| 1 |
Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. ( 29605618
)
|
Tian W.T....Cao L.
|
2018 |
| 2 |
Identification of a Novel Homozygous Splice-Site Mutation in <i>SCARB2</i> that Causes Progressive Myoclonus Epilepsy with or without Renal Failure. ( 29941711
)
|
He J....Chen W.J.
|
2018 |
| 3 |
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G&gt;A mutation in the MT-TW gene. ( 29625105
)
|
Cardaioli E....Dotti M.T.
|
2018 |
| 4 |
Astrocytes: new players in progressive myoclonus epilepsy of Lafora type. ( 29408991
)
|
|
2018 |
| 5 |
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders. ( 30500434
)
|
Mastrangelo M...Leuzzi V
|
2018 |
| 6 |
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391
)
|
Tonin R...Morrone A
|
2018 |
| 7 |
Corrigendum to "FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy" [Biochem. Biophys. Res. Commun. 474 (2) (2016) 321-327]. ( 30025895
)
|
Jain N...Ganesh S
|
2018 |
| 8 |
Nationwide survey in Japan endorsed diagnostic criteria of benign adult familial myoclonus epilepsy. ( 30053653
)
|
Kobayashi K...Ikeda A
|
2018 |
| 9 |
Falling After Starting Running in a Case of Myoclonus Epilepsy Associated with Ragged-red Fibers with a 8344A>G mtDNA Mutation. ( 29984755
)
|
Miyaue N...Nomoto M
|
2018 |
| 10 |
The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study. ( 28264719
)
|
van Egmond M.E....de Koning T.J.
|
2017 |
| 11 |
Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers. ( 29033892
)
|
Park S.Y....Lee Y.M.
|
2017 |
| 12 |
Gerstmann-Straussler-Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy. ( 29148226
)
|
Mumoli L...Gambardella A
|
2017 |
| 13 |
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. ( 28380698
)
|
Oliver KL...Berkovic SF
|
2017 |
| 14 |
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. ( 27368338
)
|
Henden L....Bahlo M.
|
2016 |
| 15 |
Progressive Myoclonus Epilepsy: The Gene-Empowered Era. ( 27694067
)
|
Minassian B.A....Avanzini G.
|
2016 |
| 16 |
Brain inflammation is accompanied by peripheral inflammation in Cstb (-/-) mice, a model for progressive myoclonus epilepsy. ( 27894304
)
|
Okuneva O....Lehesjoki A.E.
|
2016 |
| 17 |
GOSR2: a progressive myoclonus epilepsy gene. ( 27618868
)
|
Dibbens L.M....Rubboli G.
|
2016 |
| 18 |
KCTD7-related progressive myoclonus epilepsy. ( 27629772
)
|
Van Bogaert P.
|
2016 |
| 19 |
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). ( 27618835
)
|
Roussel B.D....Crowther D.C.
|
2016 |
| 20 |
Benign adult familial myoclonus epilepsy is a progressive disorder: no longer idiopathic generalized epilepsy. ( 26907167
)
|
Hitomi T....Ikeda A.
|
2016 |
| 21 |
FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy. ( 27107699
)
|
Jain N....Ganesh S.
|
2016 |
| 22 |
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis. ( 27618929
)
|
|
2016 |
| 23 |
Post-modern therapeutic approaches for progressive myoclonus epilepsy. ( 27630083
)
|
|
2016 |
| 24 |
Progressive myoclonus epilepsy associated with SACS gene mutations. ( 27433545
)
|
|
2016 |
| 25 |
Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. ( 27632409
)
|
|
2016 |
| 26 |
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations. ( 27629860
)
|
Nascimento FA...Andrade DM
|
2016 |
| 27 |
Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy. ( 25680286
)
|
RomA!-Mateo C....PallardA^ F.V.
|
2015 |
| 28 |
Impaired osteoclast homeostasis in the cystatin B-deficient mouse model of progressive myoclonus epilepsy. ( 28377970
)
|
Manninen O....Lehesjoki A.E.
|
2015 |
| 29 |
Somatosensory-evoked potential modulation by quadripulse transcranial magnetic stimulation in patients with benign myoclonus epilepsy. ( 26431618
)
|
Nakatani-Enomoto S....Ugawa Y.
|
2015 |
| 30 |
GSTA1, GSTM1, GSTP1 and GSTT1 polymorphisms in progressive myoclonus epilepsy: A Serbian case-control study. ( 26552558
)
|
Ercegovac M....Pljesa-Ercegovac M.
|
2015 |
| 31 |
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia. ( 25954030
)
|
Damiano J.A....Hildebrand M.S.
|
2015 |
| 32 |
Myoclonus, Epilepsy, and Ataxia Resulting From Potassium Channel Gene Mutation: Expanding the Spectrum Underlying Ramsay Hunt Syndrome. ( 30363511
)
|
Balint B...Bhatia KP
|
2015 |
| 33 |
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. ( 25327891
)
|
Okuneva O....Lehesjoki A.E.
|
2014 |
| 34 |
When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis? ( 25337734
)
|
Lorenzoni P.J....Werneck L.C.
|
2014 |
| 35 |
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. ( 25401298
)
|
Muona M....Lehesjoki A.E.
|
2014 |
| 36 |
Progressive myoclonus epilepsy in Down syndrome patients with dementia. ( 24893590
)
|
d'Orsi G....Specchio L.M.
|
2014 |
| 37 |
Linkage analysis and exome sequencing identify a novel mutation in KCTD7 in patients with progressive myoclonus epilepsy with ataxia. ( 25060828
)
|
|
2014 |
| 38 |
Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy. ( 24782409
)
|
|
2014 |
| 39 |
A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced I^-glucocerebrosidase activity. ( 24485911
)
|
|
2014 |
| 40 |
Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype. ( 24262466
)
|
Menon R.N....Nair M.
|
2013 |
| 41 |
Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy. ( 23601850
)
|
Zsurka G....Weber Y.G.
|
2013 |
| 42 |
Progressive myoclonus epilepsy. ( 23622396
)
|
Girard J.M....Minassian B.A.
|
2013 |
| 43 |
Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. ( 23659519
)
|
Fu Y.J....Takahashi H.
|
2013 |
| 44 |
Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome. ( 23138527
)
|
Karkheiran S....PaisA!n-Ruiz C.
|
2013 |
| 45 |
Hashimoto encephalopathy presenting as progressive myoclonus epilepsy syndrome. ( 22840275
)
|
Arya R....Chansoria M.
|
2013 |
| 46 |
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. ( 23449775
)
|
BoissAc Lomax L....Berkovic S.F.
|
2013 |
| 47 |
Insights in progressive myoclonus epilepsy: HSP70 promotes cystatin B polymerization. ( 24063889
)
|
Rispoli A....Melli M.
|
2013 |
| 48 |
TMS-EEG reveals impaired intracortical interactions and coherence in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). ( 23642573
)
|
Julkunen P....Mervaala E.
|
2013 |
| 49 |
A novel SCARB2 mutation causing late-onset progressive myoclonus epilepsy. ( 23325613
)
|
|
2013 |
| 50 |
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism. ( 23955123
)
|
|
2013 |
