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

Year Number of Results
1981 1
1988 1
1992 1
1993 1
1994 1
1995 1
1997 1
1998 1
1999 1
2001 2
2002 2
2003 1
2009 2
2010 2
2011 1
2012 6
2016 2
2017 2
2018 1
2019 5
2020 4
2021 6
2022 5
2023 4
2024 0

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50 results

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Page 1
Genotype-Phenotype Correlations in Angelman Syndrome.
Yang L, Shu X, Mao S, Wang Y, Du X, Zou C. Yang L, et al. Genes (Basel). 2021 Jun 28;12(7):987. doi: 10.3390/genes12070987. Genes (Basel). 2021. PMID: 34203304 Free PMC article. Review.
AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxia, epilepsy, and distinct behavioral profile. ...Different genetic types may show different phenotypes in performance, seizure, b …
AS is characterized by global developmental delay, severe intellectual disability, lack of speech, happy disposition, ataxi …
Developments in the Treatment of Leber Hereditary Optic Neuropathy.
Chen BS, Yu-Wai-Man P, Newman NJ. Chen BS, et al. Curr Neurol Neurosci Rep. 2022 Dec;22(12):881-892. doi: 10.1007/s11910-022-01246-y. Epub 2022 Nov 21. Curr Neurol Neurosci Rep. 2022. PMID: 36414808 Free PMC article. Review.
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeutic delivery pipeline, exploring the mechanisms of action and evidence for these therapeutic approaches. ...Although approved treat …
PURPOSEOF REVIEW: To outline the current landscape of treatments for Leber hereditary optic neuropathy (LHON) along the therapeuti …
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
Wolff M, Brunklaus A, Zuberi SM. Wolff M, et al. Epilepsia. 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. Epilepsia. 2019. PMID: 31904126 Review.
There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epilepsy or with rare seizures in later childhood. ...Some missense, gain of function variants tend to present in early infancy with epil …
There is increasing evidence that an important phenotype linked to the gene is autism and intellectual disability without epil …
Treatment With Erythropoietin for Patients With Optic Neuritis: Long-term Follow-up.
Küchlin S, Ihorst G, Grotejohann B, Beisse F, Heinrich SP, Albrecht P, Ungewiss J, Wörner M, Hug MJ, Wolf S, Diem R, Lagrèze WA; TONE Study Group. Küchlin S, et al. Neurol Neuroimmunol Neuroinflamm. 2023 Apr 24;10(4):e200067. doi: 10.1212/NXI.0000000000200067. Print 2023 Jul. Neurol Neuroimmunol Neuroinflamm. 2023. PMID: 37094997 Free PMC article.
We assessed its long-term safety and efficacy as an adjunct to methylprednisolone in patients with optic neuritis and focused on conversions to multiple sclerosis (MS). ...The adjusted treatment difference of peripapillary retinal nerve fiber layer atrophy in relati …
We assessed its long-term safety and efficacy as an adjunct to methylprednisolone in patients with optic neuritis and focused on conv …
From genotype to phenotype in Dravet disease.
Gataullina S, Dulac O. Gataullina S, et al. Seizure. 2017 Jan;44:58-64. doi: 10.1016/j.seizure.2016.10.014. Epub 2016 Oct 21. Seizure. 2017. PMID: 27817982 Free article. Review.
Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. ...Generalized tonic-clonic and tonic seizures in sleep predominate in adulthood. Non epileptic manifestations appear with age, including intel …
Long-lasting febrile seizures are frequent in infancy and repeat status epilepticus (SE) has negative prognostic value. ...Generalize …
Treatment of hereditary optic neuropathies.
Newman NJ. Newman NJ. Nat Rev Neurol. 2012 Oct;8(10):545-56. doi: 10.1038/nrneurol.2012.167. Epub 2012 Sep 4. Nat Rev Neurol. 2012. PMID: 22945544 Review.
Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic atrophy, or part of a multisystem disorder. ...Lessons learned from treatment of the hereditary optic neuropathies may have …
Optic neuropathy may be primarily an isolated finding, such as in Leber hereditary optic neuropathy and dominant optic …
Current and Emerging Treatment Modalities for Leber's Hereditary Optic Neuropathy: A Review of the Literature.
Theodorou-Kanakari A, Karampitianis S, Karageorgou V, Kampourelli E, Kapasakis E, Theodossiadis P, Chatziralli I. Theodorou-Kanakari A, et al. Adv Ther. 2018 Oct;35(10):1510-1518. doi: 10.1007/s12325-018-0776-z. Epub 2018 Sep 1. Adv Ther. 2018. PMID: 30173326 Free PMC article. Review.
INTRODUCTION: The purpose of this review is to present the current and emerging treatment alternatives for Leber's hereditary optic neuropathy (LHON), emphasizing the most recent use of idebenone and stem cells or gene therapy. ...RESULTS: Treatment modalities for L …
INTRODUCTION: The purpose of this review is to present the current and emerging treatment alternatives for Leber's hereditary optic n …
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Ehtesham N, Mosallaei M, Beheshtian M, Khoshbakht S, Fadaee M, Vazehan R, Faraji Zonooz M, Karimzadeh P, Kahrizi K, Najmabadi H. Ehtesham N, et al. Arch Iran Med. 2022 Dec 1;25(12):788-797. doi: 10.34172/aim.2022.124. Arch Iran Med. 2022. PMID: 37543906 Free PMC article.
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS …
METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellec …
Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes.
Gardella E, Møller RS. Gardella E, et al. Epilepsia. 2019 Dec;60 Suppl 3:S77-S85. doi: 10.1111/epi.16319. Epilepsia. 2019. PMID: 31904124
Electroencephalograms (EEGs) show progressive background deterioration and multifocal abnormalities, predominant in the posterior regions. (2) Sporadic and familial patients with mild-to-moderate intellectual disability, discrete neurological signs, and treatable ep …
Electroencephalograms (EEGs) show progressive background deterioration and multifocal abnormalities, predominant in the posterior regions. ( …
Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype-phenotype correlation analysis.
Han J, Li Y, You Y, Fan K, Lei B. Han J, et al. BMC Ophthalmol. 2022 Jul 26;22(1):322. doi: 10.1186/s12886-022-02546-0. BMC Ophthalmol. 2022. PMID: 35883160 Free PMC article.
PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autosomal dominant optic atrophy (ADOA) and define the phenotype-genotype correlations. ...RESULTS: Nineteen patients from the eleve …
PURPOSE: To describe the genetic and clinical features of nineteen patients from eleven unrelated Chinese pedigrees with OPA1-related autoso …
50 results