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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

European journal of human genetics : EJHG, 2015-06, Vol.23 (6), p.808-816

2015

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Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Orphanet journal of rare diseases, 2017-05, Vol.12 (1), p.86-86, Article 86

2017

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Role of ANO3 mutations in dystonia: A large-scale mutational screening study

Parkinsonism & related disorders, 2019-05, Vol.62, p.196-200

2019

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Extensive ischemic brainstem lesions and pneumocephalus after application of hydrogen peroxide (H2 O2 ) during lumbar spinal surgery

The spine journal, 2015-04, Vol.15 (4), p.e5-e7

2015

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Typical Imaging Findings in Posterior Reversible Encephalopathy Syndrome (PRES)

Journal of neuroimaging, 2013-01, Vol.23 (1), p.155-156

2013

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Posterior reversible encephalopathy syndrome: long-term follow-up

Journal of neurology, neurosurgery and psychiatry, 2010-07, Vol.81 (7), p.773-777

2010

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Chronic basilar artery occlusion: a retrospective monocentric study

Journal of neurology, 2024-07, Vol.271 (7), p.4423-4429

2024

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Transcallosal inhibition in cortical and subcortical cerebral vascular lesions

Journal of the neurological sciences, 1996-12, Vol.144 (1-2), p.160-170

1996

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Pure Eye Muscle Involvement in Endocrine Orbitopathy

European neurology, 2008-01, Vol.60 (2), p.67-72

2008

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Factors influencing intracranial pressure (ICP) during percutaneous tracheostomy

Clinical neurology and neurosurgery, 2020-08, Vol.195, p.105869-105869, Article 105869

2020

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Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2

Journal of the neurological sciences, 2018-09, Vol.392, p.22-27

2018

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Diagnostic accuracy of plasma glial fibrillary acidic protein for differentiating intracerebral hemorrhage and cerebral ischemia in patients with symptoms of acute stroke

Clinical chemistry (Baltimore, Md.), 2012-01, Vol.58 (1), p.237-245

2012

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Progress of intracranial pressure and cerebral perfusion pressure in patients during the development of brain death

Journal of the neurological sciences, 2019-03, Vol.398, p.171-175

2019

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Recombinant tissue plasminogen activator in acute thrombotic and embolic stroke

Annals of neurology, 1992-07, Vol.32 (1), p.78-86

1992

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Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2161-2172

2015

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Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

European journal of human genetics : EJHG, 2017-09, Vol.25 (9), p.1040-1048

2017

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Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Brain pathology (Zurich, Switzerland), 2024-01, Vol.34 (1), p.e13200-n/a

2024

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Differential diagnosis of vacuolar myopathies in the NGS era

Brain pathology (Zurich, Switzerland), 2020-09, Vol.30 (5), p.877-896

2020

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47 patients with FLNA associated periventricular nodular heterotopia

Orphanet journal of rare diseases, 2015-10, Vol.10 (1), p.134-134, Article 134

2015

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Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

Neurology, 2016-11, Vol.87 (21), p.2235-2243

2016

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De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Parkinsonism & related disorders, 2019-07, Vol.64, p.337-339

2019

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Cerebral Fat Embolism: Clinical Presentation, Diagnostic Steps and Long-Term Follow-Up

European neurology, 2017-01, Vol.78 (3-4), p.181-187

2017

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Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

Movement disorders, 2024-09

2024

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

Role of ANO3 mutations in dystonia: A large-scale mutational screening study

Extensive ischemic brainstem lesions and pneumocephalus after application of hydrogen peroxide (H2 O2 ) during lumbar spinal surgery

Typical Imaging Findings in Posterior Reversible Encephalopathy Syndrome (PRES)

Posterior reversible encephalopathy syndrome: long-term follow-up

Chronic basilar artery occlusion: a retrospective monocentric study

Transcallosal inhibition in cortical and subcortical cerebral vascular lesions

Pure Eye Muscle Involvement in Endocrine Orbitopathy

Factors influencing intracranial pressure (ICP) during percutaneous tracheostomy

Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2

Diagnostic accuracy of plasma glial fibrillary acidic protein for differentiating intracerebral hemorrhage and cerebral ischemia in patients with symptoms of acute stroke

Progress of intracranial pressure and cerebral perfusion pressure in patients during the development of brain death

Recombinant tissue plasminogen activator in acute thrombotic and embolic stroke

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features

Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort

Differential diagnosis of vacuolar myopathies in the NGS era

47 patients with FLNA associated periventricular nodular heterotopia

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement

Large‐Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes

De-novo KMT2B mutation in a consanguineous family: 15-Year follow-up of an Afghan dystonia patient

Cerebral Fat Embolism: Clinical Presentation, Diagnostic Steps and Long-Term Follow-Up

Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies

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