PubMed for id: 1794216

Save citations to file

Email citations

Subject: PubMed for id: 1794216 - PubMed

To:

From:

Selection:

Format:

MeSH and other data

Add to Collections

Add to My Bibliography

Your saved search

Name of saved search:

Search terms:

22572546,37963879,37958557,37947886,37946310,37946245,37946214,37929438,37924129,37920250,37919037,37906855,37902337,37895210,37895044,37887313,37884190,37880726,37880614,37868296,37862092,37856674,37853548,37850918,37840187,37834093,37834053,37833937,37833681,37830910,37821582,37820941,37820708,37812884,37811569,37803114,37802085,37797428,37783441,37782669,37777961,37776663,37772684,37761828,37759798,37759796,37759260,37749503,37748886,37744344,37743183,37741152,37740653,37733961,37731249,37729800,37729723,37723282,37717460,37714116,37712293,37708665,37706497,37705408,37704057,37702369,37702321,37698934,37697770,37689673,37684638,37682427,37675463,37672097,37668873,37668235,37659319,37657306,37655421,37653173,37652706,37647829,37644805,37644171,37643962,37643892,37642681,37641121,37635087,37633739,37629066,37628996,37628781,37628658,37628590,37628589,37626185,37622532,37621218,37607817,37606181,37598353,37597255,37596007,37591201,37589085,37580898,37580162,37577282,37574439,37574199,37573956,37572851,37572437,37569695,37568198,37562887,37562170,37555408,37551713,37550174,37549465,37543906,37543852,37542971,37540927,37540408,37537625,37536979,37532502,37531097,37529938,37528014,37527678,37523899,37523795,37510348,37510312,37510258,37507849,37503918,37503580,37501613,37488489,37487754,37484962,37483062,37482941,37482377,37479950,37477790,37474567,37471090,37470575,37469072,37467773,37467014,37465909,37464858,37464223,37463203,37460232,37459438,37458987,37457714,37453880,37453291,37452934,37452008,37451886,37451268,37451178,37446113,37443020,37441820,37440674,37440383,37434477,37434390,37429835,37429183,37428632,37422919,37422633,37421173,37420260,37417335,37414287,37413779,37409636,37407264,37407261,37403762,37399212,37393059,37390816,37390664,37385007,37381921,37376966,37374360,37373384,37372360,37372334,37371086,37368068,37366350,37366229,37366140,37365508,37364240,37357910,37356182,37355705,37353999,37352690,37349768,37344571,37344172,37341859,37341588,37340991,37340906,37339871,37337918,37336273,37335529,37334838,37333770,37331110,37329878,37329181,37329172,37328088,37327298,37321992,37318409,37317634,37315408,37313861,37302990,37294011,37290938,37289981,37288657,37286031,37280710,37280192,37276801,37272175,37271660,37271069,37268865,37268752,37268684,37268172,37264783,37264615,37263295,37259768,37259148,37258131,37245274,37240249,37239476,37230012,37226416,37225406,37221696,37216541,37212043,37212016,37212000,37211757,37210930,37209718,37209379,37209156,37209046,37208785,37204304,37204045,37203213,37198960,37197784,37195340,37193986,37193687,37192002,37190109,37188825,37188671,37187015,37185787,37185208,37183800,37183190,37176165,37175835,37171678,37170141,37170076,37167844,37165955,37163579,37161035,37158562,37157232,37156729,37147463,37146791,37145017,37144988,37144591,37142655,37142567,37142513,37142076,37133759,37131084,37130971,37129290,37125481,37122072,37121082,37119372,37116011,37114835,37111157,37108212,37104042,37100731,37099824,37099548,37096745,37096373,37096266,37095367,37092538,37092460,37092337,37088336,37088055,37086568,37084674,37080934,37078284,37078131,37075791,37075569,37071726,37071297,37070548,37070482,37069177,37067582,37067065,37061734,37059210,37054988,37053181,37046037,37043471,37043428,37042760,37039969,37039534,37037125,37031571,37030608,37029775,37029735,37029201,37026922,37024553,37021642,37019838,37017800,37015817,37014259,37014252,37013901,37011526,37010587,37010102,37005340,37004908,37003255,37001612,36999555,36997679,36997128,36995941,36994644,36994516,36992562,36990366,36990055,36989566,36987741,36982949,36982627,36980825,36980813,36979350,36977636,36973520,36973076,36967423,36967043,36966012,36965413,36951102,36948217,36947106,36946511,36946251,36945313,36941269,36941261,36939723,36939707,36935580,36935482,36935417,36934445,36934385,36934089,36932231,36931189,36929812,36918063,36916904,36916865,36916363,36913149,36912749,36905087,36902414,36901699,36899857,36896643,36894761,36894627,36894540,36892712,36892159,36890671,36890565,36889623,36882827,36880595,36880414,36878222,36877775,36871873,36868483,36866635,36863504,36856752,36854412,36854409,36853909,36852703,36849973,36849632,36849527,36849228,36843332,36835631,36835400,36835332,36835207,36833359,36833327,36833293,36833176,36825897,36820836,36820543,36813574,36813567,36813321,36812896,36812861,36810721,36808730,36808635,36808153,36807083,36806000,36800618,36797464,36796465,36793218,36791567,36791482,36787709,36779245,36775847[uid]

Test search terms

Would you like email updates of new search results?

Email: (change)

Frequency:

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Results by year

Year	Number of Results
2012	1
2022	5
2023	492
2024	3

500 results

Page of 50

Results by year

Page 1

Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.

Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group. Patterson MC, et al. Mol Genet Metab. 2012 Jul;106(3):330-44. doi: 10.1016/j.ymgme.2012.03.012. Epub 2012 May 8. Mol Genet Metab. 2012. PMID: 22572546

Targeted suppression of mTORC2 reduces seizures across models of epilepsy.

Okoh J, Mays J, Bacq A, Oses-Prieto JA, Tyanova S, Chen CJ, Imanbeyev K, Doladilhe M, Zhou H, Jafar-Nejad P, Burlingame A, Noebels J, Baulac S, Costa-Mattioli M. Okoh J, et al. Nat Commun. 2023 Nov 14;14(1):7364. doi: 10.1038/s41467-023-42922-y. Nat Commun. 2023. PMID: 37963879 Free PMC article.

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

Shatokhina O, Kovalskaia V, Sparber P, Sharkova I, Mishina I, Kuznetsova V, Ryzhkova O. Shatokhina O, et al. Int J Mol Sci. 2023 Oct 25;24(21):15572. doi: 10.3390/ijms242115572. Int J Mol Sci. 2023. PMID: 37958557 Free PMC article.

Low glycemic index diet restrains epileptogenesis in a gender-specific fashion.

Michetti C, Ferrante D, Parisi B, Ciano L, Prestigio C, Casagrande S, Martinoia S, Terranova F, Millo E, Valente P, Giovedi' S, Benfenati F, Baldelli P. Michetti C, et al. Cell Mol Life Sci. 2023 Nov 10;80(12):356. doi: 10.1007/s00018-023-04988-1. Cell Mol Life Sci. 2023. PMID: 37947886 Free PMC article.

Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.

Honke J, Hoffmann L, Coras R, Kobow K, Leu C, Pieper T, Hartlieb T, Bien CG, Woermann F, Cloppenborg T, Kalbhenn T, Gaballa A, Hamer H, Brandner S, Rössler K, Dörfler A, Rampp S, Lemke JR, Baldassari S, Baulac S, Lal D, Nürnberg P, Blümcke I. Honke J, et al. Acta Neuropathol Commun. 2023 Nov 9;11(1):179. doi: 10.1186/s40478-023-01675-x. Acta Neuropathol Commun. 2023. PMID: 37946310 Free PMC article.

A single-center observational study on long-term neurodevelopmental outcomes in children with tuberous sclerosis complex.

Mammadova D, Vecko J, Hofmann M, Schüssler SC, Deiters L, Canda A, Wieland AK, Gollwitzer S, Hamer H, Trollmann R. Mammadova D, et al. Orphanet J Rare Dis. 2023 Nov 9;18(1):349. doi: 10.1186/s13023-023-02959-0. Orphanet J Rare Dis. 2023. PMID: 37946245 Free PMC article.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Yang H, Huang J, Zheng H, Zhang Y, Zhang Y, Liu W, Wu J, Chen X, Lin J, Ni Y, Nie X. Yang H, et al. BMC Med Genomics. 2023 Nov 9;16(1):282. doi: 10.1186/s12920-023-01723-4. BMC Med Genomics. 2023. PMID: 37946214 Free PMC article.

A Novel Neuroimaging Phenotype in the X-Linked Intellectual Disability with a Missense Mutation of CNKSR2 Gene.

Hosur B, Sinha R, Jain NK, Muthanna BA, Bansal V, Singh S, Kamila G. Hosur B, et al. Neurol India. 2023 Sep-Oct;71(5):980-983. doi: 10.4103/0028-3886.388124. Neurol India. 2023. PMID: 37929438

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.

Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, Al Mamari W, Al-Murshedi F, Al-Jasmi F. Al Busaidi M, et al. Orphanet J Rare Dis. 2023 Nov 3;18(1):344. doi: 10.1186/s13023-023-02946-5. Orphanet J Rare Dis. 2023. PMID: 37924129 Free PMC article.

Case Report: Osteosclerotic metaphyseal dysplasia with optic nerve involvement and progressive osteonecrosis of the jaw due to a novel LRRK1 mutation.

Pieridou C, Sabir A, Lancashire J, Liang Y, McMillan K, Shaw N, Uday S. Pieridou C, et al. Front Endocrinol (Lausanne). 2023 Oct 18;14:1258340. doi: 10.3389/fendo.2023.1258340. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37920250 Free PMC article.

500 results

Page of 50

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

500 results

Results by year