Alejandro Cuzcano-Estrada

Antwerpen, VLG 2610, Belgium

Last Updated: 09/26/2026

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Found 13 publications

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.

Journal: International journal of molecular sciences

Published: July 18, 2024

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.

Journal: International journal of molecular sciences

Published: March 31, 2023

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.

Journal: Molecular genetics & genomic medicine

Published: March 12, 2021

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.

Journal: Human mutation

Published: March 20, 2019

Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification

Detection of mutations causing Duchenne and Becker muscular dystrophies: multiplex polymerase chain reaction vs. Multiplex ligation dependent probe amplification

Journal: Revista peruana de medicina experimental y salud publica

Published: November 26, 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Journal: Brain : a journal of neurology

Published: February 08, 2017

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Journal: Brain : a journal of neurology

Published: July 12, 2016

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy.

Journal: Neurology

Published: June 13, 2016

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 13, 2015

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

Journal: Investigative ophthalmology & visual science

Published: June 22, 2013

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Journal: Archives of ophthalmology (Chicago, Ill. : 1960)

Published: November 13, 2012

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Journal: PloS one

Published: September 25, 2012

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Last Updated: 09/26/2026