Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

Mapping Intimacies ◽

10.1111/cge.13829/v1/review2 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v1/review1 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis

Clinical Genetics ◽

10.1111/cge.13829 ◽

2020 ◽

Vol 99 (1) ◽

pp. 111-118

Author(s):

Nima Naseri ◽

Manu Sharma ◽

Milen Velinov

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Author response for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v2/response1 ◽

2020 ◽

Author(s):

Nima Naseri ◽

Manu Sharma ◽

Milen Velinov

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Author Response ◽

Ceroid Lipofuscinosis

Download Full-text

Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v3/decision1 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v2/review1 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v1/decision1 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Author response for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v3/response1 ◽

2020 ◽

Author(s):

Nima Naseri ◽

Manu Sharma ◽

Milen Velinov

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Author Response ◽

Ceroid Lipofuscinosis

Download Full-text

Review for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v2/review2 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Decision letter for "Autosomal dominant neuronal ceroid lipofuscinosis ‐ clinical features and molecular basis"

10.1111/cge.13829/v2/decision1 ◽

2020 ◽

Keyword(s):

Clinical Features ◽

Molecular Basis ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis

Download Full-text

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

European Journal of Human Genetics ◽

10.1038/s41431-019-0567-2 ◽

2020 ◽

Vol 28 (6) ◽

pp. 783-789 ◽

Author(s):

Ivana Jedličková ◽

◽

Maxime Cadieux-Dion ◽

Anna Přistoupilová ◽

Viktor Stránecký ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Dominant ◽

Neuronal Ceroid Lipofuscinosis ◽

Ceroid Lipofuscinosis ◽

Download Full-text