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Items: 47

1.

Absence of hyperexcitability of spinal motoneurons in patients with ALS.

Marchand-Pauvert V, Peyre I, Lackmy-Vallee A, Querin G, Bede P, Lacomblez L, Debs R, Pradat PF.

J Physiol. 2019 Sep 15. doi: 10.1113/JP278117. [Epub ahead of print]

PMID:
31523813
2.

Adaptive functional reorganization in amyotrophic lateral sclerosis: coexisting degenerative and compensatory changes.

Abidi M, de Marco G, Couillandre A, Feron M, Mseddi E, Termoz N, Querin G, Pradat PF, Bede P.

Eur J Neurol. 2019 Jul 16. doi: 10.1111/ene.14042. [Epub ahead of print]

PMID:
31310452
3.

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study.

Querin G, Bede P, El Mendili MM, Li M, Pélégrini-Issac M, Rinaldi D, Catala M, Saracino D, Salachas F, Camuzat A, Marchand-Pauvert V, Cohen-Adad J, Colliot O, Le Ber I, Pradat PF; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis Study Group.

Ann Neurol. 2019 Aug;86(2):158-167. doi: 10.1002/ana.25520. Epub 2019 Jun 27.

4.

Comparative Analysis of C9orf72 and Sporadic Disease in a Large Multicenter ALS Population: The Effect of Male Sex on Survival of C9orf72 Positive Patients.

Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Ferro C, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J.

Front Neurosci. 2019 May 17;13:485. doi: 10.3389/fnins.2019.00485. eCollection 2019.

5.

Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome.

Mazzini L, Gelati M, Profico DC, Sorarù G, Ferrari D, Copetti M, Muzi G, Ricciolini C, Carletti S, Giorgi C, Spera C, Frondizi D, Masiero S, Stecco A, Cisari C, Bersano E, De Marchi F, Sarnelli MF, Querin G, Cantello R, Petruzzelli F, Maglione A, Zalfa C, Binda E, Visioli A, Trombetta D, Torres B, Bernardini L, Gaiani A, Massara M, Paolucci S, Boulis NM, Vescovi AL; ALS-NSCs Trial Study Group.

Stem Cells Transl Med. 2019 Sep;8(9):887-897. doi: 10.1002/sctm.18-0154. Epub 2019 May 18.

6.

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

El Mendili MM, Querin G, Bede P, Pradat PF.

Front Neurol. 2019 Apr 12;10:350. doi: 10.3389/fneur.2019.00350. eCollection 2019. Review.

7.

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

Spinelli EG, Agosta F, Ferraro PM, Querin G, Riva N, Bertolin C, Martinelli I, Lunetta C, Fontana A, Sorarù G, Filippi M.

Hum Brain Mapp. 2019 Jul;40(10):3102-3112. doi: 10.1002/hbm.24583. Epub 2019 Mar 28.

PMID:
30924230
8.

Machine Learning in Amyotrophic Lateral Sclerosis: Achievements, Pitfalls, and Future Directions.

Grollemund V, Pradat PF, Querin G, Delbot F, Le Chat G, Pradat-Peyre JF, Bede P.

Front Neurosci. 2019 Feb 28;13:135. doi: 10.3389/fnins.2019.00135. eCollection 2019. Review.

9.

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy.

Francini-Pesenti F, Querin G, Martini C, Mareso S, Sacerdoti D.

Acta Myol. 2018 Sep 1;37(3):204-209. eCollection 2018 Sep.

10.

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

Lombardi V, Querin G, Ziff OJ, Zampedri L, Martinelli I, Heller C, Foiani M, Bertolin C, Lu CH, Malik B, Allen K, Rinaldi C, Zetterberg H, Heslegrave A, Greensmith L, Hanna M, Soraru G, Malaspina A, Fratta P.

Neurology. 2019 Mar 12;92(11):e1205-e1211. doi: 10.1212/WNL.0000000000007097. Epub 2019 Feb 20.

11.

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

Querin G, El Mendili MM, Lenglet T, Behin A, Stojkovic T, Salachas F, Devos D, Le Forestier N, Del Mar Amador M, Debs R, Lacomblez L, Meninger V, Bruneteau G, Cohen-Adad J, Lehéricy S, Laforêt P, Blancho S, Benali H, Catala M, Li M, Marchand-Pauvert V, Hogrel JY, Bede P, Pradat PF.

Neuroimage Clin. 2019;21:101618. doi: 10.1016/j.nicl.2018.101618. Epub 2018 Nov 28.

12.

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

Querin G, Bede P, Marchand-Pauvert V, Pradat PF.

Front Neurol. 2018 Oct 10;9:844. doi: 10.3389/fneur.2018.00844. eCollection 2018. Review.

13.

Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region.

Bertolin C, Querin G, Martinelli I, Pennuto M, Pegoraro E, Sorarù G.

Eur J Neurol. 2019 Mar;26(3):519-524. doi: 10.1111/ene.13850. Epub 2018 Dec 7.

PMID:
30351503
14.

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

Querin G, Lenglet T, Debs R, Stojkovic T, Behin A, Salachas F, Le Forestier N, Amador MDM, Lacomblez L, Meininger V, Bruneteau G, Laforêt P, Blancho S, Marchand-Pauvert V, Bede P, Hogrel JY, Pradat PF.

Clin Neurophysiol. 2018 Nov;129(11):2333-2340. doi: 10.1016/j.clinph.2018.08.025. Epub 2018 Sep 13.

PMID:
30248623
15.

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study.

Marcato S, Kleinbub JR, Querin G, Pick E, Martinelli I, Bertolin C, Cipolletta S, Pegoraro E, Sorarù G, Palmieri A.

Sci Rep. 2018 Sep 11;8(1):13627. doi: 10.1038/s41598-018-32062-5.

16.

Extrapyramidal deficits in ALS: a combined biomechanical and neuroimaging study.

Feron M, Couillandre A, Mseddi E, Termoz N, Abidi M, Bardinet E, Delgadillo D, Lenglet T, Querin G, Welter ML, Le Forestier N, Salachas F, Bruneteau G, Del Mar Amador M, Debs R, Lacomblez L, Meininger V, Pélégrini-Issac M, Bede P, Pradat PF, de Marco G.

J Neurol. 2018 Sep;265(9):2125-2136. doi: 10.1007/s00415-018-8964-y. Epub 2018 Jul 11.

PMID:
29995291
17.

The changing landscape of motor neuron disease imaging: the transition from descriptive studies to precision clinical tools.

Bede P, Querin G, Pradat PF.

Curr Opin Neurol. 2018 Aug;31(4):431-438. doi: 10.1097/WCO.0000000000000569. Review.

PMID:
29750730
18.

Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis.

Mandrioli J, Ferri L, Fasano A, Zucchi E, Fini N, Moglia C, Lunetta C, Marinou K, Ticozzi N, Drago Ferrante G, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Chiò A, Riva N, Logroscino G, Messina S, Calvo A.

Eur J Neurol. 2018 Jun;25(6):861-868. doi: 10.1111/ene.13620. Epub 2018 Apr 15.

19.

New FIG4 gene mutations causing aggressive ALS.

Bertolin C, Querin G, Bozzoni V, Martinelli I, De Bortoli M, Rampazzo A, Gellera C, Pegoraro E, Sorarù G.

Eur J Neurol. 2018 Mar;25(3):e41-e42. doi: 10.1111/ene.13559. No abstract available.

PMID:
29464931
20.

Multimodal spinal cord MRI offers accurate diagnostic classification in ALS.

Querin G, El Mendili MM, Bede P, Delphine S, Lenglet T, Marchand-Pauvert V, Pradat PF.

J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1220-1221. doi: 10.1136/jnnp-2017-317214. Epub 2018 Jan 20. No abstract available.

PMID:
29353238
21.

Comorbidity of dementia with amyotrophic lateral sclerosis (ALS): insights from a large multicenter Italian cohort.

Trojsi F, Siciliano M, Femiano C, Santangelo G, Lunetta C, Calvo A, Moglia C, Marinou K, Ticozzi N, Drago Ferrante G, Scialò C, Sorarù G, Conte A, Falzone YM, Tortelli R, Russo M, Sansone VA, Chiò A, Mora G, Poletti B, Volanti P, Caponnetto C, Querin G, Sabatelli M, Riva N, Logroscino G, Messina S, Fasano A, Monsurrò MR, Tedeschi G, Mandrioli J.

J Neurol. 2017 Nov;264(11):2224-2231. doi: 10.1007/s00415-017-8619-4. Epub 2017 Sep 15.

PMID:
28914354
22.

Spinal cord multi-parametric magnetic resonance imaging for survival prediction in amyotrophic lateral sclerosis.

Querin G, El Mendili MM, Lenglet T, Delphine S, Marchand-Pauvert V, Benali H, Pradat PF.

Eur J Neurol. 2017 Aug;24(8):1040-1046. doi: 10.1111/ene.13329. Epub 2017 Jun 6.

PMID:
28586096
23.

Motor neuron disease of very long disease duration or Charcot-Marie-Tooth disease? A novel phenotype related to the SOD1 p.E22G variant.

Querin G, Corcia P, Lenglet T, Stojkovic T, Leguern E, Cazeneuve C, Pradat PF.

Rev Neurol (Paris). 2017 Dec;173(10):671-673. doi: 10.1016/j.neurol.2017.05.008. Epub 2017 Jun 1. No abstract available.

PMID:
28579206
24.

Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy.

Querin G, Sorarù G, Pradat PF.

Rev Neurol (Paris). 2017 May;173(5):326-337. doi: 10.1016/j.neurol.2017.03.019. Epub 2017 May 1. Review.

PMID:
28473226
25.

The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case.

Querin G, Martinelli I, Bertolin C, Pegoraro E, Pennuto M, Sorarù G.

Ann Oncol. 2017 May 1;28(5):1160-1161. doi: 10.1093/annonc/mdx038. No abstract available.

PMID:
28453707
26.

Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis: Neurofilament Light Chain Levels in Definite Subtypes of Disease.

Gaiani A, Martinelli I, Bello L, Querin G, Puthenparampil M, Ruggero S, Toffanin E, Cagnin A, Briani C, Pegoraro E, Sorarù G.

JAMA Neurol. 2017 May 1;74(5):525-532. doi: 10.1001/jamaneurol.2016.5398.

27.

Factors predicting survival in ALS: a multicenter Italian study.

Calvo A, Moglia C, Lunetta C, Marinou K, Ticozzi N, Ferrante GD, Scialo C, Sorarù G, Trojsi F, Conte A, Falzone YM, Tortelli R, Russo M, Chiò A, Sansone VA, Mora G, Silani V, Volanti P, Caponnetto C, Querin G, Monsurrò MR, Sabatelli M, Riva N, Logroscino G, Messina S, Fini N, Mandrioli J.

J Neurol. 2017 Jan;264(1):54-63. doi: 10.1007/s00415-016-8313-y. Epub 2016 Oct 24.

PMID:
27778156
28.

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

Querin G, DaRe E, Martinelli I, Bello L, Bertolin C, Pareyson D, Mariotti C, Pegoraro E, Sorarù G.

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

PMID:
27444956
29.

No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype.

Bertolin C, Querin G, Da Re E, Sagnelli A, Bello L, Cao M, Muscas M, Pennuto M, Ermani M, Pegoraro E, Mariotti C, Gellera C, Hanna MG, Pareyson D, Fratta P, Sorarù G.

Eur J Neurol. 2016 Jun;23(6):1134-6. doi: 10.1111/ene.13001.

PMID:
27141859
30.

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease.

J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26.

31.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations.

Pensato V, Tiloca C, Corrado L, Bertolin C, Sardone V, Del Bo R, Calini D, Mandrioli J, Lauria G, Mazzini L, Querin G, Ceroni M, Cantello R, Corti S, Castellotti B, Soldà G, Duga S, Comi GP, Cereda C, Sorarù G, D'Alfonso S, Taroni F, Shaw CE, Landers JE, Ticozzi N, Ratti A, Gellera C, Silani V; SLAGEN Consortium.

J Neurol. 2015 May;262(5):1376-8. doi: 10.1007/s00415-015-7739-y. Epub 2015 Apr 18. No abstract available.

32.

Human neural stem cell transplantation in ALS: initial results from a phase I trial.

Mazzini L, Gelati M, Profico DC, Sgaravizzi G, Projetti Pensi M, Muzi G, Ricciolini C, Rota Nodari L, Carletti S, Giorgi C, Spera C, Domenico F, Bersano E, Petruzzelli F, Cisari C, Maglione A, Sarnelli MF, Stecco A, Querin G, Masiero S, Cantello R, Ferrari D, Zalfa C, Binda E, Visioli A, Trombetta D, Novelli A, Torres B, Bernardini L, Carriero A, Prandi P, Servo S, Cerino A, Cima V, Gaiani A, Nasuelli N, Massara M, Glass J, Sorarù G, Boulis NM, Vescovi AL.

J Transl Med. 2015 Jan 27;13:17. doi: 10.1186/s12967-014-0371-2.

33.

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

Calvo V, Bianco F, Benelli E, Sambin M, Monsurrò MR, Femiano C, Querin G, Sorarù G, Palmieri A.

Front Psychol. 2015 Mar 17;6:288. doi: 10.3389/fpsyg.2015.00288. eCollection 2015.

34.

Theory of mind, empathy and neuropsychological functioning in X-linked spinal and bulbar muscular atrophy: a controlled study of 20 patients.

Di Rosa E, Sorarù G, Kleinbub JR, Calvo V, Vallesi A, Querin G, Marcato S, Grasso I, Palmieri A.

J Neurol. 2015 Feb;262(2):394-401. doi: 10.1007/s00415-014-7567-5. Epub 2014 Nov 20.

PMID:
25408365
35.

The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report.

Querin G, Bertolin C, Martinuzzi A, Bassi MT, Arnoldi A, Polo A, Pegoraro E, Sorarù G.

Eur J Neurol. 2014 Oct;21(10):e85-6. doi: 10.1111/ene.12481. No abstract available.

PMID:
25209065
36.

Female gender doubles executive dysfunction risk in ALS: a case-control study in 165 patients.

Palmieri A, Mento G, Calvo V, Querin G, D'Ascenzo C, Volpato C, Kleinbub JR, Bisiacchi PS, Sorarù G.

J Neurol Neurosurg Psychiatry. 2015 May;86(5):574-9. doi: 10.1136/jnnp-2014-307654. Epub 2014 Jul 25.

PMID:
25063584
37.

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

Bertolin C, D'Ascenzo C, Querin G, Gaiani A, Boaretto F, Salvoro C, Vazza G, Angelini C, Cagnin A, Pegoraro E, Sorarù G, Mostacciuolo ML.

Neurobiol Aging. 2014 May;35(5):1212.e7-1212.e10. doi: 10.1016/j.neurobiolaging.2013.10.093. Epub 2013 Oct 29.

PMID:
24325798
38.

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis.

Fogh I, Ratti A, Gellera C, Lin K, Tiloca C, Moskvina V, Corrado L, Sorarù G, Cereda C, Corti S, Gentilini D, Calini D, Castellotti B, Mazzini L, Querin G, Gagliardi S, Del Bo R, Conforti FL, Siciliano G, Inghilleri M, Saccà F, Bongioanni P, Penco S, Corbo M, Sorbi S, Filosto M, Ferlini A, Di Blasio AM, Signorini S, Shatunov A, Jones A, Shaw PJ, Morrison KE, Farmer AE, Van Damme P, Robberecht W, Chiò A, Traynor BJ, Sendtner M, Melki J, Meininger V, Hardiman O, Andersen PM, Leigh NP, Glass JD, Overste D, Diekstra FP, Veldink JH, van Es MA, Shaw CE, Weale ME, Lewis CM, Williams J, Brown RH, Landers JE, Ticozzi N, Ceroni M, Pegoraro E, Comi GP, D'Alfonso S, van den Berg LH, Taroni F, Al-Chalabi A, Powell J, Silani V; SLAGEN Consortium and Collaborators.

Hum Mol Genet. 2014 Apr 15;23(8):2220-31. doi: 10.1093/hmg/ddt587. Epub 2013 Nov 20.

39.

No evidence of cardiomyopathy in spinal and bulbar muscular atrophy.

Querin G, Melacini P, D'Ascenzo C, Morandi L, Mazzini L, Silani V, Romito S, Mandrioli J, Raimondi M, Pegoraro E, Soraru' G.

Acta Neurol Scand. 2013 Dec;128(6):e30-2. doi: 10.1111/ane.12140. Epub 2013 May 16.

PMID:
23679084
40.

Pilot trial of clenbuterol in spinal and bulbar muscular atrophy.

Querin G, D'Ascenzo C, Peterle E, Ermani M, Bello L, Melacini P, Morandi L, Mazzini L, Silani V, Raimondi M, Mandrioli J, Romito S, Angelini C, Pegoraro E, Sorarù G.

Neurology. 2013 Jun 4;80(23):2095-8. doi: 10.1212/WNL.0b013e318295d766. Epub 2013 May 3.

PMID:
23645595
41.

Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.

Malena A, Pennuto M, Tezze C, Querin G, D'Ascenzo C, Silani V, Cenacchi G, Scaramozza A, Romito S, Morandi L, Pegoraro E, Russell AP, Sorarù G, Vergani L.

Acta Neuropathol. 2013 Jul;126(1):109-21. doi: 10.1007/s00401-013-1122-9. Epub 2013 May 4.

PMID:
23644820
42.

CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis.

Bruson A, Sambataro F, Querin G, D'Ascenzo C, Palmieri A, Agostini J, Gaiani A, Angelini C, Galbiati M, Poletti A, Pennuto M, Pegoraro E, Clementi M, Soraru G.

Eur J Neurol. 2012 Oct;19(10):1373-5. doi: 10.1111/j.1468-1331.2011.03646.x. Epub 2012 Jan 10.

PMID:
22233359
43.

Parkinson-like features in ALS with predominant upper motor neuron involvement.

D'Ascenzo C, Cecchin D, Santelli L, Palmieri A, Gaiani A, Querin G, Cima V, Volpe M, Bello L, Bui F, Cagnin A, Angelini C, Pegoraro E, Sorarù G.

Amyotroph Lateral Scler. 2012 Jan;13(1):137-43. doi: 10.3109/17482968.2011.603732. Epub 2011 Aug 28.

PMID:
21870999
44.

Genetic variation in KIFAP3 is associated with an upper motor neuron-predominant phenotype in amyotrophic lateral sclerosis.

Orsetti V, Pegoraro E, Cima V, D'Ascenzo C, Palmieri A, Querin G, Volpe M, Ermani M, Angelini C, Sorarù G.

Neurodegener Dis. 2011;8(6):491-5. doi: 10.1159/000327755. Epub 2011 Jun 9.

PMID:
21659726
45.

ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion.

Sorarù G, Clementi M, Forzan M, Orsetti V, D'Ascenzo C, Querin G, Palmieri A, Ermani M, Angelini C, Pegoraro E.

Neurology. 2011 Jun 7;76(23):2030-1. doi: 10.1212/WNL.0b013e31821e557a. No abstract available.

PMID:
21646631
46.

Right hemisphere dysfunction and emotional processing in ALS: an fMRI study.

Palmieri A, Naccarato M, Abrahams S, Bonato M, D'Ascenzo C, Balestreri S, Cima V, Querin G, Dal Borgo R, Barachino L, Volpato C, Semenza C, Pegoraro E, Angelini C, Sorarù G.

J Neurol. 2010 Dec;257(12):1970-8. doi: 10.1007/s00415-010-5640-2. Epub 2010 Jul 1.

PMID:
20593194
47.

Psychopathological features and suicidal ideation in amyotrophic lateral sclerosis patients.

Palmieri A, Sorarù G, Albertini E, Semenza C, Vottero-Ris F, D'Ascenzo C, Querin G, Zennaro A, Pegoraro E, Angelini C.

Neurol Sci. 2010 Dec;31(6):735-40. doi: 10.1007/s10072-010-0332-3. Epub 2010 Jun 3.

PMID:
20521074

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