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Salmo Raskin Selected Research

Atelosteogenesis type 2

8/2013A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia.

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Salmo Raskin Research Topics

Disease

3Cerebellar Ataxia (Dysmetria)
06/2018 - 09/2008
3Spinocerebellar Ataxias (Spinocerebellar Ataxia)
03/2014 - 09/2008
2Spinocerebellar Ataxia 10
03/2014 - 06/2010
2Diastrophic dysplasia
08/2013 - 01/2013
2Cystic Fibrosis (Mucoviscidosis)
09/2003 - 01/2003
1COVID-19
07/2021
1Cleft Palate (Palate, Cleft)
07/2020
1Rupture
07/2020
1Progressive Myoclonic Epilepsies (Progressive Myoclonic Epilepsy)
01/2020
1Trichothiodystrophy Syndromes
12/2018
1Hypogonadism (Hypergonadotropic Hypogonadism)
06/2018
1Oliver-McFarlane syndrome
06/2018
1Cerebellar Ataxia and Hypogonadotropic Hypogonadism
06/2018
1Ataxia (Dyssynergia)
06/2018
1Hereditary Spastic Paraplegia
06/2018
1Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
06/2018
1Middle Lobe Syndrome (Brocks Syndrome)
11/2017
1Hypersensitivity (Allergy)
01/2017
1Language Development Disorders (Semantic-Pragmatic Disorder)
12/2015
1Chromosome Deletion (Deletion, Chromosome)
05/2014
1Neurodegenerative Diseases (Neurodegenerative Disease)
03/2014
1Hepatolenticular Degeneration (Wilson's Disease)
08/2013
1Achondrogenesis
08/2013
1Atelosteogenesis type 2
08/2013
1Neural Tube Defects (Exencephaly)
07/2013
1Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
01/2013
1Familial paroxysmal dystonia
11/2012
1Trisomy (Trisomies)
09/2011
1Asperger Syndrome (Asperger's Syndrome)
09/2011
1Tremor (Tremors)
01/2011
1Metabolic Bone Diseases (Osteopenia)
11/2010
1Hypercalcemia (Milk Alkali Syndrome)
11/2010
1Nephrolithiasis
11/2010
1Chorea (Rheumatic Chorea)
10/2009
1Neuroacanthocytosis
10/2009
1Parkinsonian Disorders (Parkinsonism)
04/2009
1Parkinson Disease (Parkinson's Disease)
01/2008
1Sotos Syndrome
09/2005
1Cerebrotendinous Xanthomatosis
12/2004
1Clinical Deterioration
09/2003
1Infections
09/2003
1Abnormal Reflex (Hyperreflexia)
08/2003
1Dystonia (Limb Dystonia)
08/2003

Drug/Important Bio-Agent (IBA)

3Proteins (Proteins, Gene)FDA Link
07/2021 - 11/2012
2Ataxin-10IBA
03/2014 - 06/2010
2Sulfate TransportersIBA
08/2013 - 01/2013
1VaccinesIBA
07/2021
1Polychlorinated Dibenzodioxins (TCDD)IBA
07/2020
1polyglutamineIBA
01/2020
1Transcription Factor TFIIHIBA
12/2018
16-bromo-2-naphthyl sulfate (BNS)IBA
06/2018
1Retinaldehyde (Retinal)IBA
06/2018
1Nonsense Codon (Nonsense Mutation)IBA
11/2017
1UbiquitinIBA
12/2015
1Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA
12/2015
1Neurotransmitter Agents (Neurotransmitter)IBA
05/2014
1PENTAIBA
03/2014
1CopperIBA
08/2013
1Folic Acid (Vitamin M)FDA LinkGeneric
07/2013
1SteroidsIBA
01/2013
1Proline (L-Proline)FDA Link
11/2012
1Genetic Markers (Genetic Marker)IBA
09/2011
1Propranolol (Inderal)FDA LinkGeneric
01/2011
1Parathyroid Hormone (Parathormone)IBA
11/2010
1Heterogeneous-Nuclear Ribonucleoprotein KIBA
06/2010
1Small Interfering RNA (siRNA)IBA
06/2010
1Caspase 3 (Caspase-3)IBA
06/2010
1Oral ContraceptivesIBA
10/2009
1Calcium Channels (Calcium Channel)IBA
09/2008
1Phosphotransferases (Kinase)IBA
01/2008
1Leucine (L-Leucine)FDA Link
01/2008
1Blood Coagulation Factors (Coagulation Factor)IBA
09/2005
1LipidsIBA
12/2004
1AcidsIBA
12/2004
1Cholestanetriol 26-Monooxygenase (Cholestanetriol 26 Monooxygenase)IBA
12/2004
1ChloridesIBA
09/2003
1Levodopa (L Dopa)FDA LinkGeneric
08/2003
1Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA
01/2003

Therapy/Procedure

1Dental Prophylaxis
01/2017
1Pallidotomy
04/2009