Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1985 1
1992 1
1993 8
1994 2
1996 1
1997 2
1999 5
2000 3
2001 1
2002 1
2003 7
2004 4
2005 6
2006 8
2007 5
2008 7
2009 5
2010 10
2011 15
2012 9
2013 13
2014 9
2015 16
2016 22
2017 24
2018 29
2019 27
2020 40
2021 42
2022 44
2023 46
2024 21

Text availability

Article attribute

Article type

Publication date

Search Results

380 results

Results by year

Citations

1 article found by citation matching

Search results

Filters applied: . Clear all
Page 1
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). ...Clinical and electrophysiol …
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmiss …
CLCN2-Related Leukoencephalopathy.
Min R, Depienne C, Sedel F, Abbink TEM, van der Knaap MS. Min R, et al. 2015 Nov 5 [updated 2021 May 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2015 Nov 5 [updated 2021 May 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26539602 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual impairment from chorioretinopathy or optic atrophy, male infertility, and characteristic findings on brain MRI. ...DIAGNOSIS/TESTING: The dia
CLINICAL CHARACTERISTICS: CLCN2-related leukoencephalopathy is characterized by nonspecific neurologic findings, mild visual i
Characterizing genetic variants for clinical action.
Ramos EM, Din-Lovinescu C, Berg JS, Brooks LD, Duncanson A, Dunn M, Good P, Hubbard TJ, Jarvik GP, O'Donnell C, Sherry ST, Aronson N, Biesecker LG, Blumberg B, Calonge N, Colhoun HM, Epstein RS, Flicek P, Gordon ES, Green ED, Green RC, Hurles M, Kawamoto K, Knaus W, Ledbetter DH, Levy HP, Lyon E, Maglott D, McLeod HL, Rahman N, Randhawa G, Wicklund C, Manolio TA, Chisholm RL, Williams MS. Ramos EM, et al. Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):93-104. doi: 10.1002/ajmg.c.31386. Epub 2014 Mar 13. Am J Med Genet C Semin Med Genet. 2014. PMID: 24634402 Free PMC article.
As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for collecting and characterizing data on the clinical implications of variants, developing consensus on their actionability …
As the field of medicine begins to incorporate genome-scale analysis into clinical care, approaches need to be developed for c …
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).
Porto G, Brissot P, Swinkels DW, Zoller H, Kamarainen O, Patton S, Alonso I, Morris M, Keeney S. Porto G, et al. Eur J Hum Genet. 2016 Apr;24(4):479-95. doi: 10.1038/ejhg.2015.128. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153218 Free PMC article.
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk. The vast majority (typically >90%) of patients with clinically characterized HH are homozygous …
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected …
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which is involved in sphingolipid biosynthesis, are associated with …
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is …
PRICKLE1-Related Disorders.
Mastrangelo M, Caputi C, Esposito D, Leuzzi V. Mastrangelo M, et al. 2009 Sep 8 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 Sep 8 [updated 2022 Apr 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301774 Free Books & Documents. Review.
An individual with an autosomal dominant PRICKLE1-related disorder may have the disorder as the result of a de novo pathogenic variant or a pathogenic variant inherited from a parent. Each child of an individual with a heterozygous PRICKLE1 pathogenic variant
An individual with an autosomal dominant PRICKLE1-related disorder may have the disorder as the result of a de novo pathogenic variant
Gene variant effects across sodium channelopathies predict function and guide precision therapy.
Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E, Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S. Brunklaus A, et al. Brain. 2022 Dec 19;145(12):4275-4286. doi: 10.1093/brain/awac006. Brain. 2022. PMID: 35037686 Free PMC article.
We included missense variants that had been electrophysiologically characterized in mammalian cells in whole-cell patch-clamp recordings. ...Our findings suggest that biophysical characterisation of variants in one SCN-gene can predict channel function …
We included missense variants that had been electrophysiologically characterized in mammalian cells in whole-cell patch-clamp …
Stimulation of TREM2 with agonistic antibodies-an emerging therapeutic option for Alzheimer's disease.
Schlepckow K, Morenas-Rodríguez E, Hong S, Haass C. Schlepckow K, et al. Lancet Neurol. 2023 Nov;22(11):1048-1060. doi: 10.1016/S1474-4422(23)00247-8. Lancet Neurol. 2023. PMID: 37863592 Review.
One of the major risk genes for Alzheimer's disease is TREM2. Risk variants of TREM2 are loss-of-function mutations affecting chemotaxis, phagocytosis, lipid and energy metabolism, and survival and proliferation. Agonistic anti-TREM2 antibodies have been developed to boost …
One of the major risk genes for Alzheimer's disease is TREM2. Risk variants of TREM2 are loss-of-function mutations affecting chemota …
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
We evaluated a large cohort of patients (n = 25) with de novo pathogenic variants in DHDDS and provided the first systematic description of the clinical features and long-term outcome of this new neurodevelopmental and neurodegenerative disorder. ...Functional studi …
We evaluated a large cohort of patients (n = 25) with de novo pathogenic variants in DHDDS and provided the first systematic descript …
Association of biological sex with clinical outcomes and biomarkers of Alzheimer's disease in adults with Down syndrome.
Iulita MF, Bejanin A, Vilaplana E, Carmona-Iragui M, Benejam B, Videla L, Barroeta I, Fernández S, Altuna M, Pegueroles J, Montal V, Valldeneu S, Giménez S, González-Ortiz S, Torres S, El Bounasri El Bennadi S, Padilla C, Rozalem Aranha M, Estellés T, Illán-Gala I, Belbin O, Valle-Tamayo N, Camacho V, Blessing E, Osorio RS, Videla S, Lehmann S, Holland AJ, Zetterberg H, Blennow K, Alcolea D, Clarimón J, Zaman SH, Blesa R, Lleó A, Fortea J. Iulita MF, et al. Brain Commun. 2023 Mar 17;5(2):fcad074. doi: 10.1093/braincomms/fcad074. eCollection 2023. Brain Commun. 2023. PMID: 37056479 Free PMC article.
The study of sex differences in Alzheimer's disease is increasingly recognized as a key priority in research and clinical development. People with Down syndrome represent the largest population with a genetic link to Alzheimer's disease (>90% in the 7th decade). …
The study of sex differences in Alzheimer's disease is increasingly recognized as a key priority in research and clinical development …
380 results