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Speech deterioration in amyotrophic lateral sclerosis (ALS) after manifestation of bulbar symptoms

International journal of language & communication disorders, 2018-03, Vol.53 (2), p.385-392

2018

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Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature genetics, 2012-04, Vol.44 (4), p.450-455

2012

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Risk of vascular diseases in patients with dermatitis herpetiformis and coeliac disease: a long-term cohort study

Annals of medicine (Helsinki), 2023-12, Vol.55 (1), p.2227423-2227423

2023

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Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

Frontiers in neurology, 2022-01, Vol.12, p.835839-835839

2022

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Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Annals of neurology, 2019-06, Vol.85 (6), p.899-906

2019

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Immunological perspectives of temporal lobe seizures

Journal of neuroimmunology, 2013-10, Vol.263 (1), p.1-7

2013

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Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

PloS one, 2016-03, Vol.11 (3), p.e0151376-e0151376

2016

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Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Neuromuscular disorders : NMD, 2020-01, Vol.30 (1), p.38-46

2020

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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

PloS one, 2017-10, Vol.12 (10), p.e0186642-e0186642

2017

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Journal of neurology, 2019-03, Vol.266 (3), p.680-690

2019

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Atypical phenotypes in titinopathies explained by second titin mutations

Annals of neurology, 2014-02, Vol.75 (2), p.230-240

2014

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Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Molecular neurobiology, 2017-11, Vol.54 (9), p.7212-7223

2017

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Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

Frontiers in cell and developmental biology, 2022-02, Vol.9, p.820105

2022

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NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Acta neuropathologica communications, 2022-12, Vol.10 (1), p.185-185, Article 185

2022

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Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Acta neuropathologica communications, 2016-02, Vol.4 (10), p.9-9, Article 9

2016

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Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure

BMC neurology, 2012-08, Vol.12 (1), p.85-85, Article 85

2012

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Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Neurology. Genetics, 2018-06, Vol.4 (3), p.e244-e244

2018

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Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Neuromuscular disorders : NMD, 2011-08, Vol.21 (8), p.551-555

2011

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Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.686-695

2023

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Oral motor functions, speech and communication before a definitive diagnosis of amyotrophic lateral sclerosis

Journal of communication disorders, 2016-05, Vol.61, p.97-105

2016

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Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

Clinical case reports, 2016-12, Vol.4 (12), p.1151-1156

2016

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A retrospective study of accuracy and usefulness of electrophysiological exercise tests

Journal of neurology, 2024-04, Vol.271 (4), p.1802-1812

2024

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CACNA1S Variant Associated With a Myalgic Myopathy Phenotype

Neurology, 2023-10, Vol.101 (18)

2023

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Plasma and cerebrospinal fluid amino acids in epileptic patients

Neurochemical research, 2004-01, Vol.29 (1), p.319-324

2004

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Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

Journal of neurology, 2022-08, Vol.269 (8), p.4161-4173

2022

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Speech deterioration in amyotrophic lateral sclerosis (ALS) after manifestation of bulbar symptoms

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Risk of vascular diseases in patients with dermatitis herpetiformis and coeliac disease: a long-term cohort study

Editorial: Current and Future Developments in the Therapeutic Management of Neuromuscular Diseases

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

Immunological perspectives of temporal lobe seizures

Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Atypical phenotypes in titinopathies explained by second titin mutations

Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy

Neurofilament Light Regulates Axon Caliber, Synaptic Activity, and Organelle Trafficking in Cultured Human Motor Neurons

NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy

Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

Ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) is increased in cerebrospinal fluid and plasma of patients after epileptic seizure

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy

Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family

Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

Oral motor functions, speech and communication before a definitive diagnosis of amyotrophic lateral sclerosis

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix‐Saguenay, ARSACS, in a Finnish family

A retrospective study of accuracy and usefulness of electrophysiological exercise tests

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype

Plasma and cerebrospinal fluid amino acids in epileptic patients

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

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