Alexander Kolevzon
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Explore the profile of Alexander Kolevzon including associated specialties, affiliations and a list of published articles.
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115
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6939
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Recent Articles
11.
Yin W, Pulakka A, Reichenberg A, Kolevzon A, Ludvigsson J, Risnes K, et al.
Lancet Reg Health Eur
. 2024 May;
40:100902.
PMID: 38689608
Background: Roughly more than one in six adults worldwide suffer from psychiatric conditions. Sporadic studies have associated parental psychiatric disorders with autism spectrum disorder in offspring. Comprehensively examining the association...
12.
Gizzo L, Bliss G, Palaty C, Kolevzon A
Orphanet J Rare Dis
. 2024 Mar;
19(1):134.
PMID: 38532502
Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by SHANK3 haploinsufficiency with clinical manifestations that can be devastating and profoundly affect quality of life. Results: The Externally Led Patient-Focused...
13.
Buxbaum Grice A, Sloofman L, Levy T, Walker H, Ganesh G, de Los Santos M, et al.
medRxiv
. 2024 Feb;
PMID: 38352457
Activity-dependent neuroprotective protein (ADNP) syndrome is a rare neurodevelopmental disorder resulting in intellectual disability, developmental delay and autism spectrum disorder (ASD) and is due to mutations in the gene. Ketamine...
14.
Frank Y, Levy T, Lozano R, Friedman K, Underwood S, Kostic A, et al.
J Child Neurol
. 2023 Oct;
38(13-14):665-671.
PMID: 37849292
Phelan-McDermid syndrome is a genetic disorder caused by haploinsufficiency of the gene on chromosome 22q13.3 and is characterized by autism spectrum disorder, intellectual disability, speech and language abnormalities, hypotonia, and...
15.
Ventola P, Jaeger J, Keary C, Kolevzon A, Adams M, Keshavan B, et al.
Eur J Paediatr Neurol
. 2023 Sep;
47:35-40.
PMID: 37688937
Purpose: Angelman Syndrome (AS) is a rare, severe neurogenetic disorder that causes symptoms such as intellectual disability and motor impairments and is typically diagnosed in early childhood. The complexity and...
16.
Keary C, Bird L, de Wit M, Hatti S, Heimer G, Heussler H, et al.
Eur J Paediatr Neurol
. 2023 Aug;
47:6-12.
PMID: 37639777
Purpose: To evaluate efficacy and safety of gaboxadol for treatment of children with Angelman syndrome (AS). Method: In this international, double-blind, phase 3 trial, we randomized children 4-12 years old...
17.
Frazier T, Busch R, Klaas P, Lachlan K, Jeste S, Kolevzon A, et al.
Am J Med Genet C Semin Med Genet
. 2023 Aug;
193(3):e32058.
PMID: 37534867
This study focused on the development and initial psychometric evaluation of a set of online, webcam-collected, and artificial intelligence-derived patient performance measures for neurodevelopmental genetic syndromes (NDGS). Initial testing and...
18.
Levy T, Pichardo T, Silver H, Lerman B, Zweifach J, Halpern D, et al.
Hum Genet
. 2023 Jul;
142(9):1385-1394.
PMID: 37454340
CHAMP1 disorder is a genetic neurodevelopmental condition caused by mutations in the CHAMP1 gene that result in premature termination codons. The disorder is associated with intellectual disability, medical comorbidities, and...
19.
Srivastava S, Sahin M, Buxbaum J, Berry-Kravis E, Soorya L, Thurm A, et al.
Am J Med Genet A
. 2023 Jul;
191(8):2015-2044.
PMID: 37392087
Phelan-McDermid syndrome (PMS) is a genetic condition caused by SHANK3 haploinsufficiency and characterized by a wide range of neurodevelopmental and systemic manifestations. The first practice parameters for assessment and monitoring...
20.
Frazier T, Busch R, Klaas P, Lachlan K, Jeste S, Kolevzon A, et al.
Am J Med Genet A
. 2023 Apr;
191(7):1741-1757.
PMID: 37045800
There are few well-validated measures that are appropriate for assessing the full range of neurobehavioral presentations in PTEN hamartoma tumor syndrome (PHTS) and other neurodevelopmental genetic syndromes (NDGS). As potential...