Identification of a novel LAMA2 c.2217G > A, p.(Trp739) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber

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Diagnostic accuracy of the lactate stress test for detecting mitochondrial disorders: Systematic review and meta-analysis by El Guessabi, Sara, Abouqal, Redouane, Ibrahimi, Azeddine, Zouiri, Ghizlane, Sfifou, Fatima, Finsterer, Josef, Kriouile, Yamna

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First characterization of congenital myasthenic syndrome type 5 in North Africa by Khaoula, Rochdi, Cerino, Mathieu, Da Silva, Nathalie, Delague, Valerie, Nahili, Halima, Kriouile, Yamna, Gorokhova, Svetlana, Bartoli, Marc, Saïle, Rachid, Barakat, Abdelhamid, Krahn, Martin

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Medicines Acceptability in Hospitalized Children: An Ongoing Need for Age-Appropriate Formulations by Vallet, Thibault, Elhamdaoui, Omar, Berraho, Amina, Cherkaoui, Lalla Ouafae, Kriouile, Yamna, Mahraoui, Chafiq, Mouane, Nezha, Pense-Lheritier, Anne-Marie, Ruiz, Fabrice, Bensouda, Yahya

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Anti-N-methyl-D-aspartate receptor encephalitis in children: a case report by Rhouda, Hajar, Abboudi, Khadija, Kriouile, Yamna

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Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study by Curado, Filipa, Rösner, Sabine, Zielke, Susanne, Westphal, Gina, Grittner, Ulrike, Skrahina, Volha, Alasel, Mohammed, Malik, Ahmad Mehmood, Beetz, Christian, Böttcher, Tobias, Barel, Gal, Sah, Ashish Prasad, Dinur, Tama, Anjum, Nadeem, Ichraf, Quidad, Kriouile, Yamna, Hadipour, Zahra, Hadipour, Fatemeh, Revel-Vilk, Shoshana, Cozma, Claudia, Hartkamp, Jörg, Cheema, Huma, Zimran, Ari, Bauer, Peter, Rolfs, Arndt

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c.754T>A homozygous mutation described for the first time in three Moroccan patients with Gaucher disease by Zouiri, Ghizlane, Rhouda, Hajar, Kriouile, Yamna

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Mésusage traditionnel du camphre: un danger oublié pour les enfants (à propos de 2 cas) by Naoual, Nchinech, Elgharbi Afaf, Aglili Fatima Zahra, Yamna, Kriouile, Cherrah Yahia, Mdaghri, Asmaa Aaloui, Serragui Samira

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Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants by Amllal, Nada, Lyahyai, Jaber, Afif, Lamiae, Kriouile, Yamna, Sefiani, Abdelaziz, Elalaoui, Siham Chafai

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Pathologic Confirmation of Lafora Disease by Rhouda, Hajar, Malihy, Abderrahmane, Zouiri, Ghizlane, Kriouile, Yamna

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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders by Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry

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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment by Salpietro, Vincenzo, Malintan, Nancy T., Llano-Rivas, Isabel, Spaeth, Christine G., Efthymiou, Stephanie, Striano, Pasquale, Vandrovcova, Jana, Cutrupi, Maria C., Chimenz, Roberto, David, Emanuele, Di Rosa, Gabriella, Marce-Grau, Anna, Raspall-Chaure, Miquel, Martin-Hernandez, Elena, Zara, Federico, Minetti, Carlo, Salpietro, Vincenzo, Efthymiou, Stephanie, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Karashova, Blagovesta, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, Di Rosa, Gabriella, Pironti, Erica, Goraya, Jatinder S., Sultan, Tipu, Kirmani, Salman, Ibrahim, Shahnaz, Jan, Farida, Mine, Jun, Banu, Selina, Veggiotti, Pierangelo, Ferrari, Michel D., Verrotti, Alberto, Marseglia, Gian Luigi, Savasta, Salvatore, Garavaglia, Barbara, Scuderi, Carmela, Borgione, Eugenia, Dipasquale, Valeria, Cutrupi, Maria Concetta, Portaro, Simona, Sanchez, Benigno Monteagudo, Pineda-Marfa’, Mercedes, Munell, Francina, Macaya, Alfons, Boles, Richard, Heimer, Gali, Papacostas, Savvas, Manole, Andreea, Malintan, Nancy, Zanetti, Maria Natalia, Hanna, Michael G., Rothman, James E., Kullmann, Dimitri M., Houlden, Henry, Bello, Oscar D., De Zorzi, Rita, Fortuna, Sara, Dauber, Andrew, Alkhawaja, Mariam, Sultan, Tipu, Mankad, Kshitij, Vitobello, Antonio, Thomas, Quentin, Mau-Them, Frederic Tran, Faivre, Laurence, Martinez-Azorin, Francisco, Prada, Carlos E., Macaya, Alfons, Kullmann, Dimitri M., Rothman, James E., Krishnakumar, Shyam S., Houlden, Henry

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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation by Chelban, Viorica, Wilson, Matthew P., Warman Chardon, Jodi, Vandrovcova, Jana, Zamba‐Papanicolaou, Eleni, Pope, Simon, Conte, Maria R., Abis, Giancarlo, Liu, Yo‐Tsen, Tribollet, Eloise, Haridy, Nourelhoda A., Botía, Juan A., Ryten, Mina, Nicolaou, Paschalis, Minaidou, Anna, Kernohan, Kristin D., Eaton, Alison, Bello, Oscar, Bremner, Fion, Cordivari, Carla, Reilly, Mary M., Foiani, Martha, Zetterberg, Henrik, Heales, Simon J. R., Rothman, James E., Clayton, Peter T., Houlden, Henry, Kriouile, Yamna, Aguennouz, Mhammed, Groppa, Stanislav, Marinova Karashova, Blagovesta, Van Maldergem, Lionel, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez‐Dueñas, Belen, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Pineda‐Marfa, Mercedes, Ferrari, Michel D., van den Maagdenberg, Arn M J M, Verrotti, Alberto, Marseglia, Giangluigi, García‐Silva, Mayte, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Boles, Richard, Giunti, Paola, Chelban, Viorica, Salpietro, Vincenzo, Efthymiou, Stephanie, Kullmann, Dimitri, Kaiyrzhanov, Rauan, Sullivan, Roisin, Khan, Alaa Matooq, Yau, Wai Yan, Papanicolaou, Eleni Zamba, Maqbool, Shazia, Rana, Nuzhat Noureen, Atawneh, Osama, Shaikh, Farooq, Koutsis, George, Breza, Marianthi, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Stojkovic, Tanya, Torti, Erin, Zollo, Massimi, Dauvilliers, Yves A., Rizig, Mie, Okubadejo, Njideka U., Ojo, Oluwadamilola O., Wahab, Kolawole, Bello, Abiodun H., Obiabo, Yahaya, Nwazor, Ernest, Iyagba, Alagoma, Taiwo, Lolade, Komolafe, Morenikeji, Oguntunde, Olapeju, Senkevich, Konstantin, Haridy, Nourelhoda, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Isrofilov, Maksud, Khachatryan, Samson, Silvestri, Gabriella, Bourinaris, Thomas, Fidani, Liana

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination by Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Markus, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry

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Développement d’un programme multidisciplinaire de diagnostic de l’adrénoleucodystrophie liée à l’X au Maroc: résultats de la mise en œuvre du programme de diagnostic clinique et b... by Madani Benjelloun, Fatima-Zohra, Chabraoui, Layachi, Kriouile, Yamna

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Identification of novel mutations by targeted NGS in Moroccan families clinically diagnosed with a neuromuscular disorder by Rochdi, Khaoula, Cerino, Mathieu, Da Silva, Nathalie, Delague, Valerie, Bouzidi, Aymane, Nahili, Halima, Zouiri, Ghizlane, Kriouile, Yamna, Gorokhova, Svetlana, Bartoli, Marc, Saïle, Rachid, Barakat, Abdelhamid, Krahn, Martin

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Identification of a novel LAMA2 c.2217G A, p by El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber

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Mutations in TAF8 cause a neurodegenerative disorder by Wong, Keit Men, Jepsen, Wayne M, Efthymiou, Stephanie, Salpietro, Vincenzo, Sanchez-Castillo, Meredith, Yip, Janice, Kriouile, Yamna, Diegmann, Susann, Dreha-Kulaczewski, Steffi, Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Toosi, Mehran Beiraghi, Akhondian, Javad, Ghayoor Karimiani, Ehsan, Hummel-Abmeier, Hannah, Huppke, Brenda, Houlden, Henry, Gärtner, Jutta, Maroofian, Reza, Huppke, Peter

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A rare PANK2 deletion in the first north African patient affected with pantothenate kinase associated neurodegeneration by Efthymiou, Stephanie, Kriouile, Yamna, Salpietro, Vincenzo, Hajar, Rhouda, Ghizlane, Zouiri, Mankad, Kshitij, El Khorassani, Mohamed, Aguennouz, Mhammed, Houlden, Henry, Wiethoff, Sarah

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Anti-N-methyl-D-aspartate Receptor Encephalitis in Children: A Case Report/Cocuklarda Anti-N-metil-D-aspartat Reseptor Ensefaliti: Bir Olgu Sunumu by Rhouda, Hajar, Abboudi, Khadija, Kriouile, Yamna

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