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Simona Bianconi

Showing results (21-30 of 31) with videos related to

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Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
The Journal of Clinical Investigation|January 18, 2024
Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome modelKristin Gabor, Emily V Mesev, Jennifer Madenspacher, et al.
Journal of Child Neurology|June 17, 2025
Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity ScaleCristan Farmer, Monica Lewis, Nicole Farhat, et al.
The Lancet. Neurology|July 7, 2014
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studySondra W Levin, Eva H Baker, Wadih M Zein, et al.
Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Journal of Proteome Research|July 9, 2025
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz SyndromeWenping Li, Melissa R Pergande, Fidel Serna-Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2021
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease modelMark D Levin, Simona Bianconi, Andrew Smith, et al.
Lancet (London, England)|August 15, 2017
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trialDaniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, et al.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

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Pageof 4
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
The Journal of Clinical Investigation|January 18, 2024
Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome modelKristin Gabor, Emily V Mesev, Jennifer Madenspacher, et al.
Journal of Child Neurology|June 17, 2025
Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity ScaleCristan Farmer, Monica Lewis, Nicole Farhat, et al.
The Lancet. Neurology|July 7, 2014
Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot studySondra W Levin, Eva H Baker, Wadih M Zein, et al.
Molecular Genetics and Metabolism Reports|September 4, 2023
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiencySamar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Molecular Genetics and Metabolism Reports|December 6, 2023
Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency"Samar Rahhal, Cristan Farmer, Audrey Thurm, et al.
Journal of Proteome Research|July 9, 2025
Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz SyndromeWenping Li, Melissa R Pergande, Fidel Serna-Perez, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2021
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease modelMark D Levin, Simona Bianconi, Andrew Smith, et al.
Lancet (London, England)|August 15, 2017
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trialDaniel S Ory, Elizabeth A Ottinger, Nicole Yanjanin Farhat, et al.
American Journal on Intellectual and Developmental Disabilities|November 19, 2020
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental DisordersCristan A Farmer, Aaron J Kaat, Audrey Thurm, et al.
Pageof 4