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Publications by H Cuppens

Mutations in L1-Cam in Two Families With X Linked Complicated Spastic Paraplegia, MASA Syndrome, and HSAS.

Journal of Medical Genetics

Genetics

1995

English

Recommendations for Quality Improvement in Genetic Testing for Cystic Fibrosis European Concerted Action on Cystic Fibrosis

European Journal of Human Genetics

Genetics

2000

English

Related publications

X-Linked Spastic Paraplegia Type 34

2020

English

X Linked Hydrocephalus and MASA Syndrome.

Journal of Medical Genetics

Genetics

1996

English

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery

English

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

American Journal of Human Genetics

Genetics

2019

English

GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus

Scientific Reports

Multidisciplinary

2015

English

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Journal of Medical Genetics

Genetics

1996

English

Hereditary Spastic Paraplegia-Causing Mutations in Atlastin-1 Interfere With BMPRII Trafficking

Molecular and Cellular Neurosciences

Molecular Neuroscience

English

Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

European Journal of Human Genetics

Genetics

2000

English

Mutation Analysis of Four Chinese Families With Pure Hereditary Spastic Paraplegia: Pseudo- X-Linked Dominant Inheritance and Male Lethality Due to a Novel ATL1 Mutation

Genetics and Molecular Research

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by H Cuppens

Mutations in L1-Cam in Two Families With X Linked Complicated Spastic Paraplegia, MASA Syndrome, and HSAS.

Recommendations for Quality Improvement in Genetic Testing for Cystic Fibrosis European Concerted Action on Cystic Fibrosis

Related publications

X-Linked Spastic Paraplegia Type 34

X Linked Hydrocephalus and MASA Syndrome.

Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

GPR143 Gene Mutations in Five Chinese Families With X-Linked Congenital Nystagmus

Five Novel Mutations in the L1CAM Gene in Families With X Linked Hydrocephalus.

Hereditary Spastic Paraplegia-Causing Mutations in Atlastin-1 Interfere With BMPRII Trafficking

Hereditary Spastic Paraplegia Caused by Mutations in the SPG4 Gene

Mutation Analysis of Four Chinese Families With Pure Hereditary Spastic Paraplegia: Pseudo- X-Linked Dominant Inheritance and Male Lethality Due to a Novel ATL1 Mutation