Search Results - "Diana EPURE"

The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult-Insights from a Tertiary Centre for Rare Neurological Diseases by Lupu, Maria, Ioghen, Mihaela, Perjoc, Radu-Ștefan, Scarlat, Andra-Maria, Vladâcenco, Oana Aurelia, Roza, Eugenia, Epure, Diana Ana-Maria, Teleanu, Raluca Ioana, Severin, Emilia Maria

“…Progress in the field of muscular dystrophy (MD) using a multidisciplinary approach based on international standards of care has led to a significant increase…”
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Migrainous Headache and Gliotic Thalamic Lesion after Treated Neuroblastoma in Childhood by Nita, Smaranda Antonia, Teleanu, Raluca Ioana, Epure, Diana, Bajenaru, Ovidiu

“…Objective. This article aims to bring into attention the challenges of diagnosing a case of migraine in a child with a history of neuroblastoma and an…”
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ANTI-MUSK ANTIBODY POSITIVE MYASTHENIA GRAVIS WITH CHILDHOOD ONSET by Epure, Diana, Nita, Smaranda, Teleanu, Raluca Ioana

“…Myasthenic syndromes are acquired diseases which unite the impairment of neuromuscular transmission with associated muscle weakness, occasional positive…”
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LGI1 and CASPR2-related Morvan syndrome - diagnostic challenges in a pediatric case by Petrov, Elena Catalina, Epure, Diana Anamaria, Vladacenco, Oana Aurelia, Vasile, Daniela Dorina, Lupu, Maria, Roza, Eugenia, Teleanu, Raluca Ioana

“…Morvan syndrome is a rare immune-mediated pathology involving the central, peripheral and autonomic nervous systems. Although it was described in adults,…”
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Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures by Teleanu, Raluca Ioana, Sarman, Marlene Alexandra, Epure, Diana Anamaria, Matei, Margarita, Roşca, Ioana, Roza, Eugenia

“…Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism that is characterized by gain-of-function mutations in the gene, which…”
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Pediatric tumefactive multiple sclerosis - a challenging case by Nita, Smaranda, Epure, Diana, Sandu, Magdalena, Teleanu, Daniel, Teleanu, Raluca

“…Multiple sclerosis (MS) is an autoimmune inflammatory disease of the central nervous system which is often diagnosed in young adults. We present a case of…”
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Dejerine-Sottas syndrome with early onset in childhood by Epure, Diana, Geanta, Ana-Maria, Vasile, Daniela, Teleanu, Daniel, Teleanu, Raluca

“…Dejerine-Sottas syndrome (DSS) is a progressive hypertrophic interstitial neuropathy of childhood characterized by defects in the myelin structure, with motor…”
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Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features by Iruzubieta, Pablo, Damborenea, Alberto, Ioghen, Mihaela, Bajew, Simon, Fernandez-Torrón, Roberto, Töpf, Ana, Herrero-Reiriz, Álvaro, Epure, Diana, Vill, Katharina, Hernández-Laín, Aurelio, Manterola, María, Azkargorta, Mikel, Pikatza-Menoio, Oihane, Pérez-Fernandez, Laura, García-Puga, Mikel, Gaina, Gisela, Bastian, Alexandra, Streata, Ioana, Walter, Maggie C, Müller-Felber, Wolfgang, Thiele, Simone, Moragón, Saioa, Bastida-Lertxundi, Nerea, López-Cortajarena, Aitziber, Elortza, Felix, Gereñu, Gorka, Alonso-Martin, Sonia, Straub, Volker, de Sancho, David, Teleanu, Raluca, López de Munain, Adolfo, Blázquez, Lorea

“…Alterations in RNA-splicing are a molecular hallmark of several neurological diseases, including muscular dystrophies, where mutations in genes involved in RNA…”
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SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation by Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, Escande-Beillard, Nathalie

“…SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological…”
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P315Electrocardiographic changes in duchenne muscular dystrophy by Cavache, Alina, Zaharia, Diana, Teleanu, Raluca Ioana, Epure, Diana Anamaria, Vasile, Dana, Sandu, Magdalena, Ghiorghiu, Ioana Adriana, Plesca, Doina Anca

“…BackgroundDuchenne Muscular Dystrophy (DMD) is an X-linked disorder, the most common muscular dystrophy in children. It presents in early childhood and become…”
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P315 Electrocardiographic changes in duchenne muscular dystrophy by Cavache, Alina, Zaharia, Diana, Teleanu, Raluca Ioana, Epure, Diana Anamaria, Vasile, Dana, Sandu, Magdalena, Ghiorghiu, Ioana Adriana, Plesca, Doina Anca

“…BackgroundDuchenne Muscular Dystrophy (DMD) is an X-linked disorder, the most common muscular dystrophy in children. It presents in early childhood and become…”
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X-linked Lissencephaly: a Smooth Brain and a Rough Journey for a 15- Year-Old-Patient by Zaharia, Marius-Cristian, Epure, Diana Anamaria, Streata, Ioana, Teleanu, Raluca Ioana

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Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries by Selvatici, Rita, Rossi, Rachele, Fortunato, Fernanda, Trabanelli, Cecilia, Sifi, Yamina, Margutti, Alice, Neri, Marcella, Gualandi, Francesca, Szabò, Lena, Fekete, Balint, Angelova, Lyudmilla, Litvinenko, Ivan, Ivanov, Ivan, Vildan, Yurtsever, Iuhas, Oana Alexandra, Vintan, Mihaela, Burloiu, Carmen, Lacramioara, Butnariu, Visa, Gabriela, Epure, Diana, Rusu, Cristina, Vasile, Daniela, Sandu, Magdalena, Vlodavets, Dmitry, Mager, Monica, Kyriakides, Theodore, Delin, Sanja, Lehman, Ivan, Fureš, Jadranka Sekelj, Bojinova, Veneta, Militaru, Mariela, Guergueltcheva, Velina, Burnyte, Birute, Molnar, Maria Judith, Butoianu, Niculina, Bensemmane, Selma Dounia, Makri-Mokrane, Samira, Herczegfalvi, Agnes, Panzaru, Monica, Emandi, Adela Chirita, Lusakowska, Anna, Potulska-Chromik, Anna, Kostera-Pruszczyk, Anna, Shatillo, Andriy, Khelladi, Djawed Bouchenak, Dendane, Oussama, Fang, Mingyan, Lu, Zhiyuan, Ferlini, Alessandra

“…Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to dystrophin ( ) gene…”
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SUBCLINICAL HYPOTHYROIDISM AND VALPROIC ACID TREATMENT IN CHILDREN WITH EPILEPSY by Epure, Diana, Matei, Margarita, Nita, Smaranda, Sandu, Magda, Teleanu, Daniel, Teleanu, Raluca

“…There have been conflicting reports on the possible role of valproic acid treatment in children with epilepsy on the thyroid function, with some studies…”
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Pediatric Autoimmune Encephalitis: Practical Aspects by Ioghen, Mihaela Roxana, Epure, Diana Anamaria, Teleanu, Raluca Ioana

“…Autoimmune encephalitis is an inflammatory condition of the central nervous system that may involve a widely variable spectrum of clinical features. It can be…”
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SINDROMUL ANTIFOSFOLIPIDIC – CAUZĂ RARĂ DE STROKE LA COPIL by Raluca Teleanu, Smaranada Niţă, Diana Epure

“…Sindromul antifosfolipidic (SAF) reprezintă o boală autoimună multisistemică caracterizată prin apariţia unor tromboze arteriale sau venoase la nivelul…”
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The consequences of the Covid 19 pandemic on eating disorders by Epure, Loreta, Oprea, Cătălin, Ungureanu, Delia, Chiriță, Vasile, Chiriță, Roxana

“…The novel coronavirus has a great impact over mental health, individuals with eating disorders may be particularly affected by the distancing measures,…”
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Research and Science Today Supplement No. 1/2014 by Elena-Steluţa DINU, Elena - Roxana DOBRIŢOIU, Raul Constantin TĂNASE, Alina BUZĂIANU, Andreea Emilia DUȚĂ, Flavius-Cristian MĂRCĂU, Ion PANAIT, Paul DUȚĂ, Magda Simona SCUTARU, Nicolaie MĂNESCU, Dragoș DAVIȚOIU, Laura MANDA, Florin CHIRCULESCU, Diana EPURE, Mărgărita MATEI, Smaranda NIȚĂ, Magda SANDU, Daniel TELEANU, Raluca TELEANU

“…RESEARCH AND SCIENCE TODAY is a biannual science journal established in 2011. The journal is an informational platform that publishes assessment articles and…”
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Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures by Teleanu, Raluca Ioana, Sarman, Marlene Alexandra, Epure, Diana Anamaria, Matei, Margarita, Roşca, Ioana, Roza, Eugenia

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A case report of Morvan syndrome, the unique clinical pattern of a rare disease by Epure, D.A., Ioghen, M.R., Roza, E., Teleanu, R.I.

“…Morvan syndrome is a rare autoimmune disorder mediated by antibodies against voltage-gated potassium channels (VGKC) and characterized by the involvement of…”
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