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Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 969 - 977
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders... 
genetic | spasticity | leukodystrophy | NKX6-2 | ataxia | recessive | IDENTITY | HUMAN BRAIN | WHITE-MATTER | GENE | ABNORMALITIES | GENETICS & HEREDITY | REPRESSOR ACTIVITY | PSYCHIATRIC-DISORDERS | GTX | MOTOR-NEURON | HOMEODOMAIN PROTEIN | Brain - embryology | Humans | Amino Acid Transport Systems, Acidic - deficiency | Infant | Intellectual Disability - complications | Male | Psychomotor Disorders - complications | Gene Regulatory Networks | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Mitochondrial Diseases - complications | Psychomotor Disorders - genetics | Antiporters - genetics | Adult | Female | Child | Hereditary Central Nervous System Demyelinating Diseases - genetics | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Amino Acid Sequence | Spinocerebellar Ataxias - complications | Optic Atrophy - complications | Homeodomain Proteins - chemistry | Mutation - genetics | Homeodomain Proteins - genetics | Phenotype | Pedigree | Muscle Spasticity - complications | Amino Acid Transport Systems, Acidic - genetics | Hereditary Central Nervous System Demyelinating Diseases - complications | Muscle Spasticity - genetics | Causes of | Ataxia | Genetic aspects | Gene mutations | Health aspects | Index Medicus | Report
Journal Article
Neurosciences (Riyadh, Saudi Arabia), ISSN 1319-6138, 01/2019, Volume 24, Issue 1, pp. 16 - 21
To determine physicians` attitudes and stated practice in the management of patients with spinal muscular atrophy (SMA). We also aimed to explore their... 
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 64 - 68
Purpose: Genome-wide association studies (GWAS) have been instrumental to our understanding of the genetic risk determinants of complex traits. A common... 
autozygome | GWAS | loss of function | consanguinity | COMMON VARIANTS | SYSTEMIC-LUPUS-ERYTHEMATOSUS | HUMAN-GENETICS | DISORDERS | DIABETIC-NEPHROPATHY | DISCOVERY | GENES | GENETICS & HEREDITY | SUSCEPTIBILITY LOCUS | PSORIASIS | GENOME-WIDE ASSOCIATION | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2015, Volume 17, Issue 9, pp. 719 - 725
Journal Article
Neurosciences, ISSN 1319-6138, 01/2018, Volume 23, Issue 1, pp. 62 - 65
Objectives: To explore therapeutic attitude of healthcare providers practicing in pediatric critical care in Saudi Arabia toward patients with Spinal Muscular... 
TYPE-1 | NONINVASIVE VENTILATION | CLINICAL NEUROLOGY | CHILDREN
Journal Article
Neurosciences (Riyadh, Saudi Arabia), ISSN 1319-6138, 10/2018, Volume 23, Issue 4, pp. 314 - 319
Objectives: To assess the knowledge and attitudes of physicians in different specialties who are involved in the care of children with FS. Methods: We assessed... 
RISK | NEURODIAGNOSTIC EVALUATION | CHILD | CLINICAL NEUROLOGY
Journal Article