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Quoted phrase not found in phrase index: "Myoclonus, familial, 1"
Page 1
Parkinson's disease - genetic cause.
Cherian A, K P D, Vijayaraghavan A. Cherian A, et al. Curr Opin Neurol. 2023 Aug 1;36(4):292-301. doi: 10.1097/WCO.0000000000001167. Epub 2023 May 24. Curr Opin Neurol. 2023. PMID: 37366140 Review.
SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1) can cause genetic Parkinson's disease. Recessive DNAJC6 mutations can present predominantly as atypical parkinsonism, but also rarely as typical Parkinson's disease. ...The validation of novel genes …
SNCA, LRRK2, VPS35) or autosomal recessive genes (e.g. PRKN, PINK1, DJ-1) can cause genetic Parkinson's disease. Recessive DNAJC6 mut …
Movement disorders associated with neuronal antibodies: a data-driven approach.
Sturchio A, Dwivedi AK, Gastaldi M, Grimberg MB, Businaro P, Duque KR, Vizcarra JA, Abdelghany E, Balint B, Marsili L, Espay AJ. Sturchio A, et al. J Neurol. 2022 Jul;269(7):3511-3521. doi: 10.1007/s00415-021-10934-7. Epub 2022 Jan 13. J Neurol. 2022. PMID: 35024921 Free PMC article.
RESULTS: Three hundred and seventy-seven studies met eligibility criteria, totaling 844 patients and 13 antibodies: amphiphysin, GAD, GlyR, mGluR1, ANNA-2/Ri, Yo/PCA-1, Caspr2, NMDAR, LGI-1, CRMP5/CV2, ANNA-1/Hu, IgLON5, and DPPX. ...On neuroimaging, cerebell …
RESULTS: Three hundred and seventy-seven studies met eligibility criteria, totaling 844 patients and 13 antibodies: amphiphysin, GAD, GlyR, …
Comparison of clinical characteristics between familial and non-familial early onset Alzheimer's disease.
Karve SJ, Ringman JM, Lee AS, Juarez KO, Mendez MF. Karve SJ, et al. J Neurol. 2012 Oct;259(10):2182-8. doi: 10.1007/s00415-012-6481-y. Epub 2012 Mar 30. J Neurol. 2012. PMID: 22460587 Free PMC article.
Although familial Alzheimer's disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder. ...The PSEN1 patients, compared to the NF-EAD patients, had an earlier age of disease onset (41.8 5.2 vs. 55.9 4.8 years) and, at initial …
Although familial Alzheimer's disease (FAD) is an early onset AD (EAD), most patients with EAD do not have a familial disorder …
Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?
Wictorin K, Puschmann A. Wictorin K, et al. Neurol Neurochir Pol. 2020;54(1):3-5. doi: 10.5603/PJNNS.a2020.0013. Neurol Neurochir Pol. 2020. PMID: 32115676 Free article.
INTRODUCTION: Kaczynska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which two members had epilepsy. ...CLINICAL REFLECTIONS: Characteristic motor features of M-D include myoclonus, dystonia and tremor. A wid …
INTRODUCTION: Kaczynska et al. reported a family with myoclonus-dystonia (M-D) caused by a truncating SGCE mutation, in which …
Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies.
van der Veen S, Tse GTW, Ferretti A, Garone G, Post B, Specchio N, Fung VSC, Trivisano M, Scheffer IE. van der Veen S, et al. Neurology. 2023 Nov 7;101(19):e1884-e1892. doi: 10.1212/WNL.0000000000207808. Epub 2023 Sep 25. Neurology. 2023. PMID: 37748886
RESULTS: Our cohort comprised 77 patients with a genetic DEE with a median age of 9 (range 1-38) years. Stereotypies (37/77, 48%) and dystonia (34/77, 44%) were the most frequent MDs, followed by chorea (18/77, 23%), myoclonus (14/77, 18%), ataxia (9/77, 12%), tremo …
RESULTS: Our cohort comprised 77 patients with a genetic DEE with a median age of 9 (range 1-38) years. Stereotypies (37/77, 48%) and …
Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).
Tang M, Ryman DC, McDade E, Jasielec MS, Buckles VD, Cairns NJ, Fagan AM, Goate A, Marcus DS, Xiong C, Allegri RF, Chhatwal JP, Danek A, Farlow MR, Fox NC, Ghetti B, Graff-Radford NR, Laske C, Martins RN, Masters CL, Mayeux RP, Ringman JM, Rossor MN, Salloway SP, Schofield PR, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN). Tang M, et al. Lancet Neurol. 2016 Dec;15(13):1317-1325. doi: 10.1016/S1474-4422(16)30229-0. Epub 2016 Oct 21. Lancet Neurol. 2016. PMID: 27777020 Free PMC article. Review.
By constrast, prevalence was higher in the published data cohort for myoclonus and spasticity (19.4%, 16.6-22.2 and 15.0%, 12.5-17.6, respectively), parkinsonism (12.5%, 10.1-15.0), and seizures (20.3%, 17.4-23.2). In an analysis of the published data cohort, ischae …
By constrast, prevalence was higher in the published data cohort for myoclonus and spasticity (19.4%, 16.6-22.2 and 15.0%, 12.5-17.6, …
CSTB gene replacement improves neuroinflammation, neurodegeneration and ataxia in murine type 1 progressive myoclonus epilepsy.
Gumusgoz E, Kasiri S, Verma M, Wu J, Villarreal Acha D, Marriam U, Fyffe-Maricich S, Lin A, Chen X, Gray SJ, Minassian BA. Gumusgoz E, et al. Gene Ther. 2024 May;31(5-6):234-241. doi: 10.1038/s41434-023-00433-x. Epub 2023 Dec 22. Gene Ther. 2024. PMID: 38135787
EPM1 is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and disabling myoclonus, seizures, ataxia, psychiatric disease, and shortened lifespan. ...The data suggest that gene replacement is a promising ther …
EPM1 is the most common form of Progressive Myoclonus Epilepsy characterized by late-childhood onset, ever-worsening and disabling …
Treatment of benign epilepsy syndromes throughout life.
Willmore LJ. Willmore LJ. Epilepsia. 2001;42 Suppl 8:6-9. Epilepsia. 2001. PMID: 11902328 Free article. Review.
Some patients are not treated; many undergo brief administration of medication. Infantile convulsive seizures that may be partial or with myoclonus tend to be familial and require treatment for 1 or 2 years. ...Familial groupings of partial seizures in …
Some patients are not treated; many undergo brief administration of medication. Infantile convulsive seizures that may be partial or with …
Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.
Guerrini R, Carrozzo R, Rinaldi R, Bonanni P. Guerrini R, et al. Paediatr Drugs. 2003;5(10):647-61. doi: 10.2165/00148581-200305100-00001. Paediatr Drugs. 2003. PMID: 14510623 Review.
Twenty percent of patients have no detectable genetic abnormality. Rare cases of familial recurrence of AS show either imprinting center (IC) or UBE3A mutations. ...Piracetam may help in reducing distal myoclonus. Carbamazepine and vigabatrin may seriously aggravate …
Twenty percent of patients have no detectable genetic abnormality. Rare cases of familial recurrence of AS show either imprinting cen …
The neurophysiological features of myoclonus-dystonia and differentiation from other dystonias.
Popa T, Milani P, Richard A, Hubsch C, Brochard V, Tranchant C, Sadnicka A, Rothwell J, Vidailhet M, Meunier S, Roze E. Popa T, et al. JAMA Neurol. 2014 May;71(5):612-9. doi: 10.1001/jamaneurol.2014.99. JAMA Neurol. 2014. PMID: 24638021
IMPORTANCE: Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dystonia. ...The cerebellar functioning was evaluated with the number of conditioned responses during the 6 blocks of EBCC and 1 extinc …
IMPORTANCE: Myoclonus-dystonia (M-D) is a clinical syndrome characterized by a combination of myoclonic jerks and mild to moderate dy …
122 results