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Quoted phrase not found in phrase index: "Familial dyskinesia and facial myokymia"
Page 1
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, Al-Ali R, Karageorgou V, Moldovan O, Dias P, Alhashem A, Tabarki B, Albalwi MA, Alswaid AF, Al-Hassnan ZN, Alghamdi MA, Hadipour Z, Hadipour F, Al Hashmi N, Al-Gazali L, Cheema H, Zaki MS, Hüning I, Alfares A, Eyaid W, Al Mutairi F, Alfadhel M, Alkuraya FS, Al-Sannaa NA, AlShamsi AM, Ameziane N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Genet Med. 2021 Aug;23(8):1551-1568. doi: 10.1038/s41436-021-01159-0. Epub 2021 Apr 19. Genet Med. 2021. PMID: 33875846 Free PMC article.
The phenotypes included syndromic/nonsyndromic NDD/ID, oral-facial-digital syndrome, cardiomyopathies, malformation syndrome, short stature, skeletal dysplasia, and ciliary dyskinesia. ...Genetic laboratories should be encouraged to pursue such analyses for the bene …
The phenotypes included syndromic/nonsyndromic NDD/ID, oral-facial-digital syndrome, cardiomyopathies, malformation syndrome, short s …
Phenotypic insights into ADCY5-associated disease.
Chang FC, Westenberger A, Dale RC, Smith M, Pall HS, Perez-Dueñas B, Grattan-Smith P, Ouvrier RA, Mahant N, Hanna BC, Hunter M, Lawson JA, Max C, Sachdev R, Meyer E, Crimmins D, Pryor D, Morris JG, Münchau A, Grozeva D, Carss KJ, Raymond L, Kurian MA, Klein C, Fung VS. Chang FC, et al. Mov Disord. 2016 Jul;31(7):1033-40. doi: 10.1002/mds.26598. Epub 2016 Apr 8. Mov Disord. 2016. PMID: 27061943 Free PMC article.
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea and dystonia; autosomal-dominant chorea and dystonia; and benign hereditary chorea. ...We describe mi …
BACKGROUND: Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial …
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. Chen YZ, et al. Ann Neurol. 2014 Apr;75(4):542-9. doi: 10.1002/ana.24119. Epub 2014 Mar 13. Ann Neurol. 2014. PMID: 24700542 Free PMC article.
OBJECTIVE: To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dom …
OBJECTIVE: To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases a …
ADCY5 mutations are another cause of benign hereditary chorea.
Mencacci NE, Erro R, Wiethoff S, Hersheson J, Ryten M, Balint B, Ganos C, Stamelou M, Quinn N, Houlden H, Wood NW, Bhatia KP. Mencacci NE, et al. Neurology. 2015 Jul 7;85(1):80-8. doi: 10.1212/WNL.0000000000001720. Epub 2015 Jun 17. Neurology. 2015. PMID: 26085604 Free PMC article.
CONCLUSIONS: Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial myokymia, as a cause of familial and sporadic BHC. ADCY5 genetic analysis should be performed in cases with a benign choreiform m …
CONCLUSIONS: Our study identifies mutations in ADCY5, the gene previously linked to familial dyskinesia with facial …
The neurology and natural history of patients with indeterminate CAG repeat length mutations of the Huntington disease gene.
Panegyres PK, Goh JG. Panegyres PK, et al. J Neurol Sci. 2011 Feb 15;301(1-2):14-20. doi: 10.1016/j.jns.2010.11.015. Epub 2010 Dec 13. J Neurol Sci. 2011. PMID: 21147489
Data from clinical histories, neurological examinations, the United Huntington's Disease Rating Scale (UHDRS) and MRI imaging were collected. RESULTS: Four patients developed facial chorea, ataxia, impaired tongue protrusion, abnormal saccades and intermittent eye pursuits …
Data from clinical histories, neurological examinations, the United Huntington's Disease Rating Scale (UHDRS) and MRI imaging were collected …
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. Carapito R, et al. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Mov Disord. 2015. PMID: 25545163
Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia. OBSERVATIONS: Whole exome sequencing in a three-generation family affected with autosomal dominant chorea associated with dystonia identified a single de novo muta …
Here we identify adenylate cyclase 5 (ADCY5) as a likely new causal gene for early-onset chorea and dystonia. OBSERVATIONS: Whole exome sequ …
Case of infantile onset spinocerebellar ataxia type 5.
Jacob FD, Ho ES, Martinez-Ojeda M, Darras BT, Khwaja OS. Jacob FD, et al. J Child Neurol. 2013 Oct;28(10):1292-5. doi: 10.1177/0883073812454331. Epub 2012 Aug 21. J Child Neurol. 2013. PMID: 22914369
Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving beta-III spectrin (SPTBN2), has been described in 3 families. It typically consists of a slowly progressive spinocerebellar ataxia with onset in the third decade. The autho …
Spinocerebellar ataxia type 5, a dominant spinocerebellar ataxia associated with mutations involving beta-III spectrin (SPTBN2), has been de …
A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
Armstrong L, Tarailo-Graovac M, Sinclair G, Seath KI, Wasserman WW, Ross CJ, van Karnebeek CD. Armstrong L, et al. Am J Med Genet A. 2017 Mar;173(3):712-715. doi: 10.1002/ajmg.a.37621. Am J Med Genet A. 2017. PMID: 28211985
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in t …
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on t …
The relationship between trinucleotide repeat length and phenotypic variation in Machado-Joseph disease.
Matsumura R, Takayanagi T, Fujimoto Y, Murata K, Mano Y, Horikawa H, Chuma T. Matsumura R, et al. J Neurol Sci. 1996 Jul;139(1):52-7. J Neurol Sci. 1996. PMID: 8836972
Group 1 and group 2 had common features of spasticity, hyperreflexia, Babinski sign, bulging eyes, facial myokymia and extrapyramidal signs as well as cerebellar ataxia and ophthalmoplegia. ...DNA analysis for the MJD mutation was clearly useful for making an accura …
Group 1 and group 2 had common features of spasticity, hyperreflexia, Babinski sign, bulging eyes, facial myokymia and extrapy …
Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family.
Takiyama Y, Shimazaki H, Morita M, Soutome M, Sakoe K, Esumi E, Muramatsu S, Yoshida M, Igarashi S, Tanaka H, Tsuji S, Sasaki H, Wakisaka A, Nakano I, Nishizawa M. Takiyama Y, et al. J Neurol Sci. 1998 Mar 5;155(2):141-5. doi: 10.1016/s0022-510x(98)00012-4. J Neurol Sci. 1998. PMID: 9562258
We studied the relationship between the number of CAG repeat units in the MJD1 gene and clinical features of Machado-Joseph disease (MJD) in eight patients from two generations of a Japanese MJD family. Because of lack of characteristic clinical signs of MJD such as dyston …
We studied the relationship between the number of CAG repeat units in the MJD1 gene and clinical features of Machado-Joseph disease (MJD) in …