Exploring the prevalence and profile of epilepsy across Europe using a standard retrospective chart review: Challenges and opportunities

Authors: Linehan, Christine, Benson, Ailbhe, Gunko, Alex, Christensen, Jakob, Sun, Yuelian, Tomson, Torbjorn, Marson, Anthony, Forsgren, Lars, Trinka, Eugen, Iliescu, Catrinel, Althoehn Sonderup, Julie, Werenberg Dreier, Julie, Sandu, Carmen, Leanca, Madalina, Rainer, Lucas, Kobulashvili, Teia, Granbichler, Claudia A., Delanty, Norman, Doherty, Colin, Staines, Anthony, Shahwan, Amre, Baker, Gus, Bolger, Eve, Jennum, Poul Jorgen, Ilescu, Catrinel, Malmgren, Kristina, Kjellberg, Jakob, Kerr, Michael, Covanis, Athanasios, Sales, Francisco, Mameniskiene, Ruta, Ekman, Mattias, Ryvlin, Philippe, Holmgaard, Marie Normark, Granbichler, Claudia

Source: Epilepsia. 62(11):2651-2666

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100139822630.0x000001&indx=1&recIds=ETOCvdc_100139822630.0x000001

CLINICAL AND GENETIC ASPECTS IN THE EHLERS DANLOS SYNDROME.

Alternate Title: ASPECTE CLINICE ŞI GENETICE ÎN CADRUL SINDROMULUI EHLERS DANLOS.

Authors: Shelby, Elena Silvia¹ silviajdx@yahoo.com, Leanca, Madalina Cristina¹, Hamei, Serban², Padure, Liliana^1,3, Mirea, Andrada^1,3

Source: Romanian Journal of Pediatrics / Revista Romana de Pediatrie. 2020, Vol. 69 Issue 4, p354-361. 8p.

Subject Terms: *GENETIC disorders, *BRUISES, *CONNECTIVE tissue diseases, *EHLERS-Danlos syndrome, *JOINT hypermobility, *MOTOR ability, *DIAGNOSIS

Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy.

Authors: Badina, Mihaela, Bejan, Gabriel Cristian, Sporea, Corina, Padure, Liliana, Mirea, Andrada, Leanca, Madalina-Cristina, Axente, Mihaela, Grigoras, Florin Petru, Bejan, Mihaela, Shelby, Elena-Silvia, Neagu, Elena, Ion, Daniela Adriana

Source: Medicina (1010660X); Jul2023, Vol. 59 Issue 7, p1244, 12p

Subject Terms: SPINAL muscular atrophy, CEREBROSPINAL fluid, INVERSE relationships (Mathematics)

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Tuft of white hair dissappearance in a TSC patient treated with everolimus for SEGA

Authors: Leanca, Madalina, Craiu, Dana

Source: In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e209-e209

Phenotypic manifestations of C5orf42 pathogenic variants.

Authors: Shelby, Elena-Silvia¹, Cocos, Relu², Leanca, Madalina Cristina¹, Mirea, Andrada^1,3 andrada.mirea@gmail.com, Barca, Diana⁴

Source: Romanian Journal of Pediatrics / Revista Romana de Pediatrie. 2022, Vol. 71 Issue 1, p39-46. 8p.

Subject Terms: *X-linked genetic disorders, *JOUBERT syndrome, *CYSTIC kidney disease, *OCULAR manifestations of general diseases, *SPEECH apraxia, *GENETIC counseling, *SPINOCEREBELLAR ataxia

IS THERE AN ENCEPHALOGRAPHIC TRAIT TO SEPTO-OPTIC DYSPLASIA? (DE MORSIER SYNDROME).

Authors: Tarta-Arsene, Oana¹, Leanca, Madalina¹, Gandea, Mona¹, Craiu, Dana¹

Source: Romanian Journal of Stomatology / Revista Romana de Stomatologie. 2014, Vol. 60 Issue 2, p75-80. 6p.

Subject Terms: *BRAIN, *RADIOGRAPHY, *DYSPLASIA, *VISION disorders, *PEDIATRIC neurology, *NYSTAGMUS

Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I.

Authors: Mirea, Andrada, Shelby, Elena-Silvia, Axente, Mihaela, Badina, Mihaela, Padure, Liliana, Leanca, Madalina, Dima, Vlad, Sporea, Corina

Source: Journal of Clinical Medicine; Dec2021, Vol. 10 Issue 23, p5540, 1p

Subject Terms: SPINAL muscular atrophy, RECESSIVE genes, NEUROMUSCULAR diseases, DISEASE progression, NATURAL history, MOTOR neurons

P6 - RESPIRATORY MANAGEMENT IN PATIENTS WITH RARE PROGRESSIVE NEUROMUSCULAR DISEASES.

Authors: MIREA, Andrada, ONOSE, Gelu, LEANCA, Madalina, GRIGORAS, Florin-Petru, AXENTE, Mihaela, PADURE, Liliana, SPOREA, Corina

Source: Balneo Research Journal; Sep2019, Vol. 10 Issue 3, p410-410, 1p

Subject Terms: NEUROMUSCULAR diseases, SPINAL muscular atrophy, MUSCLE hypotonia, RESPIRATORY muscles, RESPIRATORY insufficiency, HYPOVENTILATION

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1q44 microdeletion syndrome: A new case with potential additional features.

Authors: SHELBY, Elena-Silvia¹ silviajdx@yahoo.com, HUSEYINOGLU, Tanser², CARDOS, Georgeta², PADURE, Liliana^1,3, MIREA, Andrada^1,3, LEANCA, Madalina¹, BADINA, Mihaela¹, BARLADEANU, Nadejda⁴, NEDELEA, Florina Mihaela^2,4

Source: Romanian Journal of Medical Practice. 2021, Vol. 16 Issue 1, p92-96. 5p.

Subject Terms: *SYNDROMES, *DEVELOPMENTAL delay, *HUMAN abnormalities, *PHENOTYPES, *MUSCLE dysmorphia

New VOUS in CASK Gene Correlating with the MICPCH Phenotype.

Authors: Silvia SHELBY, Elena¹ silviajdx@yahoo.com, LUPU, Onda Tabita², AXENTE, Mihaela¹, LEANCA, Madalina Cristina¹, BADINA, Mihaela¹, PADURE, Liliana^1,2, MIREA, Andrada^1,2, PELTTARI, Liisa M.³

Source: Maedica - a Journal of Clinical Medicine. 2021, Vol. 16 Issue 1, p135-139. 5p.

Subject Terms: *FACIAL abnormalities, *PHENOTYPES, *GENETIC testing, *MEDICAL literature, *HUMAN genetic variation

ASPECTS OF EPILEPTIC SEIZURES IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1.

Authors: Tarta-Arsene, Oana¹, Barca, Diana¹, Burloiu, Carmen¹, Craiu, Dana¹, Stoian, Daniela¹, Leanca, Madalina¹, Magureanu, Sanda¹

Source: Romanian Journal of Neurology. 2013, Vol. 12 Issue 2, p63-69. 7p. 2 Black and White Photographs, 1 Diagram, 1 Chart.

Subject Terms: *CHILDHOOD epilepsy, *NEUROFIBROMATOSIS 1, *NEUROCUTANEOUS disorders, *MAGNETIC resonance imaging of the brain, *ELECTROENCEPHALOGRAPHY, *NEUROLOGICAL disorders