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Brain metastases in patients with pelvic or abdominal malignancy do not prevail in the posterior fossa: a retrospective study

Journal of neurology, 2009-09, Vol.256 (9), p.1485-1487

2009

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Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

Brain (London, England : 1878), 1999-04, Vol.122 (4), p.649-655

1999

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Pathogenic variants in three families with distal muscle involvement

Neuromuscular disorders : NMD, 2023-01, Vol.33 (1), p.58-64

2023

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

Nature genetics, 1996-09, Vol.14 (1), p.113-115

1996

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Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations

The Journal of biological chemistry, 2002-01, Vol.277 (3), p.1949-1956

2002

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Complications corner: Anterior thoracic disc surgery with dural tear/CSF fistula and low-pressure pleural drain led to severe intracranial hypotension

Surgical neurology international, 2015, Vol.6 (5), p.137-S139

2015

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Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

Journal of neurology, neurosurgery and psychiatry, 1997-10, Vol.63 (4), p.534-536

1997

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Stroke mimicking conversion disorder: two young women who put our feet back on the ground

Practical Neurology, 2012-06, Vol.12 (3), p.179-181

2012

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Genetic localization of Bethlem myopathy

Neurology, 1996-03, Vol.46 (3), p.779-782

1996

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Assessment of aquatic animal communities in the vicinity of the palmerton, Pennsylvania, zinc smelters

Environmental toxicology and chemistry, 1993-09, Vol.12 (9), p.1661-1670

1993

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Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

Journal of neurology, neurosurgery and psychiatry, 1997-04, Vol.62 (4), p.367-371

1997

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Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

Journal of the neurological sciences, 1995-05, Vol.129 (MAI), p.56-57

1995

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Failure to maintain high-dose treatment regimens during long-term use of zidovudine in patients with symptomatic human immunodeficiency virus type 1 infection

Genitourinary Medicine, 1990-12, Vol.66 (6), p.418-422

1990

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Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37

Human molecular genetics, 1996-07, Vol.5 (7), p.1043-1046

1996

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Cerebral Microbleeds Are Not Associated with Long-Term Cognitive Outcome in Patients with Transient Ischemic Attack or Minor Stroke

Cerebrovascular diseases (Basel, Switzerland), 2014-01, Vol.37 (3), p.195-202

2014

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Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis

Journal of the neurological sciences, 1996-08, Vol.139 (suppl), p.91-94

1996

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The sugar composition of the fibre in selected plant foods modulates weaning infants’ gut microbiome composition and fermentation metabolites in vitro

Scientific reports, 2021-04, Vol.11 (1), p.9292-9292, Article 9292

2021

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Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

American journal of ophthalmology, 1997-11, Vol.124 (5), p.718-718

1997

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Bioaminergic Responses in an In Vitro System Studying Human Gut Microbiota–Kiwifruit Interactions

Microorganisms (Basel), 2020-10, Vol.8 (10), p.1582

2020

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Complementary Food Ingredients Alter Infant Gut Microbiome Composition and Metabolism In Vitro

Microorganisms (Basel), 2021-10, Vol.9 (10), p.2089

2021

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Profiling of volatile organic compounds in exhaled breath as a strategy to find early predictive signatures of asthma in children

PloS one, 2014-04, Vol.9 (4), p.e95668

2014

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Instream Flows for Riverine Resources Stewardship, Revised Edition

Canadian Water Resources Journal, 2005, Vol.30 (2), p.175

2005

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Chewing differences in consumers affect the digestion and colonic fermentation outcomes: in vitro studies

Food & function, 2022-09, Vol.13 (18), p.9355-9371

2022

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Biomarkers to predict asthma in wheezing preschool children

Clinical and experimental allergy, 2015-06, Vol.45 (6), p.1040-1050

2015

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Clinical use of exhaled volatile organic compounds in pulmonary diseases: a systematic review

Respiratory research, 2012-12, Vol.13 (1), p.117-117

2012

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Brain metastases in patients with pelvic or abdominal malignancy do not prevail in the posterior fossa: a retrospective study

Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

Pathogenic variants in three families with distal muscle involvement

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

Kinked Collagen VI Tetramers and Reduced Microfibril Formation as a Result of Bethlem Myopathy and Introduced Triple Helical Glycine Mutations

Complications corner: Anterior thoracic disc surgery with dural tear/CSF fistula and low-pressure pleural drain led to severe intracranial hypotension

Machado-Joseph disease presenting as severe asymmetric proximal neuropathy

Stroke mimicking conversion disorder: two young women who put our feet back on the ground

Genetic localization of Bethlem myopathy

Assessment of aquatic animal communities in the vicinity of the palmerton, Pennsylvania, zinc smelters

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

Differential diagnosis in spinal and bulbar muscular atrophy clinical and molecular aspects

Failure to maintain high-dose treatment regimens during long-term use of zidovudine in patients with symptomatic human immunodeficiency virus type 1 infection

Evidence for Locus Heterogeneity in the Bethlem Myopathy and Linkage to 2q37

Cerebral Microbleeds Are Not Associated with Long-Term Cognitive Outcome in Patients with Transient Ischemic Attack or Minor Stroke

Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosis

The sugar composition of the fibre in selected plant foods modulates weaning infants’ gut microbiome composition and fermentation metabolites in vitro

Autosomal dominant cerebellar ataxia with retinal degeneration (ADCA II): clinical and neuropathological findings in two pedigrees and genetic linkage to 3p12-p21.1

Bioaminergic Responses in an In Vitro System Studying Human Gut Microbiota–Kiwifruit Interactions

Complementary Food Ingredients Alter Infant Gut Microbiome Composition and Metabolism In Vitro

Profiling of volatile organic compounds in exhaled breath as a strategy to find early predictive signatures of asthma in children

Instream Flows for Riverine Resources Stewardship, Revised Edition

Chewing differences in consumers affect the digestion and colonic fermentation outcomes: in vitro studies

Biomarkers to predict asthma in wheezing preschool children

Clinical use of exhaled volatile organic compounds in pulmonary diseases: a systematic review

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