Pedro A Sanchez-Lara
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Explore the profile of Pedro A Sanchez-Lara including associated specialties, affiliations and a list of published articles.
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87
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1610
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Recent Articles
1.
Cuinat S, Rollier P, Grand K, Sanchez-Lara P, Allen-Sharpley M, Levade T, et al.
Neurol Genet
. 2025 Feb;
11(2):e200243.
PMID: 40017560
Background And Objectives: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) due to acid ceramidase deficiency is a rare disorder, allelic with Farber disease, resulting from recessive variants. Patients present...
2.
Shin J, Shin H, Gutierrez A, Yoo N, Par-Young J, Osmani L, et al.
EBioMedicine
. 2025 Feb;
112:105578.
PMID: 39891996
Background: The 17q12 deletion syndrome (17q12DS) is a heterozygous deletion of a 1.4 megabase‒spanning DNA sequence on chromosome 17. The clinical characteristics of 17q12DS include neurodevelopmental disorders, kidney and urinary...
3.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
Ann Neurol
. 2024 Sep;
PMID: 39301775
Objective: De novo variants in cullin-3 ubiquitin ligase (CUL3) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed...
4.
Eliav T, Kuruppu D, Sanchez-Lara P, Grand K, Schweiger B, Allen-Sharpley M
Pediatrics
. 2024 Aug;
154(3).
PMID: 39091240
We describe the clinical presentation and evaluation of a 10-year-old boy who presented to our medical center with years of progressive proximal muscle weakness, muscle atrophy, and weight loss. In...
5.
Blackburn P, Ebstein F, Hsieh T, Motta M, Radio F, Herkert J, et al.
medRxiv
. 2023 Jul;
PMID: 37398376
Purpose: variants in (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic...
6.
Xie L, McDaniel M, Perszyk R, Kim S, Cappuccio G, Shapiro K, et al.
Cell Mol Life Sci
. 2023 Mar;
80(4):110.
PMID: 37000222
The short pre-M1 helix within the S1-M1 linker (also referred to as the pre-M1 linker) between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the NMDA receptor...
7.
Markush D, Sanchez-Lara P, Grand K, Wong R, Garg R
Pediatr Cardiol
. 2023 Feb;
44(4):946-950.
PMID: 36790509
Supravalvar aortic stenosis (SVAS) is a less common but clinically important form of left ventricular outflow tract obstruction, and commonly associated with Williams syndrome (WS). SVAS outside of WS may...
8.
Ishida M, Otero M, Freeman C, Sanchez-Lara P, Guardia C, Pierson T, et al.
Hum Mol Genet
. 2022 Nov;
32(7):1162-1174.
PMID: 36345169
ADP-ribosylation factor 1 (ARF1) is a small GTPase that regulates membrane traffic at the Golgi apparatus and endosomes through recruitment of several coat proteins and lipid-modifying enzymes. Here, we report...
9.
Lee M, McDowell G, De Vivo D, Friedman D, Berkovic S, Spanou M, et al.
Ann Clin Transl Neurol
. 2022 Nov;
9(12):1941-1952.
PMID: 36325744
Objective: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and to determine if aberrant cellular ceramide...
10.
Kim R, Ye X, Sanchez-Lara P, Puliyanda D, Kumar S, Pizzo H
Pediatr Nephrol
. 2022 Oct;
38(7):2079-2081.
PMID: 36315276
No abstract available.