Chahnez Triki Selected Research

Complementary DNA (cDNA)

4/2011

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

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Chahnez Triki Research Topics

Disease

4	Rett Syndrome (Rett's Disorder) 12/2019 - 02/2009
3	Muscular Dystrophies (Muscular Dystrophy) 02/2008 - 01/2003
2	Intellectual Disability (Idiocy) 10/2023 - 01/2003
2	Brain Diseases (Brain Disorder) 10/2023 - 01/2021
2	Seizures (Absence Seizure) 08/2018 - 11/2007
2	Motor Skills Disorders (Motor Skills Disorder) 04/2016 - 12/2015
2	Limb-girdle muscular dystrophy type 2A 02/2012 - 04/2011
2	Leigh Disease (Leigh's Disease) 01/2011 - 07/2009
2	Mitochondrial Diseases (Mitochondrial Disease) 06/2010 - 04/2007
1	Epilepsy (Aura) 01/2024
1	Movement Disorders (Movement Disorder) 05/2023
1	Cerebellar Ataxia (Dysmetria) 12/2021
1	Microcephaly 12/2021
1	Mixed Conductive-Sensorineural Hearing Loss 12/2021
1	Ataxia with vitamin E deficiency 12/2021
1	Ganglion Cysts (Ganglion) 12/2021
1	Opsoclonus-Myoclonus Syndrome (Kinsbourne Syndrome) 10/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Neurocutaneous Syndromes (Phakomatoses) 12/2019
1	Tuberous Sclerosis (Bourneville's Disease) 12/2019
1	Infantile Spasms (West Syndrome) 02/2019
1	Congenital Ichthyosiform Erythroderma 01/2019
1	Chanarin-Dorfman Syndrome 01/2019
1	Metachromatic Leukodystrophy (Sulfatide Lipidosis) 09/2018
1	Demyelinating Diseases (Demyelinating Disease) 09/2018
1	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2018
1	Unconsciousness (Loss of Consciousness) 08/2018
1	Neurodevelopmental Disorders 11/2015
1	type 2C Limb-girdle muscular dystrophy 07/2012
1	Hearing Loss (Hearing Impairment) 12/2010
1	Ring Chromosome 20 Syndrome 11/2007
1	Hypertrophy 02/2004
1	Cysts 01/2003

Drug/Important Bio-Agent (IBA)

4	Proteins (Proteins, Gene)FDA Link 01/2021 - 02/2008
4	Messenger RNA (mRNA)IBA 02/2012 - 01/2007
3	Methyl-CpG-Binding Protein 2IBA 12/2019 - 02/2009
3	Leu Transfer RNAIBA 12/2010 - 04/2007
2	Carrier Proteins (Binding Protein)IBA 12/2019 - 11/2015
2	dicarboxydine (DCD)IBA 04/2016 - 12/2015
2	Adenosine Triphosphatases (ATPase)IBA 06/2010 - 07/2009
2	Laminin (Merosin)IBA 01/2007 - 01/2003
2	Creatine Kinase (Creatine Phosphokinase)IBA 02/2004 - 01/2003
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2024
1	Brain-Derived Neurotrophic Factor (BDNF)IBA 10/2023
1	TubulinIBA 10/2023
1	Tissue Plasminogen Activator (Alteplase)FDA Link 12/2021
1	Retinaldehyde (Retinal)IBA 12/2021
1	Vitamin E FDA LinkGeneric 12/2021
1	alpha-tocopherol transfer proteinIBA 12/2021
1	Lamotrigine (Lamictal)FDA LinkGeneric 10/2021
1	metabotropic glutamate receptor 7IBA 01/2021
1	LigandsIBA 01/2021
1	3-Oxo-5-alpha-Steroid 4-Dehydrogenase (Testosterone 5 alpha Reductase)IBA 01/2021
1	trans-sodium crocetinate (crocetin)IBA 12/2019
1	LipidsIBA 01/2019
1	Triglycerides (Triacylglycerol)IBA 01/2019
1	Sulfoglycosphingolipids (Sulfatides)IBA 09/2018
1	selenium disulfide (Head & Shoulders)FDA LinkGeneric 08/2018
1	Nonsense Codon (Nonsense Mutation)IBA 04/2011
1	Complementary DNA (cDNA)IBA 04/2011
1	RNA (Ribonucleic Acid)IBA 04/2011
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 01/2011
1	Ser Transfer RNAIBA 12/2010
1	Mitochondrial DNA (mtDNA)IBA 12/2010
1	12S ribosomal RNAIBA 12/2010
1	Val Transfer RNAIBA 07/2009
1	Trp Transfer RNA (tRNA(Trp))IBA 07/2009
1	Lys Transfer RNAIBA 07/2009

Therapy/Procedure

1	Transitional Care 05/2023
1	Therapeutics 11/2007