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Epilepsy and .

Genes

Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G.
PMID: 34573299
Genes (Basel). 2021 Aug 26;12(9). doi: 10.3390/genes12091316.

OBJECTIVE: Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating METHODS: We performed an observational study, including 34 patients with molecularly confirmed diagnosis...

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Battaglia DI, Gambardella ML, Veltri S, et al. Epilepsy and . Genes (Basel). 2021;12(9)doi: 10.3390/genes12091316.
Battaglia, D. I., Gambardella, M. L., Veltri, S., Contaldo, I., Chillemi, G., Veredice, C., Quintiliani, M., Leoni, C., Onesimo, R., Verdolotti, T., Radio, F. C., Martinelli, D., Trivisano, M., Specchio, N., Dravet, C., Tartaglia, M., & Zampino, G. (2021). Epilepsy and . Genes, 12(9), . https://doi.org/10.3390/genes12091316
Battaglia, Domenica I, et al. "Epilepsy and ." Genes vol. 12,9 (2021). doi: https://doi.org/10.3390/genes12091316
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Epilepsy and . Genes (Basel). 2021 Aug 26;12(9). doi: 10.3390/genes12091316. PMID: 34573299; PMCID: PMC8470450.
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Vaccination and childhood epilepsies.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM.
PMID: 34922162
Eur J Paediatr Neurol. 2021 Dec 03;36:57-68. doi: 10.1016/j.ejpn.2021.11.014. Epub 2021 Dec 03.

INTRODUCTION: The evidence relating vaccination to febrile seizures and epilepsy is evaluated with an emphasis on febrile seizures (FS), Dravet syndrome (DS), West syndrome, and other developmental and epileptic encephalopathies.METHODS: A systematic literature review using search words vaccination/immunization AND...

Cite
Craiu D, Rener Primec Z, Lagae L, et al. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2021;36:57-68doi: 10.1016/j.ejpn.2021.11.014.
Craiu, D., Rener Primec, Z., Lagae, L., Vigevano, F., Trinka, E., Specchio, N., Bakhtadze, S., Cazacu, C., Golli, T., & Zuberi, S. M. (2021). Vaccination and childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 3657-68. https://doi.org/10.1016/j.ejpn.2021.11.014
Craiu, Dana, et al. "Vaccination and childhood epilepsies." European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 36 (2021): 57-68. doi: https://doi.org/10.1016/j.ejpn.2021.11.014
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2021 Dec 03;36:57-68. doi: 10.1016/j.ejpn.2021.11.014. Epub 2021 Dec 03. PMID: 34922162.
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Genotype-phenotype correlations in patients with de novo .

Neurology. Genetics

Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P.
PMID: 33659638
Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec.

OBJECTIVE: Early identification of de novo METHODS: Patients with de novo RESULTS: We included 34 patients with a mean age of 4.7 years. Median seizure onset was 2 days, mainly with focal seizures with autonomic signs. Twenty-two patients (65%)...

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Malerba F, Alberini G, Balagura G, et al. Genotype-phenotype correlations in patients with de novo . Neurol Genet. 2020;6(6):e528doi: 10.1212/NXG.0000000000000528.
Malerba, F., Alberini, G., Balagura, G., Marchese, F., Amadori, E., Riva, A., Vari, M. S., Gennaro, E., Madia, F., Salpietro, V., Angriman, M., Giordano, L., Accorsi, P., Trivisano, M., Specchio, N., Russo, A., Gobbi, G., Raviglione, F., Pisano, T., Marini, C., Mancardi, M. M., Nobili, L., Freri, E., Castellotti, B., Capovilla, G., Coppola, A., Verrotti, A., Martelli, P., Miceli, F., Maragliano, L., Benfenati, F., Cilio, M. R., Johannesen, K. M., Møller, R. S., Ceulemans, B., Minetti, C., Weckhuysen, S., Zara, F., Taglialatela, M., & Striano, P. (2020). Genotype-phenotype correlations in patients with de novo . Neurology. Genetics, 6(6), e528. https://doi.org/10.1212/NXG.0000000000000528
Malerba, Federica, et al. "Genotype-phenotype correlations in patients with de novo ." Neurology. Genetics vol. 6,6 (2020): e528. doi: https://doi.org/10.1212/NXG.0000000000000528
Malerba F, Alberini G, Balagura G, Marchese F, Amadori E, Riva A, Vari MS, Gennaro E, Madia F, Salpietro V, Angriman M, Giordano L, Accorsi P, Trivisano M, Specchio N, Russo A, Gobbi G, Raviglione F, Pisano T, Marini C, Mancardi MM, Nobili L, Freri E, Castellotti B, Capovilla G, Coppola A, Verrotti A, Martelli P, Miceli F, Maragliano L, Benfenati F, Cilio MR, Johannesen KM, Møller RS, Ceulemans B, Minetti C, Weckhuysen S, Zara F, Taglialatela M, Striano P. Genotype-phenotype correlations in patients with de novo . Neurol Genet. 2020 Nov 30;6(6):e528. doi: 10.1212/NXG.0000000000000528. eCollection 2020 Dec. PMID: 33659638; PMCID: PMC7803337.
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Diagnosis of myocardial infarction by emergency department physicians.

JAMA

Checchio LM.
PMID: 8459509
JAMA. 1993 Apr 14;269(14):1793.

No abstract available.

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Checchio LM. Diagnosis of myocardial infarction by emergency department physicians. JAMA. 1993;269(14):1793
Checchio, L. M. (1993). Diagnosis of myocardial infarction by emergency department physicians. JAMA, 269(14), 1793.
Checchio, L M. "Diagnosis of myocardial infarction by emergency department physicians." JAMA vol. 269,14 (1993): 1793.
Checchio LM. Diagnosis of myocardial infarction by emergency department physicians. JAMA. 1993 Apr 14;269(14):1793. PMID: 8459509.
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Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis.

Epilepsia

Sullivan J, Specchio N, Devinsky O, Auvin S, Perry MS, Strzelczyk A, Gil-Nagel A, Dai D, Galer BS, Gammaitoni AR.
PMID: 34676542
Epilepsia. 2021 Oct 22; doi: 10.1111/epi.17106. Epub 2021 Oct 22.

OBJECTIVE: The number, unpredictability, and severity of seizures experienced by patients with Dravet syndrome (DS) negatively impact quality of life (QOL) for patients, caregivers, and families. Metrics are needed to assess whether patients with residual seizures have moved meaningfully...

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Sullivan J, Specchio N, Devinsky O, et al. Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis. Epilepsia. 2021;doi: 10.1111/epi.17106.
Sullivan, J., Specchio, N., Devinsky, O., Auvin, S., Perry, M. S., Strzelczyk, A., Gil-Nagel, A., Dai, D., Galer, B. S., & Gammaitoni, A. R. (2021). Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis. Epilepsia, . https://doi.org/10.1111/epi.17106
Sullivan, Joseph, et al. "Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis." Epilepsia vol. (2021). doi: https://doi.org/10.1111/epi.17106
Sullivan J, Specchio N, Devinsky O, Auvin S, Perry MS, Strzelczyk A, Gil-Nagel A, Dai D, Galer BS, Gammaitoni AR. Fenfluramine significantly reduces day-to-day seizure burden by increasing number of seizure-free days and time between seizures in patients with Dravet syndrome: A time-to-event analysis. Epilepsia. 2021 Oct 22; doi: 10.1111/epi.17106. Epub 2021 Oct 22. PMID: 34676542.
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Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. .

Brain sciences

De Liso P, Pironi V, Mastrangelo M, Battaglia D, Craiu D, Trivisano M, Specchio N, Nabbout R, Vigevano F.
PMID: 34207311
Brain Sci. 2021 Jun 18;11(6). doi: 10.3390/brainsci11060811.

It has been an honor for us to receive a comment on our article "Fatal Status Epilepticus in Dravet Syndrome" [...].

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De Liso P, Pironi V, Mastrangelo M, et al. Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. . Brain Sci. 2021;11(6)doi: 10.3390/brainsci11060811.
De Liso, P., Pironi, V., Mastrangelo, M., Battaglia, D., Craiu, D., Trivisano, M., Specchio, N., Nabbout, R., & Vigevano, F. (2021). Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. . Brain sciences, 11(6), . https://doi.org/10.3390/brainsci11060811
De Liso, Paola, et al. "Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. ." Brain sciences vol. 11,6 (2021). doi: https://doi.org/10.3390/brainsci11060811
De Liso P, Pironi V, Mastrangelo M, Battaglia D, Craiu D, Trivisano M, Specchio N, Nabbout R, Vigevano F. Reply to Dravet, C. Different Outcomes of Acute Encephalopathy after Status Epilepticus in Patients with Dravet Syndrome. How to Avoid Them? Comment on "De Liso et al. Fatal Status Epilepticus in Dravet Syndrome. . Brain Sci. 2021 Jun 18;11(6). doi: 10.3390/brainsci11060811. PMID: 34207311; PMCID: PMC8234181.
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The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature.

Brain sciences

Pepi C, de Palma L, Trivisano M, Pietrafusa N, Lepri FR, Diociaiuti A, Camassei FD, Carfi-Pavia G, De Benedictis A, Rossi-Espagnet C, Vigevano F, Marras CE, Novelli A, Bluemcke I, Specchio N.
PMID: 34208656
Brain Sci. 2021 Jun 16;11(6). doi: 10.3390/brainsci11060793.

The rare nevus sebaceous (NS) syndrome (NSS) includes cortical malformations and drug-resistant epilepsy. Somatic RAS-pathway genetic variants are pathogenetic in NS, but not yet described within the brain of patients with NSS. We report on a 5-year-old boy with...

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Pepi C, de Palma L, Trivisano M, et al. The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. Brain Sci. 2021;11(6)doi: 10.3390/brainsci11060793.
Pepi, C., de Palma, L., Trivisano, M., Pietrafusa, N., Lepri, F. R., Diociaiuti, A., Camassei, F. D., Carfi-Pavia, G., De Benedictis, A., Rossi-Espagnet, C., Vigevano, F., Marras, C. E., Novelli, A., Bluemcke, I., & Specchio, N. (2021). The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. Brain sciences, 11(6), . https://doi.org/10.3390/brainsci11060793
Pepi, Chiara, et al. "The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature." Brain sciences vol. 11,6 (2021). doi: https://doi.org/10.3390/brainsci11060793
Pepi C, de Palma L, Trivisano M, Pietrafusa N, Lepri FR, Diociaiuti A, Camassei FD, Carfi-Pavia G, De Benedictis A, Rossi-Espagnet C, Vigevano F, Marras CE, Novelli A, Bluemcke I, Specchio N. The Role of KRAS Mutations in Cortical Malformation and Epilepsy Surgery: A Novel Report of Nevus Sebaceous Syndrome and Review of the Literature. Brain Sci. 2021 Jun 16;11(6). doi: 10.3390/brainsci11060793. PMID: 34208656; PMCID: PMC8234150.
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Phenotypic overlap and genetic challenges in neurodevelopmental disorders.

Developmental medicine and child neurology

Specchio N, Ferretti A.
PMID: 34495545
Dev Med Child Neurol. 2021 Dec;63(12):1368. doi: 10.1111/dmcn.15053. Epub 2021 Sep 08.

No abstract available.

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Specchio N, Ferretti A. Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Dev Med Child Neurol. 2021;63(12):1368doi: 10.1111/dmcn.15053.
Specchio, N., & Ferretti, A. (2021). Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Developmental medicine and child neurology, 63(12), 1368. https://doi.org/10.1111/dmcn.15053
Specchio, Nicola, and Ferretti, Alessandro. "Phenotypic overlap and genetic challenges in neurodevelopmental disorders." Developmental medicine and child neurology vol. 63,12 (2021): 1368. doi: https://doi.org/10.1111/dmcn.15053
Specchio N, Ferretti A. Phenotypic overlap and genetic challenges in neurodevelopmental disorders. Dev Med Child Neurol. 2021 Dec;63(12):1368. doi: 10.1111/dmcn.15053. Epub 2021 Sep 08. PMID: 34495545.
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Vaccination and childhood epilepsies.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM.
PMID: 34922162
Eur J Paediatr Neurol. 2022 Jan;36:57-68. doi: 10.1016/j.ejpn.2021.11.014. Epub 2021 Dec 03.

INTRODUCTION: The evidence relating vaccination to febrile seizures and epilepsy is evaluated with an emphasis on febrile seizures (FS), Dravet syndrome (DS), West syndrome, and other developmental and epileptic encephalopathies.METHODS: A systematic literature review using search words vaccination/immunization AND...

Cite
Craiu D, Rener Primec Z, Lagae L, et al. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2021;36:57-68doi: 10.1016/j.ejpn.2021.11.014.
Craiu, D., Rener Primec, Z., Lagae, L., Vigevano, F., Trinka, E., Specchio, N., Bakhtadze, S., Cazacu, C., Golli, T., & Zuberi, S. M. (2022). Vaccination and childhood epilepsies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 3657-68. https://doi.org/10.1016/j.ejpn.2021.11.014
Craiu, Dana, et al. "Vaccination and childhood epilepsies." European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 36 (2022): 57-68. doi: https://doi.org/10.1016/j.ejpn.2021.11.014
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM. Vaccination and childhood epilepsies. Eur J Paediatr Neurol. 2022 Jan;36:57-68. doi: 10.1016/j.ejpn.2021.11.014. Epub 2021 Dec 03. PMID: 34922162.
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Electroclinical markers to differentiate between focal and generalized epilepsies.

Epileptic disorders : international epilepsy journal with videotape

Raga S, Rheims S, Specchio N, Wilmshurst JM.
PMID: 34106053
Epileptic Disord. 2021 Jun 01;23(3):437-458. doi: 10.1684/epd.2021.1291.

Generalized-onset seizures originate at a point within the brain and rapidly engage bilaterally distributed networks, whilst focal-onset seizures originate within networks limited to one hemisphere which may be discretely localized or more widely distributed. Challenges in data capturing have...

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Raga S, Rheims S, Specchio N, et al. Electroclinical markers to differentiate between focal and generalized epilepsies. Epileptic Disord. 2021;23(3):437-458doi: 10.1684/epd.2021.1291.
Raga, S., Rheims, S., Specchio, N., & Wilmshurst, J. M. (2021). Electroclinical markers to differentiate between focal and generalized epilepsies. Epileptic disorders : international epilepsy journal with videotape, 23(3), 437-458. https://doi.org/10.1684/epd.2021.1291
Raga, Sharika, et al. "Electroclinical markers to differentiate between focal and generalized epilepsies." Epileptic disorders : international epilepsy journal with videotape vol. 23,3 (2021): 437-458. doi: https://doi.org/10.1684/epd.2021.1291
Raga S, Rheims S, Specchio N, Wilmshurst JM. Electroclinical markers to differentiate between focal and generalized epilepsies. Epileptic Disord. 2021 Jun 01;23(3):437-458. doi: 10.1684/epd.2021.1291. PMID: 34106053.
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[The integration of behavioral, social and environmental interventions in active prevention programmes: the case of childhood obesity].

Igiene e sanita pubblica

Cadeddu C, Specchia ML, Ricciardi W, Damiani G.
PMID: 25715895
Ig Sanita Pubbl. 2014 Nov-Dec;70(6):591-606.

Childhood obesity is one of the most important issues in Public Health so that the adoption of innovative preventive integrated approaches is increasingly needed. The presence of coordinated and integrated programmes, aimed at preventing childhood obesity and based on...

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Cadeddu C, Specchia ML, Ricciardi W, et al. L'integrazione degli interventi sulle modifiche comportamentali, sociali ed ambientali nei programmi di prevenzione attiva: il caso dell'obesità infantile. [The integration of behavioral, social and environmental interventions in active prevention programmes: the case of childhood obesity]. Ig Sanita Pubbl. 2014;70(6):591-606
Cadeddu, C., Specchia, M. L., Ricciardi, W., & Damiani, G. (2014). L'integrazione degli interventi sulle modifiche comportamentali, sociali ed ambientali nei programmi di prevenzione attiva: il caso dell'obesità infantile. [The integration of behavioral, social and environmental interventions in active prevention programmes: the case of childhood obesity]. Igiene e sanita pubblica, 70(6), 591-606.
Cadeddu, Chiara, et al. "L'integrazione degli interventi sulle modifiche comportamentali, sociali ed ambientali nei programmi di prevenzione attiva: il caso dell'obesità infantile." [The integration of behavioral, social and environmental interventions in active prevention programmes: the case of childhood obesity]. Igiene e sanita pubblica vol. 70,6 (2014): 591-606.
Cadeddu C, Specchia ML, Ricciardi W, Damiani G. L'integrazione degli interventi sulle modifiche comportamentali, sociali ed ambientali nei programmi di prevenzione attiva: il caso dell'obesità infantile. [The integration of behavioral, social and environmental interventions in active prevention programmes: the case of childhood obesity]. Ig Sanita Pubbl. 2014 Nov-Dec;70(6):591-606. Italian. PMID: 25715895.
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RETRACTED: Biopsychosocial intersections of social/affective touch and psychiatry: Implications of 'touch hunger' during COVID-19.

The International journal of social psychiatry

Banerjee D, Vasquez V, Pecchio M, Hegde ML, Ks Jagannatha R, Rao TS.
PMID: 33622067
Int J Soc Psychiatry. 2021 Feb 24;20764021997485. doi: 10.1177/0020764021997485. Epub 2021 Feb 24.

No abstract available.

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Banerjee D, Vasquez V, Pecchio M, et al. RETRACTED: Biopsychosocial intersections of social/affective touch and psychiatry: Implications of 'touch hunger' during COVID-19. Int J Soc Psychiatry. 2021;20764021997485doi: 10.1177/0020764021997485.
Banerjee, D., Vasquez, V., Pecchio, M., Hegde, M. L., Ks Jagannatha, R., & Rao, T. S. (2021). RETRACTED: Biopsychosocial intersections of social/affective touch and psychiatry: Implications of 'touch hunger' during COVID-19. The International journal of social psychiatry, 20764021997485. https://doi.org/10.1177/0020764021997485
Banerjee, Debanjan, et al. "RETRACTED: Biopsychosocial intersections of social/affective touch and psychiatry: Implications of 'touch hunger' during COVID-19." The International journal of social psychiatry vol. (2021): 20764021997485. doi: https://doi.org/10.1177/0020764021997485
Banerjee D, Vasquez V, Pecchio M, Hegde ML, Ks Jagannatha R, Rao TS. RETRACTED: Biopsychosocial intersections of social/affective touch and psychiatry: Implications of 'touch hunger' during COVID-19. Int J Soc Psychiatry. 2021 Feb 24;20764021997485. doi: 10.1177/0020764021997485. Epub 2021 Feb 24. PMID: 33622067.
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