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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Nature genetics, 2004-05, Vol.36 (5), p.449-451

2004

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Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

American journal of human genetics, 2003-11, Vol.73 (5), p.1106-1119

2003

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Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Annals of neurology, 2002-06, Vol.51 (6), p.709-715

2002

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Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

Nature genetics, 2005-12, Vol.37 (12), p.1312-1314

2005

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Brain (London, England : 1878), 2006-08, Vol.129 (8), p.2093-2102

2006

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Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Brain (London, England : 1878), 2003-03, Vol.126 (3), p.642-649

2003

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Correlation between the number of epineurial and endoneurial blood vessels in diseased human sural nerves

Acta neuropathologica, 2001-10, Vol.102 (4), p.364-372

2001

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Morphological spectrum and clinical features of myopathies with tubular aggregates

Histology and histopathology, 2013-08, Vol.28 (8), p.1041

2013

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X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations

Journal of the neurological sciences, 1999-08, Vol.167 (2), p.90-101

1999

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Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

Journal of the neurological sciences, 2001-11, Vol.192 (1), p.49-51

2001

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PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens : correlation to structural changes

Acta neuropathologica, 1998-07, Vol.96 (1), p.13-21

1998

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Correlation of muscle fiber type measurements with clinical and molecular genetic data in Duchenne muscular dystrophy

Neuromuscular disorders : NMD, 1999-05, Vol.9 (3), p.150-158

1999

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Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred

Neurology, 1979-08, Vol.29 (8), p.1144-1144

1979

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Number and size of epineurial blood vessels in normal and diseased human sural nerves

Cell and tissue research, 1997-10, Vol.290 (1), p.31-37

1997

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Developmental changes at the node and paranode in human sural nerves : morphometric and fine-structural evaluation

Cell and tissue research, 1993-09, Vol.273 (3), p.499-509

1993

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HLA-DR expression in peripheral neuropathies: the role of Schwann cells, resident and hematogenous macrophages, and endoneurial fibroblasts

Acta neuropathologica, 1995, Vol.89 (1), p.63-71

1995

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The role of Schwann cells in the formation of "onion bulbs" found in chronic neuropathies

Journal of neuropathology and experimental neurology, 1967-04, Vol.26 (2), p.276-299

1967

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The knowledge (“true belief”) error in 4- to 6-year-old children: When are agents aware of what they have in view?

Cognition, 2023-01, Vol.230, p.105255-105255, Article 105255

2023

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A switch in regulatory T cells through farm exposure during immune maturation in childhood

Allergy (Copenhagen), 2017-04, Vol.72 (4), p.604-615

2017

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Child development at 6 years after maternal cancer diagnosis and treatment during pregnancy

European journal of cancer (1990), 2020-10, Vol.138, p.57-67

2020

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Training for child and adolescent psychiatry in the twenty-first century

European child & adolescent psychiatry, 2020, Vol.29 (1), p.3-9

2020

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The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study

Journal of neurology, neurosurgery and psychiatry, 2012-11, Vol.83 (11), p.1093-1098

2012

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Donor fraction cell-free DNA and rejection in adult and pediatric heart transplantation

The Journal of heart and lung transplantation, 2020-05, Vol.39 (5), p.454-463

2020

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MR arthrography including abduction and external rotation images in the assessment of atraumatic multidirectional instability of the shoulder

European radiology, 2014-06, Vol.24 (6), p.1376-1385

2014

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy

Periaxin mutations cause a broad spectrum of demyelinating neuropathies

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2

Mutations in the ganglioside‐induced differentiation‐associated protein‐1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy

Correlation between the number of epineurial and endoneurial blood vessels in diseased human sural nerves

Morphological spectrum and clinical features of myopathies with tubular aggregates

X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations

Phenotypic variation of a novel nonsense mutation in the P0 intracellular domain

PMP-22 gene duplications and deletions identified in archival, paraffin-embedded sural nerve biopsy specimens : correlation to structural changes

Correlation of muscle fiber type measurements with clinical and molecular genetic data in Duchenne muscular dystrophy

Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred

Number and size of epineurial blood vessels in normal and diseased human sural nerves

Developmental changes at the node and paranode in human sural nerves : morphometric and fine-structural evaluation

HLA-DR expression in peripheral neuropathies: the role of Schwann cells, resident and hematogenous macrophages, and endoneurial fibroblasts

The role of Schwann cells in the formation of "onion bulbs" found in chronic neuropathies

The knowledge (“true belief”) error in 4- to 6-year-old children: When are agents aware of what they have in view?

A switch in regulatory T cells through farm exposure during immune maturation in childhood

Child development at 6 years after maternal cancer diagnosis and treatment during pregnancy

Training for child and adolescent psychiatry in the twenty-first century

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy—an open-label, prospective, randomised controlled multicenter study

High-Dose Chemotherapy With Hematopoietic Stem Cell Transplant in Patients With High-Risk Breast Cancer and 4 or More Involved Axillary Lymph Nodes: 20-Year Follow-up of a Phase 3 Randomized Clinical Trial

Donor fraction cell-free DNA and rejection in adult and pediatric heart transplantation

MR arthrography including abduction and external rotation images in the assessment of atraumatic multidirectional instability of the shoulder

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