M. Visser

发表

Prose memory impairment in amyotrophic lateral sclerosis patients is related to hippocampus volume

D. Veltman, B. Schmand, L. Berg, 2015, European journal of neurology.

A new screening tool for behavioral disturbances in ALS

Y. Pijnenburg, H. J. Schelhaas, B. Schmand, 2012 .

A man with fever and a persistent handgrip

C. Stehouwer, P. Nanayakkara, R. J. Vermeulen, 2003, The Lancet.

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

J. Veldink, H. J. Schelhaas, M. V. Es, 2012, Neurobiology of Aging.

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Ewout J N Groen, Machiel J Zwarts, Fernando Rivadeneira, 2009, Nature Genetics.

Persistent hyperCKemia: fourteen patients studied in retrospect

L. Brewster, M. Visser, 1988, Acta neurologica Scandinavica.

A critical appraisal of nutritional intervention studies in malnourished, community dwelling older persons.

H. Kruizenga, M. A. E. de van der Schueren, H. Wijnhoven, 2016, Clinical nutrition.

RYR1‐related myopathies: a wide spectrum of phenotypes throughout life

B. Engelen, H. Scheffer, B. Küsters, 2015, European journal of neurology.

239th ENMC International Workshop: Classification of dermatomyositis, Amsterdam, the Netherlands, 14–16 December 2018

J. Lamb, A. Mammen, M. Fujimoto, 2019, Neuromuscular Disorders.

Idiopathic inflammatory myopathies.

A. J. van der Kooi, M. Visser, A. V. D. Kooi, 2014, Handbook of clinical neurology.

193rd ENMC International workshop Pathology diagnosis of idiopathic inflammatory myopathies 30 November – 2 December 2012, Naarden, The Netherlands

I. Lundberg, M. Visser, J. Bleecker, 2013, Neuromuscular Disorders.

Dysphagia in adult myopathies

M. Visser, Z. Argov, 2020, Neuromuscular Disorders.

Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy

J. Oosterwijk, A. Essen, E. Bakker, 1999, Neuromuscular Disorders.

Dysphagia in postpolio patients: A videofluorographic follow-up study

M. Visser, S. Phoa, B. Ivanyi, 2004, Dysphagia.

Macro EMG follow-up study in post-poliomyelitis patients

B. O. D. Visser, P. Nelemans, M. Visser, 1994, Journal of Neurology.

Neuromuscular Disease: A Case-Based Approach: Index

J. Wokke, P. Doorn, M. Visser, 2013 .

Neuromuscular Disease: A Case-Based Approach: Introduction: approach to the patient

J. Wokke, P. Doorn, M. Visser, 2013 .

2016 American College of Rheumatology/European League Against Rheumatism criteria for minimal, moderate, and major clinical response in adult dermatomyositis and polymyositis

P. Lachenbruch, A. Mammen, H. Rockette, 2017, Arthritis & rheumatology.

Primary lateral sclerosis

J. Wokke, P. Doorn, M. Visser, 2013 .

Combining MRI and muscle biopsy improves diagnostic accuracy in subacute‐onset idiopathic inflammatory myopathy

M. Maas, M. Visser, I. N. Schaik, 2015, Muscle & nerve.

Review Rhabdomyolysis: Review of the literature

M. Visser, R. Zutt, A. V. D. Kooi, 2014 .

Potentially modifiable determinants of malnutrition in older adults: A systematic review.

M. Flechtner-Mors, A. Hebestreit, D. Volkert, 2019, Clinical Nutrition.

VCP mutations in familial and sporadic amyotrophic lateral sclerosis

Ewout J. N. Groen, P. V. van Vught, J. Veldink, 2012, Neurobiology of Aging.

Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: A follow-up muscle MRI study

S. Kiuru-Enari, W. Linssen, A. Lamminen, 2012, Neuromuscular Disorders.

Other forms of spinal muscular atrophies

H. Franssen, M. Visser, 2004 .

Comparison of CMT1A and CMT2: similarities and differences

F. Baas, B. Engelen, B. O. D. Visser, 2006, Journal of Neurology.

Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

E. Bertini, B. Giusti, K. Bushby, 2002, Neuromuscular Disorders.

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

82nd ENMC international workshop, 5th international Emery–Dreifuss muscular dystrophy (EDMD) workshop, 1st Workshop of the MYO-CLUSTER project EUROMEN (European muscle envelope nucleopathies), 15–16 September 2000, Naarden, The Netherlands

F. Muntoni, D. Duboc, H. Worman, 2002, Neuromuscular Disorders.

Enhanced uncoupling of the mitochondrial respiratory chain as a potential source for amyotrophic lateral sclerosis

L. Dupuis, M. Visser, 2013 .

Palliative care in neurology

D. Oliver, R. Voltz, M. Visser, 2017, The Lancet Neurology.

The history of progressive muscular atrophy

M. Visser, J. D. de Jong, J. Visser, 2008, Neurology.

Interpretation of electrodiagnostic findings in sporadic progressive muscular atrophy

H. Franssen, J. Wokke, M. Visser, 2008, Journal of Neurology.

Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family

B. O. D. Visser, M. Visser, M. Verjaal, 1988, Journal of the Neurological Sciences.

Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy

A. Wintzen, F. Jennekens, M. Visser, 1991, Neuromuscular Disorders.

Treatment of respiratory impairment in patients with motor neuron disease in the Netherlands: patient preference and timing of referral

L. H. van den Berg, M. Kampelmacher, A. J. van der Kooi, 2013, European Journal of Neurology.

UNC13A is a modifier of survival in amyotrophic lateral sclerosis

P. Andersen, F. Diekstra, W. Robberecht, 2012, Neurobiology of Aging.

Effect of Presymptomatic BodyMass Index and Consumption of Fat and Alcohol on Amyotrophic Lateral Sclerosis

J. Veldink, H. J. Schelhaas, J. Vries, 2015 .

Neuromuscular Disease: A Case-Based Approach: Classic amyotrophic lateral sclerosis

J. Wokke, P. Doorn, M. Visser, 2013 .

Endogenous female reproductive hormones and the risk of amyotrophic lateral sclerosis

J. Veldink, Y. Schouw, N. Sutedja, 2013, Journal of Neurology.

Contribution Smoking , Alcohol Consumption , and the Risk of Amyotrophic Lateral Sclerosis : A Population-based Study

J. Veldink, H. J. Schelhaas, N. Sutedja, 2012 .

Rare and common paraoxonase gene variants in amyotrophic lateral sclerosis patients

J. Veldink, H. J. Schelhaas, M. V. Es, 2012, Neurobiology of Aging.

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy

P. Scheltens, F. Baas, J. Veldink, 2014, Neurobiology of Aging.

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

G. Boriani, Y. Pinto, F. Muntoni, 2003, Neuromuscular Disorders.

224th ENMC International Workshop: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14–16 October 2016

A. Mammen, A. Pestronk, H. Goebel, 2017, Neuromuscular Disorders.

Prenatal Prediction of Spinal Muscular Atrophy

J. Osinga, H. Scheffer, C. Buys, 1996, European journal of human genetics : EJHG.

Myopathies with early contractures.

M. Visser, 2007 .

Hereditary neuromuscular diseases and cardiac involvement

M. Visser, A. V. D. Kooi, 2011 .

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis

A. Chapelle, F. Muntoni, N. Laing, 1995, Neuromuscular Disorders.

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

F. Baas, M. Speer, M. Visser, 1996, Nature Genetics.

Myositis with endomysial cell invasion indicates inclusion body myositis even if other criteria are not fulfilled

M. Visser, J. Hoogendijk, J. Vlekkert, 2015, Neuromuscular Disorders.

A47: Progress Report on the Development of New Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies

M. Bottai, J. Singh, M. Liang, 2014 .

The efficacy of rituximab in refractory myositis: the jury is still out.

M. Visser, Marianne de Visser, 2013, Arthritis and rheumatism.

What we do not know about pregnancy in hereditary neuromuscular disorders

M. Visser, Z. Argov, 2009, Neuromuscular Disorders.

Six minute walk test in type III spinal muscular atrophy: A 12month longitudinal study

M. Main, M. Sormani, E. Mazzone, 2013, Neuromuscular Disorders.

Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.

G. L. Masson, W. Löscher, P. Vermersch, 2017, The Lancet. Neurology.

16 Muscular Dystrophies

C. Reimers, M. Visser, 1996 .

NET-RMDs study: networks of fatigue and pain in rheumatic and musculoskeletal diseases – protocol for an international cross-sectional study

R. Geenen, C. Hughes, F. Estévez-López, 2022, BMJ Open.

Survival in SMA type I: A prospective analysis of 34 consecutive cases

I. Snoeck, J. Cobben, M. Visser, 2008, Neuromuscular Disorders.

A clinical approach

M. Visser, A. V. D. Kooi, I. M. Carillo-Nunez, 2009 .

Neuromuscular Disease: A Case-Based Approach: Spinal muscular atrophy type 3, Kugelberg–Welander disease

J. Wokke, P. Doorn, M. Visser, 2013 .

Somatic mosaicism of a point mutation in the dystrophin gene in a patient presenting with an asymmetrical muscle weakness and contractures

M. Visser, H. Ginjaar, A. V. D. Enden, 2003, Neuromuscular Disorders.

Myotonic Dystrophy – The Facts

M. Visser, 2003, European Journal of Human Genetics.

Diagnostic imaging of muscle

E. Mercuri, M. Visser, 2010 .

A Nmlv Recomized Autosomal Dominant Li.mb'Girde"Muscdar Dystrophy with Cardiac Involvement

D. Troost, A. Becker, J. Res, 1996 .

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

P. Lachenbruch, M. Bottai, J. Singh, 2017, Annals of the rheumatic diseases.

Secondary changes of the motor endplate in Lambert-Eaton myasthenic syndrome: a quantitative study

F. Spaans, E. Klaver-Król, F. Jennekens, 2004, Acta Neuropathologica.

Classification of myositis

V. Werth, I. Lundberg, M. Visser, 2018, Nature Reviews Rheumatology.

EFNS review on the role of muscle biopsy in the investigation of myalgia

J. Burgunder, C. Angelini, G. Siciliano, 2013, European journal of neurology.

Rhabdomyolysis: a review of the literature

R. Wanders, R. Wanders, M. Visser, 1993, Clinical Neurology and Neurosurgery.

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies

R. J. Haan, M. Visser, A. J. Kooi, 2012 .

2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups

P. Lachenbruch, M. Bottai, J. Singh, 2017, Arthritis & rheumatology.

Prior medical conditions and the risk of amyotrophic lateral sclerosis

J. Veldink, A. Visser, N. Voermans, 2014, Journal of Neurology.

A natural history study of late onset spinal muscular atrophy types 3b and 4

B. Engelen, H. Scheffer, J. Wokke, 2008, Journal of Neurology.

Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies

W. Linssen, M. Visser, A. J. Kooi, 2014, Neuromuscular Disorders.

Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy

M. Ridanpää, K. Pelin, H. Christen, 2002, Neuromuscular Disorders.

119th ENMC international workshop: Trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, The Netherlands

R. Hughes, J. Vencovský, E. Choy, 2004, Neuromuscular Disorders.

Respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies

E. Aronica, M. Visser, A. Kooi, 2015, Neuromuscular Disorders.

Initial bolus of conventional versus high‐dose dexamethasone in metastatic spinal cord compression

A. Twijnstra, C. Vecht, M. Visser, 1989, Neurology.

Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study

E Bakker, J. Oosterwijk, E. Bakker, 1999, The Lancet.

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

F. Baas, L. Valentijn, M. Visser, 1992, Nature Genetics.

Limb girdle muscular dystrophy ( generic term )

Marianne de Visser, M. Visser, 2004 .

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

F. Baas, C. Broeckhoven, J. Martín, 1991, Neuromuscular Disorders.

UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy

F. Baas, J. Boers, M. Visser, 2012 .

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia

B. Engelen, G. Drost, J. Verschuuren, 2008, European Journal of Human Genetics.

Limb girdle muscular dystrophy: reappraisal of a rejected entity

P. Barth, M. Visser, A. V. D. Kooi, 1994, Clinical Neurology and Neurosurgery.

Ascorbic acid for treatment in CMT1A: what's next?

M. Visser, C. Verhamme, 2011, The Lancet Neurology.

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

B. V. van Engelen, R. Wevers, J. Arenas, 2004, Annals of human genetics.

Hypertension risk in idiopathic hyperCKemia

J. Reijneveld, L. Brewster, W. Verschuren, 2008, Journal of Neurology.

The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathy

M. de Visser, M. Visser, W. D. de Voogt, 1992, Muscle & nerve.

Tackling the increasing problem of malnutrition in older persons: The Malnutrition in the Elderly (MaNuEL) Knowledge Hub

D. Volkert, L. D. de Groot, C. Geisler, 2017 .

Oral dexamethasone pulse therapy versus daily prednisolone in sub-acute onset myositis, a randomised clinical trial

A. Algra, I. Tweel, E. Uijtendaal, 2010, Neuromuscular Disorders.

Two amino-acid substitutions in the myelin protein zero gene of a case of Charcot–Marie–Tooth disease associated with light-near dissociation

F. Baas, C. Langerhorst, J. Koelman, 2002, Neuromuscular Disorders.

Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia

Marianne de Visser, Johannes H. T. M. Koelman, M. Vermeulen, 2004, Journal of Neurology.

De-novo mutation in hereditary motor and sensory neuropathy type I

F. Baas, C. Broeckhoven, L. Valentijn, 1992, The Lancet.

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot–Marie–Tooth disease type 1B

F. Baas, L. Valentijn, S. Kemp, 1993, Nature Genetics.

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy

F. Baas, P. Doorn, J. Wokke, 1998, Neuromuscular Disorders.

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

B. Engelen, F. Muntoni, N. Voermans, 2013, Journal of Neurology.

Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. Author response.

R. J. Haan, M. Visser, A. J. Kooi, 2013 .

EULAR points to consider for the diagnosis and management of rheumatic immune-related adverse events due to cancer immunotherapy with checkpoint inhibitors

J. Larkin, A. Cope, X. Mariette, 2020, Annals of the Rheumatic Diseases.

The Lambert–Eaton myasthenic syndrome 1988–2008: A clinical picture in 97 patients

H. J. Schelhaas, J. Verschuuren, J. Kuks, 2008, Journal of Neuroimmunology.

Connexin 32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease

S. Kemp, M. Visser, C. Die-Smulders, 1997 .

Computed tomographic findings of the skeletal musculature in sporadic distal myopathy with early adult onset

M. Visser, 1983, Journal of the Neurological Sciences.

Histopathological findings in Becker-type muscular dystrophy.

M. Visser, R. T. Houten, 1984 .

Miyoshi-type distal muscular dystrophy: clinical features of 24 Dutch patients

P. Doorn, J. Wokke, M. Visser, 1997, Neuromuscular Disorders.

Myasthenia gravis with muscle specific kinase antibodies mimicking amyotrophic lateral sclerosis

J. Veldink, J. Verschuuren, P. Damme, 2016, Neuromuscular Disorders.

Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities

M. Visser, J. Hoovers, J. Oorthuys, 1989, Clinical genetics.

Somatosensory evoked potentials, sensory nerve potentials and sensory nerve conduction in hereditary motor and sensory neuropathy type I

M. Aramideh, C. Aalfs, B. W. Ongerboer de Visser, 1992, Journal of Neurology.

Congenital myopathy with focal loss of cross-striations revisited

M. Swash, E. Aronica, N. Voermans, 2013, Neuromuscular Disorders.

Large-scale screening in sporadic amyotrophic lateral sclerosis identifies genetic modifiers in C9orf72 repeat carriers

Annelot M. Dekker, M. V. van Es, J. Veldink, 2016, Neurobiology of Aging.

VAPB and C9orf72 mutations in 1 familial amyotrophic lateral sclerosis patient

J. Veldink, H. J. Schelhaas, W. V. Rheenen, 2012, Neurobiology of Aging.

Linkage and apparent heterogeneity in proximal spinal muscular atrophies

G. V. Ommen, J. Osinga, H. Scheffer, 1993, Neuromuscular Disorders.

Palliative Care in Patients with Neuromuscular Diseases

M. Visser, 2021 .

Neuromuscular Disease: A Case-Based Approach: Neurolymphomatosis

J. Wokke, P. Doorn, M. Visser, 2013 .

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

H. Smeets, L. Reneman, F. Bleeker, 2021, Clinical Neurology and Neurosurgery.

Inclusion body myositis

J. C. Houwelingen, B. Engelen, J. Verschuuren, 1998, Journal of Neurology.

1 Idiopathic inflammatory myopathies excluding inclusion body myositis

M. Visser, 2018 .

dermatomyositisoutcome in polymyositis and

W. Linssen, W. Venrooij, J. Wokke, 2006 .

DNA restriction fragment length polymorphisms in differential diagnosis of genetic disease: application in neuromuscular diseases

E. Bakker, J. D. Vijlder, M. Visser, 1989, Human Genetics.

A novel γ-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

A. Essen, F. Jennekens, M. Visser, 1998, Neuromuscular Disorders.

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

J. Beckmann, J. Burgunder, N. Bourg, 1999, Neuromuscular Disorders.

Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathy type Ia

M. Visser, 1993, Neuromuscular Disorders.

Joint action malnutrition in the elderly (MaNuEL) knowledge hub: summary of project findings

D. Volkert, L. D. de Groot, C. Geisler, 2019, European Geriatric Medicine.

The spectrum of lower motor neuron syndromes

H. Franssen, J. Wokke, M. Visser, 2003, Journal of Neurology.

Cardiac involvement in Dutch patients with sarcoglycanopathy: A cross‐sectional cohort and follow‐up study

A. Wilde, W. G. Voogt, I. Ginjaar, 2014, Muscle & nerve.

Long‐term follow‐up study on patients with Miyoshi phenotype of distal muscular dystrophy

N. Lévy, W. G. Voogt, M. Krahn, 2013, European journal of neurology.

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

C. Straathof, I. Ginjaar, P. Doorn, 2011, Neuromuscular Disorders.

Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

H. Crijns, Y. Pinto, H. Crijns, 2004, Journal of Molecular Medicine.

Type I interferon pathway assays in studies of rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider

P. Conaghan, A. Burska, G. Cavalli, 2023, RMD Open.

Prevalence of brain and spinal cord inclusions, including dipeptide repeat proteins, in patients with the C9ORF72 hexanucleotide repeat expansion: a systematic neuropathological review

F. Baas, E. Aronica, D. Troost, 2016, Neuropathology and applied neurobiology.

UvA-DARE (Digital Academic Repository) Predictors of cognitive and psychosocial outcome after STN DBS in Parkinson's Disease Smeding,

B. Schmand, W. Linssen, R. J. Haan, 2010 .

A consensus review on the development of palliative care for patients with chronic and progressive neurological disease

S. Lorenzl, A. Caraceni, G. Borasio, 2016, European journal of neurology.

Adult-onset sporadic progressive muscular atrophy : natural history, diagnosis, and prognostic factors

H. Franssen, J. Wokke, L. V. D. Berg, 2008 .

Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider

P. Conaghan, A. Burska, G. Cavalli, 2023, RMD Open.

Olfactory and gustatory functioning and food preferences of patients with Alzheimer’s disease and mild cognitive impairment compared to controls: the NUDAD project

W. M. van der Flier, P. Scheltens, S. Boesveldt, 2019, Journal of Neurology.

Upper motor neuron and extra-motor neuron involvement in amyotrophic lateral sclerosis: A clinical and brain imaging review

F. Baas, M. V. D. Graaff, M. Visser, 2009, Neuromuscular Disorders.

UvA-DARE ( Digital Academic Repository ) Predictors of cognitive and psychosocial outcome after STN DBS in Parkinson ' s Disease

B. Schmand, W. Linssen, R. J. Haan, 2010 .

Long-term follow-up of 62 patients with myositis

M. Visser, J. Hoogendijk, J. Vlekkert, 2014, Journal of Neurology.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial

D. Papanicolaou, V. S. Williams, P. Bergh, 2019, The Lancet Neurology.

2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice

L. Rönnblom, A. Burska, G. Cavalli, 2023, Annals of the Rheumatic Diseases.

Brain metastases from undiagnosed systemic neoplasms

M. Visser, 1991, Clinical Neurology and Neurosurgery.

Early ultrastructural alterations in adult dermatomyositis Capillary abnormalities precede other structural changes in muscle

A. G. Engel, A. Engel, M. De Visser, 1989, Journal of the Neurological Sciences.

OP0165 EULAR RECOMMENDATIONS FOR THE DIAGNOSIS AND THE MANAGEMENT OF RHEUMATIC IMMUNE-RELATED ADVERSE EVENTS DUE TO CANCER IMMUNOTHERAPY

J. Larkin, A. Cope, X. Mariette, 2019, Oral Presentations.

Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10–11 November 2000, Naarden, The Netherlands

E. Bertini, K. Bushby, F. Muntoni, 2002, Neuromuscular Disorders.

Evidence for treatment of spasticity in motor neuron disease

M. Visser, 2019, The Lancet Neurology.

Superficial Siderosis, Traumatic Tap, and Xanthochromia

H. J. Schelhaas, L. V. D. Berg, M. Visser, 2016 .

Neuromuscular Disease: A Case-Based Approach: X-linked Charcot–Marie–Tooth disease

J. Wokke, P. Doorn, M. Visser, 2013 .

H63D polymorphism in HFE is not associated with amyotrophic lateral sclerosis

A. Al-Chalabi, C. Shaw, P. Andersen, 2013, Neurobiology of Aging.

Cardiac Involvement in Bethlem Myopathy—Reply

W. G. Voogt, M. Visser, A. Kooi, 2007 .

UvA-DARE ( Digital Academic Repository ) Calpainopathy : a survey of mutations and polymorphisms

J. Beckmann, K. Bushby, I. Richard, 1999 .

Polymyositis: An overdiagnosed entity

A. Pestronk, D. Isenberg, B. Engelen, 2004, Neurology.

W. V. van Venrooij, H. Burger, A. Voskuyl, 2003, Neurology.

Oral high dose ascorbic acid treatment for one year in young CMT1A patients: a randomised, double-blind, placebo-controlled phase II trial

F. Baas, R. D. de Haan, M. Vermeulen, 2009, BMC medicine.

Patterns of motor and non-motor features in Parkinson’s disease

J. Marinus, S. V. van Rooden, D. Verbaan, 2009, Journal of Neurology, Neurosurgery, and Psychiatry.

Difference in distribution of muscle weakness between myasthenia gravis and the Lambert-Eaton myasthenic syndrome.

A. Twijnstra, B. V. van Engelen, J. Verschuuren, 2002, Journal of neurology, neurosurgery, and psychiatry.

Clinical characterisation of Becker muscular dystrophy patients predicts favourable outcome in exon-skipping therapy

J. Verschuuren, C. Straathof, A. J. van der Kooi, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

A. Wilde, R. D. de Haan, J. Oosterwijk, 2011, Neurology.

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).

F. Baas, K. Schwartz, G. Bonne, 2000, Human molecular genetics.

Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

P. Reitsma, C. Spek, D. Borgel, 2009, Human Genetics.

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

G. van Ommen, R. D. de Haan, P. Jongen, 1996, Brain : a journal of neurology.

UvA-DARE ( Digital Academic Repository ) Collagen VI mutations in Bethlem myopathy

P. Barth, M. de Visser, J. Boers, 2012 .

Calpainopathy-a survey of mutations and polymorphisms.

J. Beckmann, K. Bushby, I. Richard, 1999, American journal of human genetics.

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

E. McNally, A. J. van der Kooi, M. de Visser, 1997, American journal of human genetics.

Epidemiology of inclusion body myositis in the Netherlands: A nationwide study

F. Breedveld, B. Engelen, B. V. van Engelen, 2000, Neurology.

Phase II/III randomized trial of TCH346 in patients with ALS

A. Destée, M. Swash, A. Chiò, 2007, Neurology.

Charcot-Marie-Tooth disease due to a de novo mutation of the RAB7 gene

F. Baas, M. de Visser, M. Weterman, 2006, Neurology.

Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.

H. Scheffer, C. Buys, M. de Visser, 1995, American journal of human genetics.

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy.

H. Smeets, R. Wanders, B. J. van den Bosch, 2015, JIMD reports.

Polymyositis: An overdiagnosed entity

A. Pestronk, D. Isenberg, B. Engelen, 2004, Neurology.

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

E. Aronica, L. H. van den Berg, J. Veldink, 2008, Neurology.

Silver Linings: The Experience of Hope in Dyads with Motor Neuron Disease. An Explorative Study

E. Smets, A. Beelen, F. Nollet, 2019, Journal of Palliative Care & Medicine.

Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography.

H. Smeets, B. J. van den Bosch, C. D. de Die-Smulders, 2000, Nucleic acids research.

Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

M. Visser, B. Verbeeten, 1985, Clinical genetics.

Dropped head syndrome and bent spine syndrome: two separate clinical entities or different manifestations of axial myopathy?

M. de Visser, M. Visser, W. G. Oerlemans, 1998, Journal of neurology, neurosurgery, and psychiatry.

Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

R. M. Van den Berg-Vos, E. Bakker, J. Wokke, 2000, Journal of neurology, neurosurgery, and psychiatry.

High resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

H. Buermans, B. Engelen, M. Upadhyaya, 2021, Human molecular genetics.

H. Burger, J. Wokke, M. Visser, 2003, Neurology.

Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy

A. Wintzen, M. de Visser, J. Wokke, 2003, Journal of Neurology.

Predictors of cognitive and psychosocial outcome after STN DBS in Parkinson's Disease

B. Schmand, H. Huizenga, W. Linssen, 2009, Journal of Neurology, Neurosurgery & Psychiatry.

The Challenge and Public Health Implications of Alzheimer Overdiagnosis in the Oldest Old

M. V. D. Graaff, M. Visser, 2017 .

Palliative care in chronic and progressive neurological disease: Summary of a consensus review

S. Lorenzl, A. Caraceni, G. Borasio, 2016 .

Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy.

M. Zaccolo, F. Muntoni, T. Pozzan, 2001, Human molecular genetics.

ANO5 mutations in the Dutch limb girdle muscular dystrophy population

C. Straathof, I. Ginjaar, P. Doorn, 2011, Neuromuscular Disorders.

Neuromuscular disorders: orphan diseases deserve attention

M. Visser, 2006, The Lancet Neurology.

Exercise therapy and cognitive behavioural therapy to improve fatigue, daily activity performance and quality of life in Postpoliomyelitis Syndrome: the protocol of the

G. Bleijenberg, A. Beelen, T. Abma, 2017 .

The history of progressive muscular atrophy

M. Visser, J. D. de Jong, J. Visser, 2008, Neurology.

Mimic syndromes in sporadic cases of progressive spinal muscular atrophy

H. Franssen, O. Vogels, M. Visser, 2002, Neurology.

Clinical analysis of 32 patients carrying R453W LMNA mutation

F. Muntoni, B. Eymard, D. Toniolo, 2002 .

A Consensus Hybrid Definition Using a Conjoint Analysis Is the Proposed As Response Criteria for Minimal and Moderate Improvement for Adult Polymyositis and Dermatomyositis Clincal Trials.

P. Lachenbruch, A. Mammen, H. Rockette, 2014 .

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2

F. Baas, D. Barker, L. Valentijn, 1991, Human Genetics.

2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups

P. Lachenbruch, M. Bottai, J. Singh, 2017, Annals of the rheumatic diseases.

Necrotising myopathy, an unusual presentation of a steroid-responsive myopathy

A. Wintzen, J. Wokke, M. Visser, 2003, Journal of Neurology.

Riboflavin‐responsive lipid‐storage myopathy and glutaric aciduria type II of early adult onset

H. A. Veder, M. de Visser, P. Oey, 1986, Neurology.

Automated muscle fat segmentation in DTI data of post-polio patients based on parameter distirbutions

K. Nicolay, A. Nederveen, M. Froeling, 2011 .

205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28–30 March 2014, Naarden, The Netherlands

A. Mammen, F. Mastaglia, E. Aronica, 2015, Neuromuscular Disorders.

Mortality and Causes of Death in Patients with Sporadic Inclusion Body Myositis: Survey Study Based on the Clinical Experience of Specialists in Australia,

B. Tseng, F. Mastaglia, T. Lloyd, 2016 .

Oral pulsed high-dose dexamethasone for myositis

J. Wokke, M. de Visser, J. Wokke, 2000, Journal of Neurology.

Vocational perspectives and neuromuscular disorders

J. Wokke, A. Wintzen, M. de Visser, 1997, International journal of rehabilitation research. Internationale Zeitschrift fur Rehabilitationsforschung. Revue internationale de recherches de readaptation.

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

J. Veldink, H. J. Schelhaas, M. Visser, 2012, Neurobiology of Aging.