Search Results - "GILHUIS, H. J"
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Congenital myopathy caused by a novel missense mutation in the CFL2 gene
Published in Neuromuscular disorders : NMD (01-07-2012)“…Abstract Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a…”
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2
Spontaneous intracranial hypotension in a patient with classical type Ehlers-Danlos syndrome
Published in Neurology India (01-07-2011)“…Physical examination revealed typical features of classical type EDS: hyperextensible skin, generalized joint hypermobility, and widened atrophic scars and no…”
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3
Inverse correlation between genetic aberrations and malignancy grade in ependymal tumors: a paradox?
Published in Journal of neuro-oncology (2004)“…The goal of our study was to investigate the inverse correlation between number of genetic aberrations and malignancy grade in ependymal tumors at the ploidy…”
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4
Paraneoplastic orthostatic tremor associated with small cell lung cancer
Published in European neurology (01-01-2005)Get more information
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5
Central neurogenic hyperventilation due to pontine glioma
Published in Neurology India (01-09-2011)Get full text
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6
Respiratory function in facioscapulohumeral muscular dystrophy 1
Published in Neuromuscular disorders : NMD (01-06-2017)“…Highlights • This is the largest study on pulmonary function in FSHD1 patients. • All ambulatory FSHD1 patients have normal pulmonary function. •…”
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7
Differential patterns of insulin-like growth factor-I and -II mRNA expression in medulloblastoma
Published in Neuropathology and applied neurobiology (01-10-2004)“…Insulin‐like growth factors (IGFs) play an important role in tumour growth and development. We hypothesized that this is also the case for medulloblastomas,…”
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8
Comparative genomic hybridization of medulloblastomas and clinical relevance: eleven new cases and a review of the literature
Published in Clinical neurology and neurosurgery (01-12-2000)“…Medulloblastomas are highly malignant primitive neuroectodermal tumors of the cerebellum that display a wide variety of histopathological patterns. However,…”
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9
Genetic reflection of glioblastoma biopsy material in xenografts : characterization of 11 glioblastoma xenograft lines by comparative genomic hybridization
Published in Journal of neurosurgery (01-04-2000)“…Human tumors implanted as subcutaneous xenografts in nude mice are widely used for the study of tumor biology and therapy. Validation of these models requires…”
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10
Demyelinating polyneuropathy in Leber hereditary optic neuropathy
Published in Neuromuscular disorders : NMD (01-06-2006)“…We report a patient with Leber hereditary optic neuropathy (G11778A mtDNA) and a severe demyelinating neuropathy, for which no other cause except his…”
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11
Songs from childhood in the head
Published in Clinical otolaryngology (01-10-2007)Get full text
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12
Contralateral reinnervation of midline muscles in facial paralysis
Published in Muscle & nerve (01-12-2001)“…We report on a patient with recovery of activity of the left orbicularis oris and nasalis muscles 3 months after a complete left facial palsy. Stimulation of…”
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13
Nonmuscular involvement in merosin-negative congenital muscular dystrophy
Published in Pediatric neurology (2002)“…The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical,…”
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14
The relationship between genetic aberrations as detected by Comparative Genomic Hybridization and vascularization in glioblastoma xenografts
Published in Journal of neuro-oncology (2001)“…Angiogenesis is of vital importance for the growth of solid tumors and constitutes a target for anti-cancer therapy. Glioblastomas (GBMs) are histologically…”
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15
Spontaneous intracranial hypotension in a patient with classical type Ehlers-Danlos syndrome
Published in Neurology India (06-03-2012)Get full text
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16
Central neurogenic hyperventilation due to pontine glioma
Published in Neurology India (06-03-2012)Get full text
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17
Neurological symptoms as the first sign of prostate carcinoma
Published in Nederlands tijdschrift voor geneeskunde (15-04-2006)“…Three male patients aged 82, 56 and 60 years presented with cognitive impairment and hemiparesis, weakness of the tongue and facial muscles, and pain and…”
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18
The interactive web-based program MSmonitor for self-management and multidisciplinary care in multiple sclerosis: concept, content, and pilot results
Published in Patient preference and adherence (01-01-2015)“…There is a growing need to offer persons with multiple sclerosis (PwMS) possibilities for self-management and to integrate multidisciplinary health data. In…”
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Interstitial 6q deletion with a Prader--Willi-like phenotype: a new case and review of the literature
Published in European journal of paediatric neurology (01-01-2000)“…We report on an additional fourth case of Prader–Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics,…”
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The interactive web-based program MSmonitor for self-management and multidisciplinary care in multiple sclerosis: utilization and valuation bypatients
Published in Patient preference and adherence (01-03-2016)“…Peter Joseph Jongen,1,2 Ludovicus G Sinnige,3 Björn M van Geel,4 Freek Verheul,5 Wim I Verhagen,6 Ruud A van der Kruijk,7 Reinoud Haverkamp,8 Hans M…”
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