Found: 25
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Neprilysin activity in cerebrospinal fluid is associated with dementia and amyloid-[beta]42 levels in Lewy body disease.
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 2, p. 258, doi. 10.1111/cge.12629
- By:
- Publication type:
- Article
Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
- Published in:
- Clinical Genetics, 2013, v. 83, n. 1, p. 53, doi. 10.1111/j.1399-0004.2012.01850.x
- By:
- Publication type:
- Article
Inflammatory profile discriminates clinical subtypes in LRRK2-associated Parkinson's disease.
- Published in:
- European Journal of Neurology, 2017, v. 24, n. 2, p. 427, doi. 10.1111/ene.13223
- By:
- Publication type:
- Article
GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?
- Published in:
- European Journal of Neurology, 2016, v. 23, n. 3, p. 520, doi. 10.1111/ene.12894
- By:
- Publication type:
- Article
Prodromal features for Parkinson's disease - baseline data from the TREND study.
- Published in:
- European Journal of Neurology, 2014, v. 21, n. 5, p. 766, doi. 10.1111/ene.12382
- By:
- Publication type:
- Article
No association of GBA mutations and multiple system atrophy.
- Published in:
- European Journal of Neurology, 2013, v. 20, n. 4, p. e61, doi. 10.1111/ene.12086
- By:
- Publication type:
- Article
Stroke-like pattern in DTI and MRS of childhood mitochondrial leukoencephalopathy.
- Published in:
- Neuroradiology, 2004, v. 46, n. 4, p. 267
- By:
- Publication type:
- Article
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
- Published in:
- NMR in Biomedicine, 2010, v. 23, n. 5, p. 441, doi. 10.1002/nbm.1480
- By:
- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts in an adult: quantitative proton MR spectroscopy and diffusion tensor MRI.
- Published in:
- Neuroradiology, 2003, v. 45, n. 3, p. 137, doi. 10.1007/s00234-002-0931-7
- By:
- Publication type:
- Article
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).
- Published in:
- Brain: A Journal of Neurology, 2006, v. 129, n. 9, p. 2341, doi. 10.1093/brain/awl148
- By:
- Publication type:
- Article
Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17)
- Published in:
- 2006
- By:
- Publication type:
- Journal Article
Atmospheric-pressure laser ionization: a novel ionization method for liquid chromatography/mass spectrometry.
- Published in:
- Rapid Communications in Mass Spectrometry: RCM, 2005, v. 19, n. 3, p. 326, doi. 10.1002/rcm.1789
- By:
- Publication type:
- Article
Autosomal dominant glut-1 deficiency syndrome and familial epilepsy.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Myelinopathia centralis diffusa (vanishing white matter disease): evidence of apoptotic oligodendrocyte degeneration in early lesion development.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 6, p. 869, doi. 10.1007/s10545-016-9965-6
- By:
- Publication type:
- Article
Do longitudinal cerebrospinal fluid profiles correspond to postmortem brain pathology in LRRK2 Parkinson's disease?
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 1, p. e5, doi. 10.1111/ene.14060
- By:
- Publication type:
- Article
Orthostatic hypotension as a risk factor for longitudinal deterioration of cognitive function in the elderly.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 1, p. 160, doi. 10.1111/ene.14050
- By:
- Publication type:
- Article
Patient's perception: shorter and more severe prodromal phase in GBA‐associated PD.
- Published in:
- European Journal of Neurology, 2019, v. 26, n. 4, p. 694, doi. 10.1111/ene.13776
- By:
- Publication type:
- Article
Progression of prodromal motor and non-motor symptoms in the premotor phase study - 2-year follow-up data.
- Published in:
- European Journal of Neurology, 2017, v. 24, n. 11, p. 1369, doi. 10.1111/ene.13397
- By:
- Publication type:
- Article
Genetische Risikovarianten beim Parkinson-Syndrom und anderen Bewegungsstörungen.
- Published in:
- Der Nervenarzt, 2017, v. 88, n. 7, p. 713, doi. 10.1007/s00115-017-0348-5
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- Publication type:
- Article
Neue Therapieansätze bei der Parkinson-Erkrankung.
- Published in:
- Der Nervenarzt, 2017, v. 88, n. 4, p. 391, doi. 10.1007/s00115-017-0299-x
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- Publication type:
- Article
Genetik von Bewegungsstörungen.
- Published in:
- Der Nervenarzt, 2013, v. 84, n. 2, p. 143, doi. 10.1007/s00115-012-3638-y
- By:
- Publication type:
- Article
Endocrinological study on growth retardation in Rett syndrome.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Tunable diode laser measurements of CH<sub>3</sub>OOH absorption cross-sections near 1320 CM<sup>−1</sup>.
- Published in:
- Geophysical Research Letters, 1989, v. 16, n. 12, p. 1367, doi. 10.1029/GL016i012p01367
- By:
- Publication type:
- Article