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Current State of Clinical and Morphological Features in Human NCL

Brain pathology (Zurich, Switzerland), 2004-01, Vol.14 (1), p.61-69

2004

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Diagnosis of the neuronal ceroid lipofuscinoses: An update

Biochimica et biophysica acta, 2006-10, Vol.1762 (10), p.865-872

2006

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Protein Aggregation in Congenital Myopathies

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.272-276

2011

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169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2011-05, Vol.21 (5), p.363-374

2011

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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Neuromuscular disorders : NMD, 2016-03, Vol.26 (3), p.236-239

2016

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Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Neuromuscular disorders : NMD, 2004-09, Vol.14 (8), p.461-470

2004

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Protein surplus myopathies and other rare congenital myopathies

Seminars in pediatric neurology, 2002-06, Vol.9 (2), p.160-170

2002

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Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Journal of child neurology, 2004-02, Vol.19 (2), p.149-153

2004

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Confirmation of Virtual Unmyelinated Fiber Absence in Hereditary Sensory Neuropathy Type IV

Journal of neuropathology and experimental neurology, 1980-11, Vol.39 (6), p.670-675

1980

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Immunolocalization of tenascin-C in human type II fiber atrophy

Journal of molecular neuroscience, 1999-08, Vol.13 (1-2), p.167-176

1999

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Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy

Journal of child neurology, 1993-04, Vol.8 (2), p.171-174

1993

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Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

Brain & development (Tokyo. 1979), 1995-03, Vol.17 (2), p.83-88

1995

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The neuronal ceroid-lipofuscinoses

Seminars in pediatric neurology, 1996-12, Vol.3 (4), p.270-278

Goebel, Hans H.

1996

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ULTRASTRUCTURE OF HUMAN AND EXPERIMENTAL EPENDYMOMAS: A Comparative Study

Journal of neuropathology and experimental neurology, 1972-01, Vol.31 (1), p.54-71

1972

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Congenital myopathies

Seminars in pediatric neurology, 1996-06, Vol.3 (2), p.152-161

Goebel, Hans H.

1996

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A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions

Brain & development (Tokyo. 1979), 1983, Vol.5 (3), p.292-301

1983

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EARLY LESION OF PELIZAEUS-MERZBACHER DISEASE: ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY

Journal of neuropathology and experimental neurology, 1973-04, Vol.32 (2), p.313-333

1973

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Dystrophinopathies

Seminars in pediatric neurology, 1996-06, Vol.3 (2), p.99-109

1996

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Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinoses

Brain & development (Tokyo. 1979), 1979, Vol.1 (4), p.285-292

1979

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Congenital muscular dystrophy (CMD) — A collagen formative disease?

Journal of the neurological sciences, 1982-07, Vol.55 (1), p.79-90

1982

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On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis

Mechanisms of ageing and development, 1979-04, Vol.10 (1), p.53-70

1979

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Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease)

Ophthalmologica (Basel), 1978-01, Vol.176 (2), p.61-68

1978

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Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

Genes chromosomes & cancer, 2005-08, Vol.43 (4), p.367-376

2005

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A sphenoorbital encephalocele--clinical, radiological, and morphological findings

Neurosurgical review, 1988-01, Vol.11 (2), p.205-206

1988

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Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis

American journal of medical genetics, 1995-06, Vol.57 (2), p.222-224

1995

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Current State of Clinical and Morphological Features in Human NCL

Diagnosis of the neuronal ceroid lipofuscinoses: An update

Protein Aggregation in Congenital Myopathies

169th ENMC International Workshop Rare Structural Congenital Myopathies 6–8 November 2009, Naarden, The Netherlands

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Genotype–phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle α-actin

Protein surplus myopathies and other rare congenital myopathies

Actin-Related Myopathy Without Any Missense Mutation in the ACTA1 Gene

Confirmation of Virtual Unmyelinated Fiber Absence in Hereditary Sensory Neuropathy Type IV

Immunolocalization of tenascin-C in human type II fiber atrophy

Ultrastructural Pathology of Eccrine Sweat Gland Epithelial Cells in Globoid Cell Leukodystrophy

Prenatal diagnosis of infantile neuronal ceroid-lipofuscinosis: a combined electron microscopic and molecular genetic approach

The neuronal ceroid-lipofuscinoses

ULTRASTRUCTURE OF HUMAN AND EXPERIMENTAL EPENDYMOMAS: A Comparative Study

Congenital myopathies

A morphological study of non-Japanese congenital muscular dystrophy associated with cerebral lesions

EARLY LESION OF PELIZAEUS-MERZBACHER DISEASE: ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY

Dystrophinopathies

Ultrastructural pathology of lymphocytes in neuronal ceroid-lipofuscinoses

Congenital muscular dystrophy (CMD) — A collagen formative disease?

On the ultrastructural diversity and essence of residual bodies in neuronal ceroid-lipofuscinosis

Ultrastructural observations on the retina in type II glycogenosis (Pompe's disease)

Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization

A sphenoorbital encephalocele--clinical, radiological, and morphological findings

Immunelectronmicroscopic characterization of T4 and T8 lymphocytes and natural killer cells in neuronal ceroid-lipofuscinosis

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