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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

American journal of human genetics, 2012-06, Vol.90 (6), p.1102-1107

2012

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SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

Proceedings of the National Academy of Sciences - PNAS, 2017-03, Vol.114 (12), p.E2347-E2356

2017

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

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Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Human molecular genetics, 2014-04, Vol.23 (8), p.2005-2022

2014

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Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency

Clinical chemistry (Baltimore, Md.), 2015-02, Vol.61 (2), p.412-419

2015

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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

American journal of human genetics, 2012-07, Vol.91 (1), p.202-208

2012

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Parkin Is a Component of an SCF-like Ubiquitin Ligase Complex and Protects Postmitotic Neurons from Kainate Excitotoxicity

Neuron (Cambridge, Mass.), 2003-03, Vol.37 (5), p.735-749

2003

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Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

PloS one, 2012-01, Vol.7 (1), p.e29729-e29729

2012

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Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

PloS one, 2011-02, Vol.6 (2), p.e17118-e17118

2011

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Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

PloS one, 2012-06, Vol.7 (6), p.e38310-e38310

2012

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Increased systemic HSP70B levels in spinal muscular atrophy infants

Annals of clinical and translational neurology, 2021-07, Vol.8 (7), p.1495-1501

2021

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Tumorigenesis and neurodegeneration: two sides of the same coin

BioEssays, 2008-08, Vol.30 (8), p.719-727

Staropoli, John F

2008

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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Science translational medicine, 2017-04, Vol.9 (385)

2017

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Practical Murine Hematopathology: A Comparative Review and Implications for Research

Comparative medicine, 2015-04, Vol.65 (2), p.96-113

2015

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Cord Formation in a Clinical Isolate of Mycobacterium marinum

Journal of Clinical Microbiology, 2008-08, Vol.46 (8), p.2814-2816

2008

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An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

BMC medical genetics, 2012-06, Vol.13 (1), p.50-50

2012

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Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Human molecular genetics, 2013-04, Vol.22 (7), p.1417-1423

2013

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Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

Acta neuropathologica, 2016-04, Vol.131 (4), p.621-637

2016

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Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Current neurology and neuroscience reports, 2013-08, Vol.13 (8), p.366-366, Article 366

2013

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Redefining the MED13L syndrome

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1308-1317

2015

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-10, Vol.89 (4), p.589-589

2011

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Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7

Genomics (San Diego, Calif.), 2015-04, Vol.105 (4), p.220-228

2015

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Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Neurology, 2016-08, Vol.87 (6), p.579

2016

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Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Parkin Is a Component of an SCF-like Ubiquitin Ligase Complex and Protects Postmitotic Neurons from Kainate Excitotoxicity

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system

Increased systemic HSP70B levels in spinal muscular atrophy infants

Tumorigenesis and neurodegeneration: two sides of the same coin

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

Practical Murine Hematopathology: A Comparative Review and Implications for Research

Cord Formation in a Clinical Isolate of Mycobacterium marinum

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation

Correction: Mutations in the Gene DNAJC5 Cause Autosomal Dominant Kufs Disease in a Proportion of Cases: Study of the Parry Family and 8 Other Families

Neuronal Ceroid Lipofuscinosis: Impact of Recent Genetic Advances and Expansion of the Clinicopathologic Spectrum

Redefining the MED13L syndrome

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

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