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Management of neuronopathic Gaucher disease: Revised recommendations

Journal of inherited metabolic disease, 2009-10, Vol.32 (5), p.660-664

2009

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Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with “normal” serum B12 levels

Journal of neurology, neurosurgery and psychiatry, 2010-12, Vol.81 (12), p.1369-1371

2010

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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

The New England journal of medicine, 1998-04, Vol.338 (16), p.1119-1127

1998

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Virulence, sporulation, and elicitin production in three clonal lineages of Phytophthora ramorum

Physiological and molecular plant pathology, 2010-09, Vol.74 (5), p.317-322

2010

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GM2 Gangliosidosis in British Jacob Sheep

Journal of comparative pathology, 2014-02, Vol.150 (2-3), p.253-257

2014

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Pathology of GM2 gangliosidosis in Jacob sheep

Veterinary pathology, 2011-07, Vol.48 (4), p.807

2011

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Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Genetics in medicine, 2005-02, Vol.7 (2), p.119-123

2005

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Long-term follow-up after gene therapy for canavan disease

Science translational medicine, 2012-12, Vol.4 (165), p.165ra163

2012

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Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

Pain (Amsterdam), 2000-02, Vol.84 (2-3), p.361-365

2000

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Stereotactic ventral pallidotomy for Parkinson's disease

Neurology, 1995-04, Vol.45 (4), p.753

1995

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Quantitative Thermal Perception Testing in Adults

Journal of clinical neurophysiology, 1999-09, Vol.16 (5), p.462-462

1999

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A neurological symptom survey of patients with type I Gaucher disease

Journal of inherited metabolic disease, 2003-01, Vol.26 (7), p.641-645

2003

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Spontaneous appearance of Tay–Sachs disease in an animal model

Molecular genetics and metabolism, 2008-09, Vol.95 (1), p.59-65

2008

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Neuropsychological assessment of patients with late onset GM2 gangliosidosis

Neurology, 2004-06, Vol.62 (12), p.2283

2004

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Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Neuron (Cambridge, Mass.), 1996-09, Vol.17 (3), p.451-460

1996

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Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.817-817

2007

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P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.755-756

2013

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P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.755-755

2013

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Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Neurology, 2000-10, Vol.55 (8), p.1089

2000

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Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease

Journal of inherited metabolic disease, 2002-11, Vol.25 (7), p.557-570

2002

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Autogenous bone augmentation for vertical defects in a severely resorbed mandible: case report of five year follow-up with dental implants

International journal of oral and maxillofacial surgery, 2011, Vol.40 (10), p.1139-1139

2011

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Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson’s disease

Neuroscience, 2002-01, Vol.113 (3), p.629-640

2002

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Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.156-163

2006

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Bone marrow–derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

Experimental hematology, 1999-11, Vol.27 (11), p.1675-1681

1999

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Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

American journal of human genetics, 1996-12, Vol.59 (6), p.1233-1242

1996

Volltextzugriff (PDF)

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Management of neuronopathic Gaucher disease: Revised recommendations

Vitamin B12-responsive severe leukoencephalopathy and autonomic dysfunction in a patient with “normal” serum B12 levels

Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy

Virulence, sporulation, and elicitin production in three clonal lineages of Phytophthora ramorum

GM2 Gangliosidosis in British Jacob Sheep

Pathology of GM2 gangliosidosis in Jacob sheep

Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients

Long-term follow-up after gene therapy for canavan disease

Lower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patients

Stereotactic ventral pallidotomy for Parkinson's disease

Quantitative Thermal Perception Testing in Adults

A neurological symptom survey of patients with type I Gaucher disease

Spontaneous appearance of Tay–Sachs disease in an animal model

Neuropsychological assessment of patients with late onset GM2 gangliosidosis

Clinical Phenotypes of Different MPZ (P 0) Mutations May Include Charcot–Marie–Tooth Type 1B, Dejerine–Sottas, and Congenital Hypomyelination

Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties

P.3.2 Characterization of strength and function in adults with inclusion body myopathy (HIBM)/GNE myopathy

P.3.1 GNE myopathy functional activity scale (GNEM-FAS): Development of a disease-specific instrument for measuring function and independence

Mutations in noncoding regions of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease

Autogenous bone augmentation for vertical defects in a severely resorbed mandible: case report of five year follow-up with dental implants

Therapeutic effects of astrocytes expressing both tyrosine hydroxylase and brain-derived neurotrophic factor on a rat model of Parkinson’s disease

Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease

Bone marrow–derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases

Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy

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