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Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Parkinsonism & related disorders, 2024-03, Vol.120, p.105460-105460, Article 105460

2024

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Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability

Clinical genetics, 2015-09, Vol.88 (3), p.300-302

2015

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Degeneration and regeneration of axons in the lesioned spinal cord

Physiological reviews, 1996-04, Vol.76 (2), p.319-370

1996

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Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

Journal of medical genetics, 2009-03, Vol.46 (3), p.192-197

2009

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Génétique médicale: Copy number variants (CNV)

Forum médical suisse (En ligne), 2008-12, Vol.8 (51)

Bartholdi, D

2008

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Génétique médicale: gènes, science, financement

Forum médical suisse (En ligne), 2010-01, Vol.10 (1)

2010

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Medizinische Genetik: Copy number variants (CNV)

Swiss medical forum, 2008-12, Vol.8 (51)

Bartholdi, D

2008

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Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

American journal of human genetics, 2005-04, Vol.76 (4), p.572-580

2005

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Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis

Journal of neurology, 2004-01, Vol.251 (1), p.105

2004

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Medizinische Genetik: Geld, Geist und Gene

Swiss medical forum, 2010-01, Vol.10 (1)

2010

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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Journal of medical genetics, 2007-05, Vol.44 (5), p.327-333

2007

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Expression of Pro-Inflammatory Cytokine and Chemokine mRNA Upon Experimental Spinal Cord Injury in Mouse: an In Situ Hybridization Study

The European journal of neuroscience, 1997-07, Vol.9 (7), p.1422-1438

1997

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Northern Epilepsy: Not So Northern Anymore

Neuropediatrics, 2017, Vol.48 (S 01), p.S1-S45

2017

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Spinal phenotype of cerebrotendinous xanthomatosis

Journal of neurology, 2004-01, Vol.251 (1), p.105-107

2004

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Identification of the genetic defect in the original Wagner syndrome family

Molecular vision, 2006-04, Vol.12, p.350-355

2006

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The Promoters of the Survival Motor Neuron Gene ( SMN) and Its Copy ( SMNc) Share Common Regulatory Elements

American journal of human genetics, 1999-05, Vol.64 (5), p.1365-1370

1999

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Methylprednisolone inhibits early inflammatory processes but not ischemic cell death after experimental spinal cord lesion in the rat

Brain research, 1995-02, Vol.672 (1), p.177-186

1995

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VEGF mRNA Induction Correlates With Changes in the Vascular Architecture Upon Spinal Cord Damage in the Rat

The European journal of neuroscience, 1997-12, Vol.9 (12), p.2549-2560

1997

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Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome

European journal of human genetics : EJHG, 2005-03, Vol.13 (3), p.273-277

2005

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Oligodendroglial reaction following spinal cord injury in rat: Transient upregulation of MBP mRNA

Glia, 1998-07, Vol.23 (3), p.278-284

1998

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Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

Clinical genetics, 2006-04, Vol.69 (4), p.319-326

2006

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Gomez-Lopez-Hernandez Syndrome: An easily missed diagnosis

Neuropediatrics, 2008, Vol.39 (1)

2008

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Viper snakebite causing symptomatic intracerebral haemorrhage

Journal of neurology, 2004-07, Vol.251 (7), p.889-891

2004

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Experimental Listeria meningoencephalitis. Macrophage inflammatory protein-1 alpha and -2 are produced intrathecally and mediate chemotactic activity in cerebrospinal fluid of infected mice

The Journal of immunology (1950), 1995-11, Vol.155 (9), p.4367-4375

1995

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OHDO SYNDROME IN A BOY WITH TERMINAL DELETION OF 4q AND DUPLICATION OF 10q

Neuropediatrics, 2006, Vol.37 (S 1)

2006

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Late adult-onset Niemann Pick type C (NPC): An “atypical” typical presentation at the age of 62

Expanding the phenotype of a recurrent de novo variant in PACS1 causing intellectual disability

Degeneration and regeneration of axons in the lesioned spinal cord

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver–Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes

Génétique médicale: Copy number variants (CNV)

Génétique médicale: gènes, science, financement

Medizinische Genetik: Copy number variants (CNV)

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Spinal phenotype of cerebrotendinous xanthomatosis--a pitfall in the diagnosis of multiple sclerosis

Medizinische Genetik: Geld, Geist und Gene

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Expression of Pro-Inflammatory Cytokine and Chemokine mRNA Upon Experimental Spinal Cord Injury in Mouse: an In Situ Hybridization Study

Northern Epilepsy: Not So Northern Anymore

Spinal phenotype of cerebrotendinous xanthomatosis

Identification of the genetic defect in the original Wagner syndrome family

The Promoters of the Survival Motor Neuron Gene ( SMN) and Its Copy ( SMNc) Share Common Regulatory Elements

Methylprednisolone inhibits early inflammatory processes but not ischemic cell death after experimental spinal cord lesion in the rat

VEGF mRNA Induction Correlates With Changes in the Vascular Architecture Upon Spinal Cord Damage in the Rat

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome

Oligodendroglial reaction following spinal cord injury in rat: Transient upregulation of MBP mRNA

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene

Gomez-Lopez-Hernandez Syndrome: An easily missed diagnosis

Viper snakebite causing symptomatic intracerebral haemorrhage

Experimental Listeria meningoencephalitis. Macrophage inflammatory protein-1 alpha and -2 are produced intrathecally and mediate chemotactic activity in cerebrospinal fluid of infected mice

OHDO SYNDROME IN A BOY WITH TERMINAL DELETION OF 4q AND DUPLICATION OF 10q

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