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Neuronal Loss and Brain Atrophy in Mice Lacking Cathepsins B and L

Proceedings of the National Academy of Sciences - PNAS, 2002-06, Vol.99 (12), p.7883-7888

2002

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Corrigendum to “Recently Identified Congenital Myopathies” [Semin Pediatr Neurol 29 (2019) 83-90]

Seminars in pediatric neurology, 2019-12, Vol.32, p.100775-100775, Article 100775

2019

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Muscle disease: pathology and genetics

Second edition., 2013

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Anna Fidzianska (1930–2015)

Neuromuscular disorders : NMD, 2016-09, Vol.26 (9), p.634-635

2016

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Topical Review: The Neuronal Ceroid-Lipofuscinoses

Journal of Child Neurology, 1995-11, Vol.10 (6), p.424-437

Goebel, Hans H.

1995

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Phenotype of Arylsulfatase A-Deficient Mice: Relationship to Human Metachromatic Leukodystrophy

Proceedings of the National Academy of Sciences - PNAS, 1996-12, Vol.93 (25), p.14821-14826

1996

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Myositis non-inflammatory mechanisms: An up-dated review

Journal of immunoassay & immunochemistry, 2017, Vol.38 (2), p.115-126

2017

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20th Anniversary Meeting of the Meryon Society Worcester College, Oxford

Neuromuscular disorders : NMD, 2017-03, Vol.27 (3), p.298-303

Goebel, Hans H

2017

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Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

Neuromuscular disorders : NMD, 2014-12, Vol.24 (12), p.1122-1122

2014

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TPM2 mutation

Neuromuscular disorders : NMD, 2008-12, Vol.18 (12), p.1005-1005

2008

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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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Autophagic vacuolar myopathy is a common feature of CLN 3 disease

Annals of clinical and translational neurology, 2018-11, Vol.5 (11), p.1385-1393

2018

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Macrophagic myofasciitis in a 3-month-old child

Journal of pediatric neurology, 2015-07, Vol.2 (4), p.225-229

2015

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Introduction

Seminars in pediatric neurology, 2019-04, Vol.29, p.1-2

Goebel, Hans H.

2019

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156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2008-07, Vol.18 (7), p.583-592

2008

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Introduction

Seminars in pediatric neurology, 2019-04, Vol.29, p.1-2

Goebel, Hans H

2019

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Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, The Netherlands

Neuromuscular disorders : NMD, 2002-10, Vol.12 (7), p.687-692

2002

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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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Muscle disease: pathology and genetics

2nd ed., 2013

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Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy

Journal of child neurology, 2006-06, Vol.21 (6), p.545-545

2006

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Introduction

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.213-215

Goebel, Hans H.

2011

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Introduction

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.480-482

Goebel, Hans H.

2009

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Introduction

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.480-482

Goebel, Hans H.

2009

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Introduction

Brain pathology (Zurich, Switzerland), 2009-07, Vol.19 (3), p.480-482

Goebel, Hans H.

2009

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Introduction

Brain pathology (Zurich, Switzerland), 2009-06, Vol.19 (3), p.480-482

Goebel, Hans H.

2009

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Neuronal Loss and Brain Atrophy in Mice Lacking Cathepsins B and L

Corrigendum to “Recently Identified Congenital Myopathies” [Semin Pediatr Neurol 29 (2019) 83-90]

Muscle disease: pathology and genetics

Anna Fidzianska (1930–2015)

Topical Review: The Neuronal Ceroid-Lipofuscinoses

Phenotype of Arylsulfatase A-Deficient Mice: Relationship to Human Metachromatic Leukodystrophy

Myositis non-inflammatory mechanisms: An up-dated review

20th Anniversary Meeting of the Meryon Society Worcester College, Oxford

Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: A novel gene related to nuclear envelopathies

TPM2 mutation

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

Autophagic vacuolar myopathy is a common feature of CLN 3 disease

Macrophagic myofasciitis in a 3-month-old child

Introduction

156th ENMC International Workshop: Desmin and protein aggregate myopathies, 9–11 November 2007, Naarden, The Netherlands

Introduction

Desmin – Protein Surplus Myopathies, 96th European Neuromuscular Centre (ENMC)-sponsored International Workshop held 14–16 September 2001, Naarden, The Netherlands

Protein surplus myopathies and other rare congenital myopathies

Muscle disease: pathology and genetics

Patient With Actin Aggregate Myopathy and Not Formerly Identified ACTA1 Mutation Is Heterozygous for the Gly15Arg Mutation of ACTA1, Which Has Previously Been Associated With Actinopathy

Introduction

Introduction

Introduction

Introduction

Introduction

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