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PubPharm (173)
1
Tuberous sclerosis complex in adulthood : focus on epilepsy prognosis
enthalten in:
Epilepsy & behavior : E&B
| 2024
von
Licchetta, L.
|
Bruschi, G.
|
Stipa, C.
| +10
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2
Management of seizures in patients with primary mitochondrial diseases : consensus statement from the InterERNs Mitochondrial Working Group
enthalten in:
European journal of neurology
| 2024
von
Mancuso, M.
|
Papadopoulou, M.
|
Ng, Y.
| +22
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3
Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy : A Study of 200 Patients
enthalten in:
Journal of clinical medicine
| 2024
von
Muccioli, L.
|
Bruschi, G.
|
Ferri, L.
| +9
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4
Clinical and molecular characterization of patients with YWHAG-related epilepsy
enthalten in:
Epilepsia
| 2024
von
Cetica, V.
|
Pisano, T.
|
Lesca, G.
| +63
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5
Fingerprick volumetric absorptive microsampling for therapeutic drug monitoring of antiseizure medications : Reliability and real-life feasibility in epilepsy patients
enthalten in:
Journal of pharmaceutical and biomedical analysis
| 2024
von
Cancellerini, C.
|
Belotti, L.
|
Mohamed, S.
| +9
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6
A Male Child with Infantile Epilepsy due to a Mosaic Missense Variant of PCDH19
enthalten in:
Molecular syndromology
| 2024
von
Parmeggiani, G.
|
Minardi, R.
|
Boni, A.
| +6
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7
Current management of primary mitochondrial disorders in EU countries : the European Reference Networks survey
enthalten in:
Journal of neurology
| 2024
von
Mancuso, M.
|
Lopriore, P.
|
Lamperti, C.
| +11
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8
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep
enthalten in:
Molecular genetics & genomic medicine
| 2024
von
Licchetta, L.
|
Di Giorgi, L.
|
Santucci, M.
| +5
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9
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep
enthalten in:
Molecular Genetics & Genomic Medicine
| 2024
von
Licchetta, L.
|
Di Giorgi, L.
|
Santucci, M.
| +5
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10
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey
enthalten in:
Journal of neurology
| 2023
von
Mancuso, M.
|
Lopriore, P.
|
Lamperti, C.
| +11
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Medienart
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Zeitschriftentitel
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Epilepsia
13
Sleep medicine
11
Neurology
11
Seizure
7
Orphanet journal of rare diseases
6
Annals of neurology
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Epilepsy & behavior : E&B
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Epileptic disorders : international epilepsy jo...
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Nature genetics
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Frontiers in neurology
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bioRxiv.org
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Current treatment options in neurology
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Epilepsy & behavior
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Epilepsy & behavior reports
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Thema
90
Journal Article
31
Research Support, Non-U.S. Gov't
18
Case Reports
15
Epilepsy
14
Anticonvulsants
13
epilepsy
9
Letter
9
Review
8
GTPase-Activating Proteins
7
DEPDC5 protein, human
7
EC 2.7.11.1
7
Progressive myoclonus epilepsy
6
DEPDC5
6
Repressor Proteins
6
nocturnal frontal lobe epilepsy
5
EPM2A
5
Mechanistic Target of Rapamycin Complex 1
5
NHLRC1
5
sleep-related hypermotor epilepsy
4
Comparative Study
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Erscheinungszeitraum
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2020-
100
2010-2019
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