Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (19) 19
humans (12) 12
female (11) 11
male (10) 10
child (8) 8
adult (7) 7
clinical neurology (7) 7
genetics & heredity (7) 7
diagnosis (6) 6
phenotype (6) 6
children (5) 5
health aspects (5) 5
mutation (5) 5
pediatrics (5) 5
child, preschool (4) 4
consanguinity (4) 4
young adult (4) 4
adolescent (3) 3
autozygome (3) 3
care and treatment (3) 3
case report (3) 3
epilepsy (3) 3
gene (3) 3
genetic aspects (3) 3
genetic association studies (3) 3
infant (3) 3
intellectual disability - genetics (3) 3
management (3) 3
neurosciences (3) 3
pedigree (3) 3
usage (3) 3
abnormalities (2) 2
ataxia (2) 2
biomedicine (2) 2
care (2) 2
causes of (2) 2
disorders (2) 2
dna copy number variations (2) 2
epilepsy in children (2) 2
exome (2) 2
exome - genetics (2) 2
gene expression (2) 2
gene function (2) 2
gene mutations (2) 2
genes (2) 2
genetic predisposition to disease (2) 2
genome, human (2) 2
genomics (2) 2
guidelines (2) 2
high-throughput nucleotide sequencing (2) 2
homozygote (2) 2
hospitals (2) 2
human genetics (2) 2
intellectual disability (2) 2
karyotyping - methods (2) 2
magnetic resonance imaging (2) 2
medical colleges (2) 2
medicine (2) 2
mental-retardation (2) 2
metabolic diseases (2) 2
molecular medicine (2) 2
mutations (2) 2
polymorphism, single nucleotide (2) 2
practice guidelines (2) 2
prevalence (2) 2
research (2) 2
risk factors (2) 2
saudi arabia (2) 2
saudi arabia - epidemiology (2) 2
sequence analysis, dna (2) 2
standards (2) 2
status epilepticus (2) 2
treatment outcome (2) 2
6200 (1) 1
abridged index medicus (1) 1
adoption (1) 1
adrenal cortex hormones - therapeutic use (1) 1
adults (1) 1
alfacalcidol (1) 1
alleles (1) 1
ambulatory patients (1) 1
american-college (1) 1
amino acid sequence (1) 1
amino acid transport systems, acidic - deficiency (1) 1
amino acid transport systems, acidic - genetics (1) 1
analysis (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - diagnosis (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - drug therapy (1) 1
anti-n-methyl-d-aspartate receptor encephalitis - pathology (1) 1
anti-nmdar encephalitis (1) 1
antibodies (1) 1
antiepileptic drugs (1) 1
antiporters - deficiency (1) 1
antiporters - genetics (1) 1
array-cgh (1) 1
attention deficit disorder (1) 1
attention deficit hyperactivity disorder (1) 1
attention-deficit hyperactivity disorder (1) 1
attitude to computers (1) 1
attitudes (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Appraisal of clinical practice guidelines for the management of attention deficit hyperactivity disorder (ADHD) using the AGREE II Instrument: A systematic review
by Amer, YS and Al-Joudi, HF and Varnham, JL and Bashiri, FA and Hamad, MH and Al Salehi, SM and Daghash, HF and Albatti, TH and Saudi ADHD Soc and on behalf of The Saudi ADHD Society
PLOS ONE, ISSN 1932-6203, 07/2019, Volume 14, Issue 7, p. e0219239
Background and objective High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and... 
DIAGNOSIS | QUALITY | MULTIDISCIPLINARY SCIENCES | STANDARDS | CONSENSUS | MEDICINE | CHILDREN | TOOLS | Practice guidelines (Medicine) | Evaluation | Care and treatment | Evidence-based medicine | Standards | Attention-deficit hyperactivity disorder | Medical care | Health care industry | Quality management | Health care | Attention deficit disorder | Pediatrics | Neurosciences | Authorship | Hyperactivity | Attention deficit hyperactivity disorder | Systematic review | Embedding | Management | Guidelines | Scientific papers | Literature reviews | Medicine | Quality standards | Hospitals | Clinical medicine | Protocol (computers) | Bibliographic data bases | CpG islands
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Appraisal of clinical practice guidelines for the management of attention deficit hyperactivity disorder (ADHD) using the AGREE II Instrument: A systematic review
by Amer, Yasser Sami and Al-Joudi, Haya Faisal and Varnham, Jeremy L and Bashiri, Fahad A and Hamad, Muddathir Hamad and Al Salehi, Saleh M and Daghash, Hadeel Fakhri and Albatti, Turki Homod and Saudi ADHD Society
PloS one, 2019, Volume 14, Issue 7, p. e0219239
High quality evidence-based clinical practice guidelines (CPGs) have a major impact on the appropriate diagnosis and management and positive outcomes. The... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Satisfaction and perceived usefulness with newly-implemented Electronic Health Records System among pediatricians at a university hospital
by Alsohime, Fahad and Temsah, Mohamad-Hani and Al-Eyadhy, Ayman and Bashiri, Fahad A and Househ, Mowafa and Jamal, Amr and Hasan, Gamal and Alhaboob, Ali A and Alabdulhafid, Majed and Amer, Yasser S
Computer Methods and Programs in Biomedicine, ISSN 0169-2607, 02/2019, Volume 169, pp. 51 - 57
Apposite implementation of Electronic Health Records (EHR) is anchoring standards of care in healthcare settings by reducing long-run operational costs,... 
Pediatrics | Usefulness | Physicians | Satisfaction | Electronic Health Record | COUNTRIES | MEDICAL INFORMATICS | QUALITY IMPROVEMENT | ENGINEERING, BIOMEDICAL | ADOPTION | CARE | ATTITUDES | CHILDREN | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | INFORMATION-TECHNOLOGY | EHR IMPLEMENTATION | COMPUTER SCIENCE, THEORY & METHODS | Saudi Arabia | Cross-Sectional Studies | Humans | Middle Aged | Attitude to Computers | Hospitals, University | Diffusion of Innovation | Adult | Female | Male | Electronic Health Records | Pediatricians - psychology
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Hypokalemic periodic paralysis due to CACNA1S gene mutation
by Alhasan, KA and Abdallah, MS and Kari, JA and Bashiri, FA
NEUROSCIENCES, ISSN 1319-6138, 07/2019, Volume 24, Issue 3, pp. 225 - 230
Hypokalemic periodic paralysis (HypoPP) is a relatively rare but treatable disorder caused by mutations in the CACNA1S gene. HypoPP patients may experience... 
CLINICAL NEUROLOGY
Journal Article
Details down arrow
5. Effect of new modalities of treatment on physicians' management plan for patients with spinal muscular atrophy
by Bashiri, FA and Idris, HA and Al-Sohime, FM and Temsah, MH and Alhasan, KA
NEUROSCIENCES, ISSN 1319-6138, 01/2019, Volume 24, Issue 1, pp. 16 - 21
Objectives: To determine physicians' attitudes and stated practice in the management of patients with spinal muscular atrophy (SMA). We also aimed to explore... 
SHAM CONTROL | NUSINERSEN | DIAGNOSIS | CONSENSUS STATEMENT | CARE | STANDARD | CLINICAL NEUROLOGY
Journal Article
Details down arrow
6. Respiratory support attitudes among pediatric intensive care staff for spinal muscular atrophy patients in Saudi Arabia
by Temsah, Mohamad-Hani A and Al-Sohime, Fahad M and Bashiri, Fahad A and Al-Eyadhy, Ayman A and Hasan, Gamal M and Alhaboob, Ali A
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
Details down arrow
7. Assessment of physicians knowledge and attitudes in the management of febrile seizures
by Bashiri, Fahad A and Al Shalawi, Anfal A and Hamad, Muddathir H and Al Saif, Hadeel F and Saeed, Elshazaly and Al Shehri, Amjad F and Alhasan, Khalid A
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
Details down arrow
8. Full Text Auto-immune anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis: three case reports
by Bashiri, Fahad A and Al-Rasheed, Abdulrahman A and Hassan, Saeed M and Hamad, Muddathir H. A and El Khashab, Heba Y and Kentab, Amal Y and AlBadr, Fahad B and Salih, Mustafa A
Paediatrics and International Child Health, ISSN 2046-9047, 07/2017, Volume 37, Issue 3, pp. 222 - 226
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently identified auto-immune disorder characterised by severe memory deficit, a decreased... 
Immunomodulation therapy | Anti-NMDAR encephalitis | Children | Auto-antibodies | Movement disorder | ANTIBODIES | PEDIATRICS | PATIENT | Brain - diagnostic imaging | Diagnosis, Differential | Autoantibodies - blood | Humans | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - pathology | Child, Preschool | Infant | Treatment Outcome | Adrenal Cortex Hormones - therapeutic use | Magnetic Resonance Imaging | Rituximab - therapeutic use | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - diagnosis | Immunoglobulins, Intravenous - therapeutic use | Female | Child | Receptors, N-Methyl-D-Aspartate - immunology | Anti-N-Methyl-D-Aspartate Receptor Encephalitis - drug therapy | Immunologic Factors - therapeutic use
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Physicians' Understanding of Nutritional Factors Determining Brain Development and Cognition in the Middle East and Africa
by Vandenplas, Yvan and Rakhecha, Aditya and Edris, Amira and Shaaban, Bassel and Tawfik, Eslam and Bashiri, Fahad A and AlAql, Fahd and Alsabea, Hassan and Haddad, Joseph and Barbary, Mohammed El and Salah, Mohamed and Abouelyazid, Mohamed and Kumar, Mudit and Alsaad, Sulaiman
Pediatric gastroenterology, hepatology & nutrition, ISSN 1229-0114, 2019, Volume 22, Issue 6, pp. 536 - 544
Purpose: Proper nutrition is essential for brain development during infancy, contributing to the continued development of cognitive, motor, and socio-emotional... 
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes
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
In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | CHARGE | GENETICS & HEREDITY | KABUKI SYNDROMES | Reproducibility of Results | Genetic Testing | Humans | Molecular Sequence Annotation | Male | Genetic Diseases, Inborn - epidemiology | Sequence Analysis, DNA | Morbidity | Exome | Homozygote | Phenotype | Female | Consanguinity | High-Throughput Nucleotide Sequencing | Mutation | Genome, Human | Genetic Diseases, Inborn - diagnosis | Saudi Arabia - epidemiology | Medical colleges | Neural cell adhesion molecule | DSCAM protein | Dementia disorders | Population studies | Heredity | Dishevelled protein | Siblings | Original Investigation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
by Alazami, Anas M and Patel, Nisha and Shamseldin, Hanan E and Anazi, Shamsa and Al-Dosari, Mohammed S and Alzahrani, Fatema and Hijazi, Hadia and Alshammari, Muneera and Aldahmesh, Mohammed A and Salih, Mustafa A and Faqeih, Eissa and Alhashem, Amal and Bashiri, Fahad A and Al-Owain, Mohammed and Kentab, Amal Y and Sogaty, Sameera and Al Tala, Saeed and Temsah, Mohamad-Hani and Tulbah, Maha and Aljelaify, Rasha F and Alshahwan, Saad A and Seidahmed, Mohammed Zain and Alhadid, Adnan A and Aldhalaan, Hesham and AlQallaf, Fatema and Kurdi, Wesam and Alfadhel, Majid and Babay, Zainab and Alsogheer, Mohammad and Kaya, Namik and Al-Hassnan, Zuhair N and Abdel-Salam, Ghada M.H and Al-Sannaa, Nouriya and Al Mutairi, Fuad and El Khashab, Heba Y and Bohlega, Saeed and Jia, Xiaofei and Nguyen, Henry C and Hammami, Rakad and Adly, Nouran and Mohamed, Jawahir Y and Abdulwahab, Firdous and Ibrahim, Niema and Naim, Ewa A and Al-Younes, Banan and Meyer, Brian F and Hashem, Mais and Shaheen, Ranad and Xiong, Yong and Abouelhoda, Mohamed and Aldeeri, Abdulrahman A and Monies, Dorota M and Alkuraya, Fowzan S
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex... 
NEURONAL MIGRATION | MENTAL-RETARDATION | GENOMIC ANALYSIS | MICE | MUTATIONS | EPILEPSY | DEFICIENCY | ONSET | REVEALS | SUBUNIT | CELL BIOLOGY | Central Nervous System Diseases - genetics | Central Nervous System Diseases - pathology | Genetic Association Studies | Humans | Male | Chromosome Mapping | Sequence Analysis, DNA | Homozygote | Phenotype | Pedigree | Female | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Childhood epilepsies: What should a pediatrician know?
by Bashiri, Fahad A
Neurosciences, ISSN 1319-6138, 01/2017, Volume 22, Issue 1, pp. 14 - 19
Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This... 
CENTROTEMPORAL SPIKES | MANAGEMENT | ABNORMALITIES | BENIGN EPILEPSY | STATUS EPILEPTICUS | FEBRILE SEIZURES | PREVALENCE | BECTS | CLINICAL NEUROLOGY | CHILDREN | Practice | Care and treatment | Diagnosis | Epilepsy in children | Pediatricians | Review
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: A retrospective review of the clinical, radiological and molecular findings of 18 new cases
by Alfadhel, Majid and Almuntashri, Makki and Jadah, Raafat H and Bashiri, Fahad A and Al Rifai, Muhammad Talal and Al Shalaan, Hisham and Al Balwi, Mohammed and Al Rumayan, Ahmed and Eyaid, Wafaa and Al-Twaijri, Waleed
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 83 - 83
Background: Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive neurometabolic disorder. It is characterized by sub acute encephalopathy... 
Neurometabolic | SLC19A3 | Biotin | Biotin-responsive basal ganglia disease | Encephalopathy | Thiamine | MEDICINE, RESEARCH & EXPERIMENTAL | Humans | Wernicke Encephalopathy - diagnostic imaging | Child, Preschool | Thiamine - therapeutic use | Infant | Male | Basal Ganglia - pathology | Basal Ganglia Diseases - drug therapy | Biotin - therapeutic use | Wernicke Encephalopathy - physiopathology | Radiography | Young Adult | Magnetic Resonance Imaging | Basal Ganglia Diseases - classification | Basal Ganglia Diseases - physiopathology | Membrane Transport Proteins - genetics | Adolescent | Adult | Female | Basal Ganglia Diseases - diagnostic imaging | Mutation | Wernicke Encephalopathy - drug therapy | Child | Care and treatment | Usage | Extrapyramidal disorders | Radiology | Radiology, Medical | Diagnosis | Identification and classification | Health aspects | Pyrimidines | Diagnostic imaging | Seizures (Medicine) | Research | Neurology | Nuclear magnetic resonance--NMR | Hospitals | Drug therapy | Colleges & universities
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
14. Full Text Genomic and phenotypic delineation of congenital microcephaly
by Shaheen, Ranad and Maddirevula, Sateesh and Ewida, Nour and Alsahli, Saud and Abdel-Salam, Ghada M. H and Zaki, Maha S and Tala, Saeed Al and Alhashem, Amal and Softah, Ameen and Al-Owain, Mohammed and Alazami, Anas M and Abadel, Basma and Patel, Nisha and Al-Sheddi, Tarfa and Alomar, Rana and Alobeid, Eman and Ibrahim, Niema and Hashem, Mais and Abdulwahab, Firdous and Hamad, Muddathir and Tabarki, Brahim and Alwadei, Ali H and Alhazzani, Fahad and Bashiri, Fahad A and Kentab, Amal and Şahintürk, Serdar and Sherr, Elliott and Fregeau, Brieana and Sogati, Samira and Alshahwan, Saad Ali M and Alkhalifi, Salwa and Alhumaidi, Zainab and Temtamy, Samia and Aglan, Mona and Otaify, Ghada and Girisha, Katta M and Tulbah, Maha and Seidahmed, Mohammed Zain and Salih, Mustafa A and Abouelhoda, Mohamed and Momin, Afaque A and Saffar, Muna Al and Partlow, Jennifer N and Arold, Stefan T and Faqeih, Eissa and Walsh, Christopher and Alkuraya, Fowzan S
Genetics in Medicine, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 545 - 552
Purpose: Congenital microcephaly (CM) is an important birth defect with long term neurological sequelae. We aimed to perform detailed phenotypic and genomic... 
primary microcephaly | autozygome | dwarfism | CNTRL | CEP135 | FORM | RECESSIVE MUTATIONS | MECHANISMS | INTELLECTUAL DISABILITY | TRUNCATING MUTATION | GENE | FAMILIES | GENETICS & HEREDITY | TRANSFER-RNA
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
15. Full Text Vitamin D supplementation to prevent vitamin D deficiency for children with epilepsy: Randomized pragmatic trial protocol
by Khalifah, Reem Al and Hudairi, Abrar and Homyani, Doua Al and Hamad, Muddathir H and Bashiri, Fahad A
Medicine, ISSN 0025-7974, 10/2018, Volume 97, Issue 40, p. e12734
Background : Vitamin D deficiency is highly prevalent among children with epilepsy. Lack of high-quality evidence led to variability among scientific societies... 
epilepsy | AMBULATORY PATIENTS | MEDICINE, GENERAL & INTERNAL | seizure | THERAPY | MONOTHERAPY | METABOLISM | vitamin D | pediatrics | PREVALENCE | ANTIEPILEPTIC DRUGS | BONE TURNOVER | Bone Density | Humans | Clinical Protocols | Male | Treatment Outcome | Parathyroid Hormone - blood | Vitamins - therapeutic use | Epilepsy - complications | Vitamin D - blood | Vitamin D Deficiency - prevention & control | Cholecalciferol - therapeutic use | Adolescent | Female | Vitamin D - analogs & derivatives | Nutritional Status | Child | Dietary Supplements | Epilepsy - blood | Complications and side effects | Vitamin D deficiency | Usage | Diet therapy | Vitamin D | Epilepsy in children | Dietary supplements | Calcifediol | Alfacalcidol | Health aspects | Risk factors
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
16. Full Text SLC25A22 is a novel gene for migrating partial seizures in infancy
by Poduri, Annapurna and Heinzen, Erin L and Chitsazzadeh, Vida and Lasorsa, Francesco Massimo and Elhosary, P. Christina and LaCoursiere, Christopher M and Martin, Emilie and Yuskaitis, Christopher J and Hill, Robert Sean and Atabay, Kutay Deniz and Barry, Brenda and Partlow, Jennifer N and Bashiri, Fahad A and Zeidan, Radwan M and Elmalik, Salah A and Kabiraj, Mohammad M. U and Kothare, Sanjeev and Stödberg, Tommy and McTague, Amy and Kurian, Manju A and Scheffer, Ingrid E and Barkovich, A. James and Palmieri, Ferdinando and Salih, Mustafa A and Walsh, Christopher A
Annals of Neurology, ISSN 0364-5134, 12/2013, Volume 74, Issue 6, pp. 873 - 882
Objective To identify a genetic cause for migrating partial seizures in infancy (MPSI). Methods We characterized a consanguineous pedigree with MPSI and... 
TRANSPORTER | MUTATIONS | WDR62 | IDENTIFICATION | NEUROSCIENCES | CARRIER | CLINICAL NEUROLOGY | Exome - genetics | Epilepsy, Benign Neonatal - genetics | Epilepsy, Benign Neonatal - physiopathology | Pedigree | Humans | Adult | Female | Male | Consanguinity | Genetic Linkage - genetics | Infant, Newborn | Mitochondrial Membrane Transport Proteins - genetics | Genes | Mutation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
17. Full Text Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination
by Chelban, Viorica and Patel, Nisha and Vandrovcova, Jana and Zanetti, M. Natalia and Lynch, David S and Ryten, Mina and Botia, Juan A and Bello, Oscar and Tribollet, Eloise and Efthymiou, Stephanie and Davagnanam, Indran and Bashiri, Fahad A and Wood, Nicholas W and Rothman, James E and Alkuraya, Fowzan S and Houlden, Henry
American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, p. 969
Causes of | Ataxia | Genetic aspects | Gene mutations | Health aspects
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
18. Full Text ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita
by Abumansour, Iman S and Hijazi, Hadia and Alazmi, Anas and Alzahrani, Fatma and Bashiri, Fahad A and Hassan, Hamdy and Alhaddab, Mohammed and Alkuraya, Fowzan S
Human Genetics, ISSN 0340-6717, 8/2015, Volume 134, Issue 8, pp. 815 - 822
Cutis Marmorata Telangiectatica Congenita (CMTC) is a congenital localized or generalized vascular anomaly, usually sporadic in occurrence. It can be... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | PHAKOMATOSIS PIGMENTOVASCULARIS | MONGOLIAN SPOTS | GENETICS & HEREDITY | Telangiectasis - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Brain Ischemia - genetics | Child, Preschool | Male | Central Nervous System Vascular Malformations - genetics | Telangiectasis - congenital | Genetic Loci | Stroke - genetics | Syndrome | Heat-Shock Proteins - genetics | Skin Diseases, Vascular - genetics | Adult | Female | Mutation | Stroke (Disease) | Medical colleges | Development and progression | Disease susceptibility | Genetic disorders | Ischemia
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
19. Full Text Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
by Chelban, Viorica and Patel, Nisha and Vandrovcova, Jana and Zanetti, M. Natalia and Lynch, David S and Ryten, Mina and Botía, Juan A and Bello, Oscar and Tribollet, Eloise and Efthymiou, Stephanie and Davagnanam, Indran and Bashiri, Fahad A and Wood, Nicholas W and Rothman, James E and Alkuraya, Fowzan S and Houlden, Henry and SYNAPSE Study Group
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 | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights