Giorgia Querin

Giorgia Querin

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Giorgia Querin

Giorgia Querin

Publications by authors named "Giorgia Querin"

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35Publications

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The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment.

J Pers Med 2020 Jul 29;10(3). Epub 2020 Jul 29.

Centre of Research in Myology, Institute of Myology, Sorbonne Université, INSERM, 75013 Paris, France.

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http://dx.doi.org/10.3390/jpm10030075DOI Listing
July 2020

Cerebellar degeneration in adult spinal muscular atrophy patients.

J Neurol 2020 May 10. Epub 2020 May 10.

Laboratoire d'Imagerie Biomédicale, Sorbonne Université, CNRS, INSERM, Paris, France.

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http://dx.doi.org/10.1007/s00415-020-09875-4DOI Listing
May 2020

The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

Orphanet J Rare Dis 2020 Apr 10;15(1):90. Epub 2020 Apr 10.

Pôle Neurosciences - Service de Neurologie, Centre de Référence SLA et les maladies du neurone moteur, Hôpital Pasteur2, CHU de Nice Université Côte d'Azur, Nice, France.

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http://dx.doi.org/10.1186/s13023-020-01366-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149864PMC
April 2020

The spinal and cerebral profile of adult spinal-muscular atrophy: A multimodal imaging study.

Neuroimage Clin 2019 28;21:101618. Epub 2018 Nov 28.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry, Londonderry, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nicl.2018.101618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413472PMC
December 2019

Absence of hyperexcitability of spinal motoneurons in patients with amyotrophic lateral sclerosis.

J Physiol 2019 11 26;597(22):5445-5467. Epub 2019 Oct 26.

Sorbonne Université, Inserm, CNRS, Laboratoire d'Imagerie Biomédicale, LIB, Paris, France.

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http://dx.doi.org/10.1113/JP278117DOI Listing
November 2019

Preliminary design and validation of the "6-K-scale" for bulbar symptoms evaluation in SBMA.

Neurol Sci 2019 Jul 26;40(7):1393-1401. Epub 2019 Mar 26.

Neuromuscular Center, Department of Neurosciences, University of Padova, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-019-03850-2DOI Listing
July 2019

Brain MRI shows white matter sparing in Kennedy's disease and slow-progressing lower motor neuron disease.

Hum Brain Mapp 2019 07 28;40(10):3102-3112. Epub 2019 Mar 28.

Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.

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http://dx.doi.org/10.1002/hbm.24583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6865482PMC
July 2019

Spinal Cord Imaging in Amyotrophic Lateral Sclerosis: Historical Concepts-Novel Techniques.

Front Neurol 2019 12;10:350. Epub 2019 Apr 12.

Biomedical Imaging Laboratory (LIB), Sorbonne University, CNRS, INSERM, Paris, France.

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http://dx.doi.org/10.3389/fneur.2019.00350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474186PMC
April 2019

Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy.

Neurology 2019 03 20;92(11):e1205-e1211. Epub 2019 Feb 20.

From the Institute of Neurology (V.L., O.J.Z., L.Z., C.H., M.F., C.-H.L., B.M., H.Z., A.H., L.G., M.H., P.F.), University College London Institute of Neurology, Queen Square, London; Blizard Institute (V.L., A.M.), Queen Mary, University of London, UK; Department of Neurosciences (G.Q., I.M., C.B., G.S.), University of Padova, Italy; Department of Neurology (C.-H.L.), China Medical University Hospital, Taiwan; Basildon Hospital (K.A.), UK; Department of Physiology, Anatomy and Genetics (C.R.), University of Oxford; UK Dementia Research Institute at UCL (H.Z., A.H.), London, UK; Clinical Neurochemistry Laboratory (H.Z.), Sahlgrenska University Hospital; and the Department of Psychiatry and Neurochemistry (H.Z.), Institute of Neuroscience and Physiology, the Sahlgrenska Academy at the University of Gothenburg, Mölndal, Sweden.

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http://dx.doi.org/10.1212/WNL.0000000000007097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511101PMC
March 2019

Multimodal spinal cord MRI offers accurate diagnostic classification in ALS.

J Neurol Neurosurg Psychiatry 2018 11 20;89(11):1220-1221. Epub 2018 Jan 20.

Laboratoire d'Imagerie Biomédicale, LIB, Sorbonne Universités, CNRS, INSERM, Paris, France.

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http://dx.doi.org/10.1136/jnnp-2017-317214DOI Listing
November 2018

The motor unit number index (MUNIX) profile of patients with adult spinal muscular atrophy.

Clin Neurophysiol 2018 11 13;129(11):2333-2340. Epub 2018 Sep 13.

Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, Paris, France; APHP, Département de Neurologie, Hôpital Pitié-Salpêtrière, Centre référent SLA, Paris, France; Northern Ireland Centre for Stratified Medicine, Biomedical Sciences Research Institute Ulster University, C-TRIC, Altnagelvin Hospital, Derry/Londonderry, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S13882457183121
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http://dx.doi.org/10.1016/j.clinph.2018.08.025DOI Listing
November 2018

Biomarkers of Spinal and Bulbar Muscle Atrophy (SBMA): A Comprehensive Review.

Front Neurol 2018 10;9:844. Epub 2018 Oct 10.

Laboratoire d'Imagerie Biomédicale, CNRS, INSERM, Sorbonne Université, Paris, France.

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https://www.frontiersin.org/article/10.3389/fneur.2018.00844
Publisher Site
http://dx.doi.org/10.3389/fneur.2018.00844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191472PMC
October 2018

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Neurol Sci 2016 Nov 21;37(11):1815-1821. Epub 2016 Jul 21.

Department of Neurosciences, Neuromuscular Center, University of Padova, Via Giustiniani 5, 35128, Padua, Italy.

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http://dx.doi.org/10.1007/s10072-016-2666-yDOI Listing
November 2016

Impact on children of a parent with ALS: a case-control study.

Front Psychol 2015 17;6:288. Epub 2015 Mar 17.

Department of Philosophy, Sociology, Pedagogy and Applied Psychology, University of Padova Padova, Italy.

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http://dx.doi.org/10.3389/fpsyg.2015.00288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362044PMC
April 2015

Improving the knowledge of amyotrophic lateral sclerosis genetics: novel SOD1 and FUS variants.

Neurobiol Aging 2014 May 29;35(5):1212.e7-1212.e10. Epub 2013 Oct 29.

Laboratory of Human Genetics, Department of Biology, University of Padova, Padova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.10.093DOI Listing
May 2014