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Motile and non‐motile cilia in human pathology: from function to phenotypes

The Journal of pathology, 2017-01, Vol.241 (2), p.294-309

2017

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Motile cilia and airway disease

Seminars in cell & developmental biology, 2021-02, Vol.110, p.19-33

2021

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Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Cellular and molecular life sciences : CMLS, 2020-06, Vol.77 (11), p.2029-2048

2020

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Axonemal structures reveal mechanoregulatory and disease mechanisms

Nature (London), 2023-06, Vol.618 (7965), p.625-633

2023

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Primary ciliary dyskinesia: a big data genomics approach

The lancet respiratory medicine, 2022-05, Vol.10 (5), p.423-425

2022

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'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

Journal of health psychology, 2024-01, p.13591053231223912-13591053231223912

2024

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DYX1C1 is required for axonemal dynein assembly and ciliary motility

Nature genetics, 2013-09, Vol.45 (9), p.995-1003

2013

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Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Nature genetics, 2012-04, Vol.44 (4), p.381-389

2012

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Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Ultrastructural pathology, 2017-11, Vol.41 (6), p.415-427

2017

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Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Clinical genetics, 2020-03, Vol.97 (3), p.509-515

2020

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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Nature genetics, 2002-02, Vol.30 (2), p.143-144

2002

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Late onset neurodegeneration in the Cln3 −/− mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation

Brain research, 2004-10, Vol.1023 (2), p.231-242

2004

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Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

Journal of neuroscience research, 2006-10, Vol.84 (5), p.1124-1138

2006

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A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

Journal of biomolecular NMR, 2011-04, Vol.49 (3-4), p.175-184

2011

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Motile and non‐motile cilia in human pathology: from function to phenotypes

The Journal of pathology, 2017-03, Vol.241 (4), p.564-564

2017

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Retinal Pathology and Function in a Cln3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Molecular and cellular neuroscience, 2002-04, Vol.19 (4), p.515-527

2002

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Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Human mutation, 1999, Vol.14 (3), p.199-215

1999

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Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease

Molecular genetics and metabolism, 2003, Vol.78 (1), p.17-30

2003

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Strategies for data analyses in a high resolution 1H NMR based metabolomics study of a mouse model of Batten disease

Metabolomics, 2007-06, Vol.3 (2), p.121-136

2007

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Prenatal diagnosis of Batten's disease

The Lancet (British edition), 1996-04, Vol.347 (9007), p.1014-1015

1996

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Update on primary ciliary dyskinesia

Paediatrics and child health, 2017-07, Vol.27 (7), p.337-342

2017

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Motile and non‐motile cilia in human pathology: from function to phenotypes

Motile cilia and airway disease

Sperm defects in primary ciliary dyskinesia and related causes of male infertility

Axonemal structures reveal mechanoregulatory and disease mechanisms

Primary ciliary dyskinesia: a big data genomics approach

'Don't let it hold you back' - The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

DYX1C1 is required for axonemal dynein assembly and ciliary motility

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

Late onset neurodegeneration in the Cln3 −/− mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

Motile and non‐motile cilia in human pathology: from function to phenotypes

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Retinal Pathology and Function in a Cln3 Knockout Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Functional categorization of gene expression changes in the cerebellum of a Cln3-knockout mouse model for Batten disease

Strategies for data analyses in a high resolution 1H NMR based metabolomics study of a mouse model of Batten disease

Prenatal diagnosis of Batten's disease

Update on primary ciliary dyskinesia

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