Search Results - "Murad, Hatem"
-
1
Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia
Published in Frontiers in neuroscience (22-02-2022)“…To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy. A…”
Get full text
Journal Article -
2
Evaluation of Biases in Construction Project Dispute Resolution: Case Study
Published in Journal of legal affairs and dispute resolution in engineering and construction (01-02-2022)“…AbstractConstruction projects have become complex; therefore, their hierarchy is becoming increasingly complicated, and the level of disputes is more serious…”
Get full text
Journal Article -
3
LGMD1D myopathy with cytoplasmic and nuclear inclusions in a Saudi family due to DNAJB6 mutation
Published in Acta myologica (01-09-2018)“…Autosomal dominant LGMD1D has been described in multiple families in Asia, Europe, and USA. However, to the best of our knowledge, no cases of LGMD1D have been…”
Get full text
Journal Article -
4
Clinical and genetic features of anoctaminopathy in Saudi Arabia
Published in Neurosciences (Riyadh, Saudi Arabia) (01-04-2015)“…Characterization of the phenotypic, pathological, radiological, and genetic findings in 2 Saudi Arabian families with anoctaminopathies, and limb girdle…”
Get full text
Journal Article -
5
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis
Published in Neurosciences (Riyadh, Saudi Arabia) (01-01-2012)“…To assess the mutational and clinical spectrum of spatacsin associated with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum…”
Get full text
Journal Article -
6
Chorea-acanthocytosis: Clinical and genetic findings in three families from the Arabian peninsula
Published in Movement disorders (01-04-2003)“…Chorea‐acanthocytosis is a rare autosomal recessive disorder. Its characteristics are orofacial dyskinesia, hyporeflexia, seizures, aberrant behavior, atrophy…”
Get full text
Journal Article -
7
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
Get full text
Journal Article -
8
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (03-10-2019)Get full text
Journal Article -
9
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T
Published in Gene (15-02-2014)“…Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary…”
Get full text
Journal Article -
10
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases
Published in Genome Biology (26-06-2015)“…To understand the contribution of Mendelian mutations to the burden of undiagnosed diseases that are suspected to be genetic in origin, we developed a…”
Get full text
Journal Article -
11
Guillain-Barré syndrome after cyclospora infection
Published in Muscle & nerve (01-05-1998)“…We present a patient who developed Guillain–Barré syndrome (GBS) after a Cyclospora‐induced diarrheal illness. We raise the possibility that Cyclospora is an…”
Get full text
Journal Article -
12
Total innervation of the extensor digitorum brevis by the accessory deep peroneal nerve
Published in European journal of neurology (01-05-1999)“…We deseribe a patient with complete (100%) innervation of the extensor digitorum brevis muscle by the accessory deep peroneal nerve, which resulted in an…”
Get full text
Journal Article -
13
Guillain-Barr syndrome aftercyclospora infection
Published in Muscle & nerve (01-05-1998)Get full text
Journal Article -
14
Total innervation of the extensor digitorum brevis by the accessory deep peroneal nerve
Published in European Journal of Neurology (01-05-1999)Get full text
Report