New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations by Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

Get full text

Ancient founder mutation in RUBCN: a second unrelated family confirms Salih ataxia (SCAR15) by Seidahmed, Mohammed Z, Hamad, Muddathir H, AlBakheet, Albandary, Elmalik, Salah A, AlDrees, Abdulmajeed, Al-Sufayan, Jumanah, Alorainy, Ibrahim, Ghozzi, Ibrahim M, Colak, Dilek, Salih, Mustafa A, Kaya, Namik

Get full text

Intra-familial phenotypic heterogeneity in a Sudanese family with DARS2-related leukoencephalopathy, brainstem and spinal cord involvement and lactate elevation: a case report by Yahia, Ashraf, Elsayed, Liena, Babai, Arwa, Salih, Mustafa A, El-Sadig, Sarah Misbah, Amin, Mutaz, Koko, Mahmoud, Abubakr, Rayan, Idris, Razaz, Taha, Shaimaa Omer M A, Elmalik, Salah A, Brice, Alexis, Ahmed, Ammar Eltahir, Stevanin, Giovanni

Get full text

C19orf12 mutation leads to a pallido-pyramidal syndrome by Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan

Get full text

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia by Tesson, Christelle, Nawara, Magdalena, Salih, Mustafa A.M., Rossignol, Rodrigue, Zaki, Maha S., Al Balwi, Mohammed, Schule, Rebecca, Mignot, Cyril, Obre, Emilie, Bouhouche, Ahmed, Santorelli, Filippo M., Durand, Christelle M., Oteyza, Andrés Caballero, El-Hachimi, Khalid H., Al Drees, Abdulmajeed, Bouslam, Naima, Lamari, Foudil, Elmalik, Salah A., Kabiraj, Mohammad M., Seidahmed, Mohammed Z., Esteves, Typhaine, Gaussen, Marion, Monin, Marie-Lorraine, Gyapay, Gabor, Lechner, Doris, Gonzalez, Michael, Depienne, Christel, Mochel, Fanny, Lavie, Julie, Schols, Ludger, Lacombe, Didier, Yahyaoui, Mohamed, Al Abdulkareem, Ibrahim, Zuchner, Stephan, Yamashita, Atsushi, Benomar, Ali, Goizet, Cyril, Durr, Alexandra, Gleeson, Joseph G., Darios, Frederic, Brice, Alexis, Stevanin, Giovanni

Get full text

SLC25A22 is a novel gene for migrating partial seizures in infancy by Poduri, Annapurna, Heinzen, Erin L., Chitsazzadeh, Vida, Lasorsa, Francesco Massimo, Elhosary, P. Christina, LaCoursiere, Christopher M., Martin, Emilie, Yuskaitis, Christopher J., Hill, Robert Sean, Atabay, Kutay Deniz, Barry, Brenda, Partlow, Jennifer N., Bashiri, Fahad A., Zeidan, Radwan M., Elmalik, Salah A., Kabiraj, Mohammad M. U., Kothare, Sanjeev, Stödberg, Tommy, McTague, Amy, Kurian, Manju A., Scheffer, Ingrid E., Barkovich, A. James, Palmieri, Ferdinando, Salih, Mustafa A., Walsh, Christopher A.

Get full text

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia by Assoum, Mirna, Salih, Mustafa A., Drouot, Nathalie, H'Mida-Ben Brahim, Dorra, Lagier-Tourenne, Clotilde, AlDrees, Abdulmajeed, Elmalik, Salah A., Ahmed, Taha S., Seidahmed, Mohammad Z., Kabiraj, Mohammad M., Koenig, Michel

Get full text

The neurology of carbonic anhydrase type II deficiency syndrome by Bosley, Thomas M., Salih, Mustafa A., Alorainy, Ibrahim A., Islam, M. Zahidul, Oystreck, Darren T., Suliman, Omer S. M., Malki, Salem al, Suhaibani, Adel H., Khiari, Hattan, Beckers, Sigri, van Wesenbeeck, Liesbeth, Perdu, Bram, AlDrees, Abdulmajeed, Elmalik, Salah A., Van Hul, Wim, Abu-Amero, Khaled K.

Get full text

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations by Salih, Mustafa A., Mundwiller, Emeline, Khan, Arif O., AlDrees, Abdulmajeed, Elmalik, Salah A., Hassan, Hamdy H., Al-Owain, Mohammed, Alkhalidi, Hisham M. S., Katona, Istvan, Kabiraj, Mohammad M., Chrast, Roman, Kentab, Amal Y., Alzaidan, Hamad, Rodenburg, Richard J., Bosley, Thomas M., Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

Get full text

Electrophysiology of ataxia-telangiectasia-like disorder 1 by Elmalik, Salah A

Get full text

A newly recognized autosomal recessive syndrome affecting neurologic function and vision by Salih, Mustafa A., Tzschach, Andreas, Oystreck, Darren T., Hassan, Hamdy H., AlDrees, Abdulmajeed, Elmalik, Salah A., El Khashab, Heba Y., Wienker, Thomas F., Abu-Amero, Khaled K., Bosley, Thomas M.

Get full text

A recessive ataxia diagnosis algorithm for the next generation sequencing era by Renaud, Mathilde, Tranchant, Christine, Martin, Juan Vicente Torres, Mochel, Fanny, Synofzik, Matthis, van de Warrenburg, Bart, Pandolfo, Massimo, Koenig, Michel, Kolb, Stefan A., Anheim, Mathieu, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A., Bompaire, Flavie, Bonneau, Dominique, Bonneau, Patrizia, Boycott, Kym M., Bras, Jose, Brais, Bernard, Brigatti, Karlla W., Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Dotti, Maria Teresa, El‐Euch, Ghada, Elmalik, Salah A., Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin‐Baer, Sharon, Heimdal, Ketil Riddervold, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu‐Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, Lu, Chin‐Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A., Sousa, Sergio, Stanier, Philip, Stoppa‐Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I., Yahalom, Gilad, Yoon, Grace, Young, Millie

Get full text

C19orf12 mutation leads to Karak pallido-pyramidal syndrome by Kruer, Michael C., Salih, Mustafa A., Mooney, Catherine, Alzahrani, Jawahir, Elmalik, Salah A., Kabiraj, Mohammad M., Khan, Arif O., Paudel, Reema, Houlden, Henry, Azzedine, Hamid, Alkuraya, Fowzan

Get full text

New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations: e76831 by Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham MS, Katona, Istvan, Kabiraj, Mohammad M

Get full text

Correction: New Findings in a Global Approach to Dissect the Whole Phenotype of Gene Mutations by Mustafa A. Salih, Emeline Mundwiller, Arif O. Khan, Abdulmajeed AlDrees, Salah A. Elmalik, Hamdy H. Hassan, Mohammed Al-Owain, Hisham M. S. Alkhalidi, Istvan Katona, Mohammad M. Kabiraj, Roman Chrast, Amal Y. Kentab, Hamad Alzaidan, Richard J. Rodenburg, Thomas M. Bosley, Joachim Weis, Michel Koenig, Giovanni Stevanin, Hamid Azzedine

Get full text

Impact of clinical pharmacy services in a short stay unit of a hospital emergency department in Qatar by Abdelaziz, Hani, Al Anany, Rasha, Elmalik, Ashraf, Saad, Mohammad, Prabhu, Kirti, Al-Tamimi, Haleema, Salah, Salem Abu, Cameron, Peter

Get full text

Descriptive Patterns of Deafness Among Pre-School Saudi Children Aged Two to Five Years Visiting Neurology Clinic From 2012 to 2017 by Elmalik, Salah, Alshawi, Saleh, AlQahtani, Ahmed Moraya, AlShammasi, Hassan S, Alruwaili, Ahmed, Aldughaim, Ahmad, Alkhalifa, Saleh Abdullah

Get full text