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Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

Journal of internal medicine, 2020-07, Vol.288 (1), p.103-115

2020

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Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy

Bone marrow transplantation (Basingstoke), 2014-08, Vol.49 (8), p.1046-1051

2014

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Parkinson's disease with restless legs syndrome-an in vivo corneal confocal microscopy study

NPJ Parkinson's Disease, 2021-01, Vol.7 (1), p.4-4, Article 4

2021

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G.P.254

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.893-893

2014

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Late-onset limb-girdle muscular dystrophy caused by GMPPB -mutation

NEUROMUSCULAR DISORDERS, 2015, Vol.25, p.S235-S235

2015

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Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series

Neurology. Genetics, 2019-08, Vol.5 (4), p.e344-e344

2019

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G.P.255

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.893-893

2014

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A novel NGFB point mutation: a phenotype study of heterozygous patients

Journal of neurology, neurosurgery and psychiatry, 2009-02, Vol.80 (2), p.188-195

2009

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A double blind, randomised, parallel group study to investigate the dose equivalence of Dysport® and Botox®in the treatment of cervical dystonia

Journal of neurology, neurosurgery and psychiatry, 1998-01, Vol.64 (1), p.6-12

1998

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Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series

Scientific reports, 2019-10, Vol.9 (1), p.15358, Article 15358

2019

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Painful and non-painful neuropathy in HIV-infected patients: an analysis of somatosensory nerve function

European journal of pain, 2003-01, Vol.7 (1), p.23-31

2003

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Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Journal of internal medicine, 2024-09, Vol.296 (3), p.234-248

2024

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Clinical Reasoning: Leg weakness and stiffness at the emergency room

Neurology, 2019-02, Vol.92 (6)

2019

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A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

Human molecular genetics, 2004-04, Vol.13 (8), p.799-805

2004

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Improvement of nerve conduction in diabetic neuropathy. A follow-up study 4 yr after combined pancreatic and renal transplantation

Diabetes (New York, N.Y.), 1992-08, Vol.41 (8), p.946-951

1992

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Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

Neuromuscular disorders : NMD, 2017-07, Vol.27 (7), p.627-630

2017

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Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Frontiers in neurology, 2023, Vol.14, p.1170005-1170005

2023

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Involuntary movements, vocalizations and cognitive decline

Parkinsonism & related disorders, 2020-10, Vol.79, p.135-137

2020

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Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

Journal of clinical medicine, 2019-12, Vol.8 (12), p.2163

2019

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G.P.169 - Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S235-S235

2015

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Multiple MAG peptides are recognized by circulating T and B lymphocytes in polyneuropathy and multiple sclerosis

European journal of neurology, 2002-05, Vol.9 (3), p.243-251

2002

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Nerve conduction and autonomic nerve function in diabetic children. A 10-year follow-up study

Acta Paediatrica, 1997-04, Vol.86 (4), p.361-366

1997

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G.P.254: Epidemiology of limb-girdle muscular dystrophies in Sweden

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9-10), p.893-893

2014

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P.24 - A possible new phenotype associated with variants in COL6A2 gene

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S105-S105

2017

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A possible new phenotype associated with variants in COL6A2 gene

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S105

2017

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Broader phenotypic traits and widespread brain hypometabolism in spinocerebellar ataxia 27

Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy

Parkinson's disease with restless legs syndrome-an in vivo corneal confocal microscopy study

G.P.254

Late-onset limb-girdle muscular dystrophy caused by GMPPB -mutation

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series

G.P.255

A novel NGFB point mutation: a phenotype study of heterozygous patients

A double blind, randomised, parallel group study to investigate the dose equivalence of Dysport® and Botox®in the treatment of cervical dystonia

Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series

Painful and non-painful neuropathy in HIV-infected patients: an analysis of somatosensory nerve function

Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs

Clinical Reasoning: Leg weakness and stiffness at the emergency room

A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception

Improvement of nerve conduction in diabetic neuropathy. A follow-up study 4 yr after combined pancreatic and renal transplantation

Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders

Involuntary movements, vocalizations and cognitive decline

Pallidal Deep Brain Stimulation in DYT6 Dystonia: Clinical Outcome and Predictive Factors for Motor Improvement

G.P.169 - Late-onset limb-girdle muscular dystrophy caused by GMPPB-mutation

Multiple MAG peptides are recognized by circulating T and B lymphocytes in polyneuropathy and multiple sclerosis

Nerve conduction and autonomic nerve function in diabetic children. A 10-year follow-up study

G.P.254: Epidemiology of limb-girdle muscular dystrophies in Sweden

P.24 - A possible new phenotype associated with variants in COL6A2 gene

A possible new phenotype associated with variants in COL6A2 gene

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