. PubMed ID: 35503173
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Rare variants of HSPB1 are probably associated with amyotrophic lateral sclerosis].
    Chen J; Liu X; Xu Y; Fan D
    Nan Fang Yi Ke Da Xue Xue Bao; 2021 Jan; 41(1):75-78. PubMed ID: 33509756
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Heterozygous
    Guissart C; De la Cruz E; Flabeau O; Grapperon AM; Corazza G; Junilhon L; Delmas JC; Millecamps S; Polge A; Amador MDM; Salachas F; Rochat J; Goizet C; Juntas Morales R; Lumbroso S; Philibert P; Cheillan D; Mouzat K
    J Neurol Neurosurg Psychiatry; 2024 Feb; 95(3):288-290. PubMed ID: 38041669
    [No Abstract]   [Full Text] [Related]  

  • 20. Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
    Li C; Lin J; Gu X; Hou Y; Liu K; Jiang Q; Ou R; Wei Q; Chen X; Song W; Zhao B; Wu Y; Chen Y; Shang H
    Mov Disord; 2022 Aug; 37(8):1756-1761. PubMed ID: 35642252
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.