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American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1009 - 1016
Hereditary sensory autonomic neuropathy type IV (HSAN‐IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by... 
NGF‐nerve growth factor | ADHD‐attention deficit hyperactivity disorder | CIPA‐congenital insensitivity to pain with anhidrosis | NTRK1‐neurotrophic tyrosine kinase receptor type 1 | HSAN‐hereditary sensory and autonomic neuropathy | NGF-nerve growth factor | CIPA-congenital insensitivity to pain with anhidrosis | ADHD-attention deficit hyperactivity disorder | NTRK1-neurotrophic tyrosine kinase receptor type 1 | HSAN-hereditary sensory and autonomic neuropathy | CONGENITAL INSENSITIVITY | TYROSINE KINASE | TRKA/NGF RECEPTOR GENE | NERVE GROWTH-FACTOR | HIGH-AFFINITY RECEPTOR | ANHIDROSIS CIPA | PAIN | GENETICS & HEREDITY | TRK RECEPTORS | NEUROTROPHIN RECEPTORS | NEUROPATHY TYPE-IV | Neurons - pathology | Hereditary Sensory and Autonomic Neuropathies - physiopathology | Humans | Child, Preschool | Male | Mutation, Missense | Exome | Saudi Arabia | Chromosomes, Human, Pair 1 | Base Sequence | Female | Neurons - metabolism | Child | Hypohidrosis - physiopathology | Severity of Illness Index | Gene Expression | Nerve Growth Factor - metabolism | Protein Structure, Secondary | Models, Molecular | Nerve Growth Factor - genetics | Codon, Nonsense | Genes, Recessive | Intellectual Disability - physiopathology | Phenotype | Self-Injurious Behavior - physiopathology | Receptor, trkA - metabolism | Adolescent | Receptor, trkA - chemistry | Protein Binding | Receptor, trkA - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Consanguinity | High-Throughput Nucleotide Sequencing | Hereditary Sensory and Autonomic Neuropathies - diagnosis | Tyrosine | Nerve growth factor | Genetic aspects | Genotype & phenotype | Rodents | Mutation
Journal Article
Translational Neuroscience, ISSN 2081-3856, 07/2017, Volume 8, Issue 1, pp. 65 - 69
Congenital Myasthenic Syndrome (CMS) is a group of inherited neuromuscular junction disorders caused by defects in several genes. Clinical features include... 
microcephaly | Saudi Arabia | COLQ mutant | Genetics | congenital myasthenic syndrome | pediatrics | MUTATIONS | EPHEDRINE TREATMENT | NEUROSCIENCES
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
Neurodegenerative disease management, 06/2019, Volume 9, Issue 3, p. 123
Duchenne muscular dystrophy (DMD) is a severe and rare X-linked neuromuscular childhood disorder that results in functional decline, loss of ambulation and... 
Journal Article
Journal Article
Biosensors and Bioelectronics, ISSN 0956-5663, 10/2018, Volume 117, pp. 84 - 90
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2009, Volume 41, Issue 1, pp. 74 - 76
Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three... 
Pediatrics | Neurology | PEDIATRICS | PROTEIN | MUTATIONS | CLINICAL NEUROLOGY | Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Proteins - genetics | Humans | Child, Preschool | Family | Female | Male | Mutation | Child | Saudi Arabia - epidemiology | Sequence Analysis, DNA | Neuronal Ceroid-Lipofuscinoses - epidemiology | Neurons | Medical genetics
Journal Article
Neurosciences, ISSN 1319-6138, 10/2008, Volume 13, Issue 4, pp. 433 - 436
Vanishing white matter disease (VWMD) is an under-diagnosed condition that affects the brain's white matter at all ages, especially in the pediatric age group.... 
EIF2B-EPSILON | ONSET | CLINICAL NEUROLOGY | DISEASE
Journal Article
Advances in Speech-Language Pathology, ISSN 1441-7049, 03/2006, Volume 8, Issue 1, pp. 7 - 16
The present study is a retrospective case note review of children with a diagnosis of Nemaline Myopathy attending a tertiary neuromuscular centre. Nineteen... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2017, Volume 173, Issue 4, pp. 1009 - 1016
Journal Article
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