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Free accessResearch articleFirst published September 28, 2021

Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report

Ana Ortiz-Santiago, Edwardo Ramos

Journal of Pediatric Rehabilitation Medicine

Retricted accessOtherFirst published January, 2011

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

Carlo Fusco, Valentina Ucchino, Giovanni Barbon [...]

Journal of Child Neurology

Available accessResearch articleFirst published November, 2023

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families

Muhammad Asif, Chien-Chun Chiou, Malik Fiaz Hussain [...]

DNA and Cell Biology

Open accessResearch articleFirst published 2024

The Role of MIEF2 in Cisplatin Sensitivity in KIRP Patients: Insights from Four-gene Mitochondrial Fusion RNA Markers

Yusong Hou, Longyang Jiang, Jing Liu [...]

Technology in Cancer Research & Treatment

Open accessResearch articleFirst published January 2, 2024

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam [...]

Journal of Neuromuscular Diseases

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Articles (5)

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1-5 of 5 results for GDAP1

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Free accessResearch articleFirst published September 28, 2021

Childhood onset homozygous recessive GDAP1 (p.Pro231Leu) mutation in a 9-year-old puerto rican pediatric female with axonal Charcot-Marie-Tooth disease: A case report

Ana Ortiz-Santiago, Edwardo Ramos

Journal of Pediatric Rehabilitation Medicine

Retricted accessOtherFirst published January, 2011

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

Carlo Fusco, Valentina Ucchino, Giovanni Barbon [...]

Journal of Child Neurology

Available accessResearch articleFirst published November, 2023

Homozygous Mutations in GDAP1 and MFN2 Genes Resulted in Autosomal Recessive Forms of Charcot–Marie–Tooth Disease in Consanguineous Pakistani Families

Muhammad Asif, Chien-Chun Chiou, Malik Fiaz Hussain [...]

DNA and Cell Biology

Open accessResearch articleFirst published 2024

The Role of MIEF2 in Cisplatin Sensitivity in KIRP Patients: Insights from Four-gene Mitochondrial Fusion RNA Markers

Yusong Hou, Longyang Jiang, Jing Liu [...]

Technology in Cancer Research & Treatment

Open accessResearch articleFirst published January 2, 2024

Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand

Pimchanok Kulsirichawaroj, Yanin Suksangkharn, Da Eun Nam [...]

Journal of Neuromuscular Diseases