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2018 Survey of factors associated with antimicrobial drug use and stewardship practices in adult cows on conventional California dairies: immediate post-Senate Bill 27 impact.

PeerJ

Ekong PS, Abdelfattah EM, Okello E, Williams DR, Lehenbauer TW, Karle BM, Rowe JD, Aly SS.
PMID: 34306825
PeerJ. 2021 Jul 13;9:e11596. doi: 10.7717/peerj.11596. eCollection 2021.

BACKGROUND: Antimicrobial drugs (AMD) are critical for the treatment, control, and prevention of diseases in humans and food-animals. Good AMD stewardship practices and judicious use of AMD are beneficial to the preservation of animal and human health from antimicrobial...

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Ekong PS, Abdelfattah EM, Okello E, et al. 2018 Survey of factors associated with antimicrobial drug use and stewardship practices in adult cows on conventional California dairies: immediate post-Senate Bill 27 impact. PeerJ. 2021;9:e11596doi: 10.7717/peerj.11596.
Ekong, P. S., Abdelfattah, E. M., Okello, E., Williams, D. R., Lehenbauer, T. W., Karle, B. M., Rowe, J. D., & Aly, S. S. (2021). 2018 Survey of factors associated with antimicrobial drug use and stewardship practices in adult cows on conventional California dairies: immediate post-Senate Bill 27 impact. PeerJ, 9e11596. https://doi.org/10.7717/peerj.11596
Ekong, Pius S, et al. "2018 Survey of factors associated with antimicrobial drug use and stewardship practices in adult cows on conventional California dairies: immediate post-Senate Bill 27 impact." PeerJ vol. 9 (2021): e11596. doi: https://doi.org/10.7717/peerj.11596
Ekong PS, Abdelfattah EM, Okello E, Williams DR, Lehenbauer TW, Karle BM, Rowe JD, Aly SS. 2018 Survey of factors associated with antimicrobial drug use and stewardship practices in adult cows on conventional California dairies: immediate post-Senate Bill 27 impact. PeerJ. 2021 Jul 13;9:e11596. doi: 10.7717/peerj.11596. eCollection 2021. PMID: 34306825; PMCID: PMC8284309.
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Irreducible anterior shoulder dislocation with interposition of the lesser tuberosity and subscapularis.

Trauma case reports

Ayoubi R, Najm T, Maalouly J, Aouad D, Kanj V, El Rassi G.
PMID: 33665321
Trauma Case Rep. 2021 Feb 18;32:100429. doi: 10.1016/j.tcr.2021.100429. eCollection 2021 Apr.

Anterior shoulder dislocation is the most common joint dislocation, unreducible dislocations however are a rare occurrence. The causes of the irreducibility vary, with interposition of soft tissues or bony fragments within the glenohumeral joint being the usual culprits. We...

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Ayoubi R, Najm T, Maalouly J, et al. Irreducible anterior shoulder dislocation with interposition of the lesser tuberosity and subscapularis. Trauma Case Rep. 2021;32:100429doi: 10.1016/j.tcr.2021.100429.
Ayoubi, R., Najm, T., Maalouly, J., Aouad, D., Kanj, V., & El Rassi, G. (2021). Irreducible anterior shoulder dislocation with interposition of the lesser tuberosity and subscapularis. Trauma case reports, 32100429. https://doi.org/10.1016/j.tcr.2021.100429
Ayoubi, Rami, et al. "Irreducible anterior shoulder dislocation with interposition of the lesser tuberosity and subscapularis." Trauma case reports vol. 32 (2021): 100429. doi: https://doi.org/10.1016/j.tcr.2021.100429
Ayoubi R, Najm T, Maalouly J, Aouad D, Kanj V, El Rassi G. Irreducible anterior shoulder dislocation with interposition of the lesser tuberosity and subscapularis. Trauma Case Rep. 2021 Feb 18;32:100429. doi: 10.1016/j.tcr.2021.100429. eCollection 2021 Apr. PMID: 33665321; PMCID: PMC7907528.
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Class I Myosins, molecular motors involved in cell migration and cancer.

Cell adhesion & migration

Diaz-Valencia JD, Estrada-Abreo LA, Rodríguez-Cruz L, Salgado-Aguayo AR, Patiño-López G.
PMID: 34974807
Cell Adh Migr. 2022 Dec;16(1):1-12. doi: 10.1080/19336918.2021.2020705.

Class I Myosins are a subfamily of motor proteins with ATPase activity and a characteristic structure conserved in all myosins: A N-Terminal Motor Domain, a central Neck and a C terminal Tail domain. Humans have eight genes for these...

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Diaz-Valencia JD, Estrada-Abreo LA, Rodríguez-Cruz L, et al. Class I Myosins, molecular motors involved in cell migration and cancer. Cell Adh Migr. 2022;16(1):1-12doi: 10.1080/19336918.2021.2020705.
Diaz-Valencia, J. D., Estrada-Abreo, L. A., Rodríguez-Cruz, L., Salgado-Aguayo, A. R., & Patiño-López, G. (2022). Class I Myosins, molecular motors involved in cell migration and cancer. Cell adhesion & migration, 16(1), 1-12. https://doi.org/10.1080/19336918.2021.2020705
Diaz-Valencia, Juan D, et al. "Class I Myosins, molecular motors involved in cell migration and cancer." Cell adhesion & migration vol. 16,1 (2022): 1-12. doi: https://doi.org/10.1080/19336918.2021.2020705
Diaz-Valencia JD, Estrada-Abreo LA, Rodríguez-Cruz L, Salgado-Aguayo AR, Patiño-López G. Class I Myosins, molecular motors involved in cell migration and cancer. Cell Adh Migr. 2022 Dec;16(1):1-12. doi: 10.1080/19336918.2021.2020705. PMID: 34974807; PMCID: PMC8741282.
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Phosphatidylserine Receptors Enhance SARS-CoV-2 Infection: AXL as a Therapeutic Target for COVID-19.

bioRxiv : the preprint server for biology

Bohan D, Ert HV, Ruggio N, Rogers KJ, Badreddine M, Aguilar Briseño JA, Rojas Chavez RA, Gao B, Stokowy T, Christakou E, Micklem D, Gausdal G, Haim H, Minna J, Lorens JB, Maury W.
PMID: 34159331
bioRxiv. 2021 Jun 24; doi: 10.1101/2021.06.15.448419.

Phosphatidylserine (PS) receptors are PS binding proteins that mediate uptake of apoptotic bodies. Many enveloped viruses utilize this PS/PS receptor mechanism to adhere to and internalize into the endosomal compartment of cells and this is termed apoptotic mimicry. For...

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Bohan D, Ert HV, Ruggio N, et al. Phosphatidylserine Receptors Enhance SARS-CoV-2 Infection: AXL as a Therapeutic Target for COVID-19. bioRxiv. 2021;doi: 10.1101/2021.06.15.448419.
Bohan, D., Ert, H. V., Ruggio, N., Rogers, K. J., Badreddine, M., Aguilar Briseño, J. A., Rojas Chavez, R. A., Gao, B., Stokowy, T., Christakou, E., Micklem, D., Gausdal, G., Haim, H., Minna, J., Lorens, J. B., & Maury, W. (2021). Phosphatidylserine Receptors Enhance SARS-CoV-2 Infection: AXL as a Therapeutic Target for COVID-19. bioRxiv : the preprint server for biology, . https://doi.org/10.1101/2021.06.15.448419
Bohan, Dana, et al. "Phosphatidylserine Receptors Enhance SARS-CoV-2 Infection: AXL as a Therapeutic Target for COVID-19." bioRxiv : the preprint server for biology vol. (2021). doi: https://doi.org/10.1101/2021.06.15.448419
Bohan D, Ert HV, Ruggio N, Rogers KJ, Badreddine M, Aguilar Briseño JA, Rojas Chavez RA, Gao B, Stokowy T, Christakou E, Micklem D, Gausdal G, Haim H, Minna J, Lorens JB, Maury W. Phosphatidylserine Receptors Enhance SARS-CoV-2 Infection: AXL as a Therapeutic Target for COVID-19. bioRxiv. 2021 Jun 24; doi: 10.1101/2021.06.15.448419. PMID: 34159331; PMCID: PMC8219095.
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Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients.

Pain reports

Sieberg CB, Taras C, Gomaa A, Nickerson C, Wong C, Ward C, Baskozos G, Bennett DLH, Ramirez JD, Themistocleous AC, Rice ASC, Shillo PR, Tesfaye S, Edwards RR, Andrews NA, Berde C, Costigan M.
PMID: 29922743
Pain Rep. 2018 May 24;3(3):e651. doi: 10.1097/PR9.0000000000000651. eCollection 2018 May.

BACKGROUND: Epidemiological studies in patients with neuropathic pain demonstrate a strong association with psychiatric conditions such as anxiety; however, the precipitating pathology between these symptoms remains unclear. To investigate this, we studied the effects of lifelong stress on levels...

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Sieberg CB, Taras C, Gomaa A, et al. Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients. Pain Rep. 2018;3(3):e651doi: 10.1097/PR9.0000000000000651.
Sieberg, C. B., Taras, C., Gomaa, A., Nickerson, C., Wong, C., Ward, C., Baskozos, G., Bennett, D. L. H., Ramirez, J. D., Themistocleous, A. C., Rice, A. S. C., Shillo, P. R., Tesfaye, S., Edwards, R. R., Andrews, N. A., Berde, C., & Costigan, M. (2018). Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients. Pain reports, 3(3), e651. https://doi.org/10.1097/PR9.0000000000000651
Sieberg, Christine B, et al. "Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients." Pain reports vol. 3,3 (2018): e651. doi: https://doi.org/10.1097/PR9.0000000000000651
Sieberg CB, Taras C, Gomaa A, Nickerson C, Wong C, Ward C, Baskozos G, Bennett DLH, Ramirez JD, Themistocleous AC, Rice ASC, Shillo PR, Tesfaye S, Edwards RR, Andrews NA, Berde C, Costigan M. Neuropathic pain drives anxiety behavior in mice, results consistent with anxiety levels in diabetic neuropathy patients. Pain Rep. 2018 May 24;3(3):e651. doi: 10.1097/PR9.0000000000000651. eCollection 2018 May. PMID: 29922743; PMCID: PMC5999418.
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Multiplexed Cross-Linking with Isobaric Quantitative Protein Interaction Reporter Technology.

Analytical chemistry

Chavez JD, Keller A, Wippel HH, Mohr JP, Bruce JE.
PMID: 34882395
Anal Chem. 2021 Dec 21;93(50):16759-16768. doi: 10.1021/acs.analchem.1c02209. Epub 2021 Dec 09.

Chemical cross-linking with mass spectrometry (XL-MS) has emerged as a useful technique for interrogating protein structures and interactions. When combined with quantitative proteomics strategies, protein conformational and interaction dynamics can be probed. Quantitative XL-MS has been demonstrated with the...

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Chavez JD, Keller A, Wippel HH, et al. Multiplexed Cross-Linking with Isobaric Quantitative Protein Interaction Reporter Technology. Anal Chem. 2021;93(50):16759-16768doi: 10.1021/acs.analchem.1c02209.
Chavez, J. D., Keller, A., Wippel, H. H., Mohr, J. P., & Bruce, J. E. (2021). Multiplexed Cross-Linking with Isobaric Quantitative Protein Interaction Reporter Technology. Analytical chemistry, 93(50), 16759-16768. https://doi.org/10.1021/acs.analchem.1c02209
Chavez, Juan D, et al. "Multiplexed Cross-Linking with Isobaric Quantitative Protein Interaction Reporter Technology." Analytical chemistry vol. 93,50 (2021): 16759-16768. doi: https://doi.org/10.1021/acs.analchem.1c02209
Chavez JD, Keller A, Wippel HH, Mohr JP, Bruce JE. Multiplexed Cross-Linking with Isobaric Quantitative Protein Interaction Reporter Technology. Anal Chem. 2021 Dec 21;93(50):16759-16768. doi: 10.1021/acs.analchem.1c02209. Epub 2021 Dec 09. PMID: 34882395.
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Neuronal mechanisms underlying opioid-induced respiratory depression: our current understanding.

Journal of neurophysiology

Ramirez JM, Burgraff NJ, Wei AD, Baertsch NA, Varga AG, Baghdoyan HA, Lydic R, Morris KF, Bolser DC, Levitt ES.
PMID: 33826874
J Neurophysiol. 2021 May 01;125(5):1899-1919. doi: 10.1152/jn.00017.2021. Epub 2021 Apr 07.

Opioid-induced respiratory depression (OIRD) represents the primary cause of death associated with therapeutic and recreational opioid use. Within the United States, the rate of death from opioid abuse since the early 1990s has grown disproportionally, prompting the classification as...

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Ramirez JM, Burgraff NJ, Wei AD, et al. Neuronal mechanisms underlying opioid-induced respiratory depression: our current understanding. J Neurophysiol. 2021;125(5):1899-1919doi: 10.1152/jn.00017.2021.
Ramirez, J. M., Burgraff, N. J., Wei, A. D., Baertsch, N. A., Varga, A. G., Baghdoyan, H. A., Lydic, R., Morris, K. F., Bolser, D. C., & Levitt, E. S. (2021). Neuronal mechanisms underlying opioid-induced respiratory depression: our current understanding. Journal of neurophysiology, 125(5), 1899-1919. https://doi.org/10.1152/jn.00017.2021
Ramirez, Jan-Marino, et al. "Neuronal mechanisms underlying opioid-induced respiratory depression: our current understanding." Journal of neurophysiology vol. 125,5 (2021): 1899-1919. doi: https://doi.org/10.1152/jn.00017.2021
Ramirez JM, Burgraff NJ, Wei AD, Baertsch NA, Varga AG, Baghdoyan HA, Lydic R, Morris KF, Bolser DC, Levitt ES. Neuronal mechanisms underlying opioid-induced respiratory depression: our current understanding. J Neurophysiol. 2021 May 01;125(5):1899-1919. doi: 10.1152/jn.00017.2021. Epub 2021 Apr 07. PMID: 33826874; PMCID: PMC8424565.
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Enhancing electrocardiographic analysis by combining a high-resolution 12-lead ECG with novel software tools.

Journal of electrocardiology

Barcos JC, Humphreys JD, Tello Santacruz IA, Guzman JP, Fernández Recalde ML, Avaca HA, Cáceres Monié CR.
PMID: 34929607
J Electrocardiol. 2021 Dec 11;70:70-74. doi: 10.1016/j.jelectrocard.2021.12.001. Epub 2021 Dec 11.

INTRODUCTION: Signal-averaged electrocardiography is a non-invasive, computerized technique that amplifies, filters, and averages cardiac electrical signals reducing contaminating noise to obtain a high-resolution record. The most widely used signal averaging (SA) method involves a bipolar X, Y, and Z...

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Barcos JC, Humphreys JD, Tello Santacruz IA, et al. Enhancing electrocardiographic analysis by combining a high-resolution 12-lead ECG with novel software tools. J Electrocardiol. 2021;70:70-74doi: 10.1016/j.jelectrocard.2021.12.001.
Barcos, J. C., Humphreys, J. D., Tello Santacruz, I. A., Guzman, J. P., Fernández Recalde, M. L., Avaca, H. A., & Cáceres Monié, C. R. (2021). Enhancing electrocardiographic analysis by combining a high-resolution 12-lead ECG with novel software tools. Journal of electrocardiology, 7070-74. https://doi.org/10.1016/j.jelectrocard.2021.12.001
Barcos, Javier C, et al. "Enhancing electrocardiographic analysis by combining a high-resolution 12-lead ECG with novel software tools." Journal of electrocardiology vol. 70 (2021): 70-74. doi: https://doi.org/10.1016/j.jelectrocard.2021.12.001
Barcos JC, Humphreys JD, Tello Santacruz IA, Guzman JP, Fernández Recalde ML, Avaca HA, Cáceres Monié CR. Enhancing electrocardiographic analysis by combining a high-resolution 12-lead ECG with novel software tools. J Electrocardiol. 2021 Dec 11;70:70-74. doi: 10.1016/j.jelectrocard.2021.12.001. Epub 2021 Dec 11. PMID: 34929607.
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Dynamic queuosine changes in tRNA couple nutrient levels to codon choice in Trypanosoma brucei.

Nucleic acids research

Dixit S, Kessler AC, Henderson J, Pan X, Zhao R, D'Almeida GS, Kulkarni S, Rubio MAT, Hegedűsová E, Ross RL, Limbach PA, Green BD, Paris Z, Alfonzo JD.
PMID: 34883512
Nucleic Acids Res. 2021 Dec 16;49(22):12986-12999. doi: 10.1093/nar/gkab1204.

Every type of nucleic acid in cells undergoes programmed chemical post-transcriptional modification. Generally, modification enzymes use substrates derived from intracellular metabolism, one exception is queuine (q)/queuosine (Q), which eukaryotes obtain from their environment; made by bacteria and ultimately taken...

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Dixit S, Kessler AC, Henderson J, et al. Dynamic queuosine changes in tRNA couple nutrient levels to codon choice in Trypanosoma brucei. Nucleic Acids Res. 2021;49(22):12986-12999doi: 10.1093/nar/gkab1204.
Dixit, S., Kessler, A. C., Henderson, J., Pan, X., Zhao, R., D'Almeida, G. S., Kulkarni, S., Rubio, M. A. T., Hegedűsová, E., Ross, R. L., Limbach, P. A., Green, B. D., Paris, Z., & Alfonzo, J. D. (2021). Dynamic queuosine changes in tRNA couple nutrient levels to codon choice in Trypanosoma brucei. Nucleic acids research, 49(22), 12986-12999. https://doi.org/10.1093/nar/gkab1204
Dixit, Sameer, et al. "Dynamic queuosine changes in tRNA couple nutrient levels to codon choice in Trypanosoma brucei." Nucleic acids research vol. 49,22 (2021): 12986-12999. doi: https://doi.org/10.1093/nar/gkab1204
Dixit S, Kessler AC, Henderson J, Pan X, Zhao R, D'Almeida GS, Kulkarni S, Rubio MAT, Hegedűsová E, Ross RL, Limbach PA, Green BD, Paris Z, Alfonzo JD. Dynamic queuosine changes in tRNA couple nutrient levels to codon choice in Trypanosoma brucei. Nucleic Acids Res. 2021 Dec 16;49(22):12986-12999. doi: 10.1093/nar/gkab1204. PMID: 34883512; PMCID: PMC8682783.
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Energetic dysfunction in sepsis: a narrative review.

Annals of intensive care

Preau S, Vodovar D, Jung B, Lancel S, Zafrani L, Flatres A, Oualha M, Voiriot G, Jouan Y, Joffre J, Uhel F, De Prost N, Silva S, Azabou E, Radermacher P.
PMID: 34216304
Ann Intensive Care. 2021 Jul 03;11(1):104. doi: 10.1186/s13613-021-00893-7.

BACKGROUND: Growing evidence associates organ dysfunction(s) with impaired metabolism in sepsis. Recent research has increased our understanding of the role of substrate utilization and mitochondrial dysfunction in the pathophysiology of sepsis-related organ dysfunction. The purpose of this review is...

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Preau S, Vodovar D, Jung B, et al. Energetic dysfunction in sepsis: a narrative review. Ann Intensive Care. 2021;11(1):104doi: 10.1186/s13613-021-00893-7.
Preau, S., Vodovar, D., Jung, B., Lancel, S., Zafrani, L., Flatres, A., Oualha, M., Voiriot, G., Jouan, Y., Joffre, J., Uhel, F., De Prost, N., Silva, S., Azabou, E., & Radermacher, P. (2021). Energetic dysfunction in sepsis: a narrative review. Annals of intensive care, 11(1), 104. https://doi.org/10.1186/s13613-021-00893-7
Preau, Sebastien, et al. "Energetic dysfunction in sepsis: a narrative review." Annals of intensive care vol. 11,1 (2021): 104. doi: https://doi.org/10.1186/s13613-021-00893-7
Preau S, Vodovar D, Jung B, Lancel S, Zafrani L, Flatres A, Oualha M, Voiriot G, Jouan Y, Joffre J, Uhel F, De Prost N, Silva S, Azabou E, Radermacher P. Energetic dysfunction in sepsis: a narrative review. Ann Intensive Care. 2021 Jul 03;11(1):104. doi: 10.1186/s13613-021-00893-7. PMID: 34216304; PMCID: PMC8254847.
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Fam72a enforces error-prone DNA repair during antibody diversification.

Nature

Rogier M, Moritz J, Robert I, Lescale C, Heyer V, Abello A, Martin O, Capitani K, Thomas M, Thomas-Claudepierre AS, Laffleur B, Jouan F, Pinaud E, Tarte K, Cogné M, Conticello SG, Soutoglou E, Deriano L, Reina-San-Martin B.
PMID: 34819671
Nature. 2021 Dec;600(7888):329-333. doi: 10.1038/s41586-021-04093-y. Epub 2021 Nov 24.

Efficient humoral responses rely on DNA damage, mutagenesis and error-prone DNA repair. Diversification of B cell receptors through somatic hypermutation and class-switch recombination are initiated by cytidine deamination in DNA mediated by activation-induced cytidine deaminase (AID)

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Rogier M, Moritz J, Robert I, et al. Fam72a enforces error-prone DNA repair during antibody diversification. Nature. 2021;600(7888):329-333doi: 10.1038/s41586-021-04093-y.
Rogier, M., Moritz, J., Robert, I., Lescale, C., Heyer, V., Abello, A., Martin, O., Capitani, K., Thomas, M., Thomas-Claudepierre, A. S., Laffleur, B., Jouan, F., Pinaud, E., Tarte, K., Cogné, M., Conticello, S. G., Soutoglou, E., Deriano, L., & Reina-San-Martin, B. (2021). Fam72a enforces error-prone DNA repair during antibody diversification. Nature, 600(7888), 329-333. https://doi.org/10.1038/s41586-021-04093-y
Rogier, Mélanie, et al. "Fam72a enforces error-prone DNA repair during antibody diversification." Nature vol. 600,7888 (2021): 329-333. doi: https://doi.org/10.1038/s41586-021-04093-y
Rogier M, Moritz J, Robert I, Lescale C, Heyer V, Abello A, Martin O, Capitani K, Thomas M, Thomas-Claudepierre AS, Laffleur B, Jouan F, Pinaud E, Tarte K, Cogné M, Conticello SG, Soutoglou E, Deriano L, Reina-San-Martin B. Fam72a enforces error-prone DNA repair during antibody diversification. Nature. 2021 Dec;600(7888):329-333. doi: 10.1038/s41586-021-04093-y. Epub 2021 Nov 24. PMID: 34819671.
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[No title available]

Neurology. Genetics

Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G.
PMID: 34790866
Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec.

BACKGROUND AND OBJECTIVES: Purine-rich element-binding protein A (METHODS: Data on unpublished and published cases were collected through the RESULTS: A cohort of 142 patients was included. Characteristics of the DISCUSSION: The

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Johannesen KM, Gardella E, Gjerulfsen CE, et al. . Neurol Genet. 2021;7(6):e613doi: 10.1212/NXG.0000000000000613.
Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., Wierenga, K. J., Isidor, B., Piton, A., Faivre, L., Garde, A., Moutton, S., Tran-Mau-Them, F., Denommé-Pichon, A. S., Coubes, C., Larson, A., Esser, M. J., Appendino, J. P., Al-Hertani, W., Gamboni, B., Mampel, A., Mayorga, L., Orsini, A., Bonuccelli, A., Suppiej, A., Van-Gils, J., Vogt, J., Damioli, S., Giordano, L., Moortgat, S., Wirrell, E., Hicks, S., Kini, U., Noble, N., Stewart, H., Asakar, S., Cohen, J. S., Naidu, S. R., Collier, A., Brilstra, E. H., Li, M. H., Brew, C., Bigoni, S., Ognibene, D., Ballardini, E., Ruivenkamp, C., Faggioli, R., Afenjar, A., Rodriguez, D., Bick, D., Segal, D., Coman, D., Gunning, B., Devinsky, O., Demmer, L. A., Grebe, T., Pruna, D., Cursio, I., Greenhalgh, L., Graziano, C., Singh, R. R., Cantalupo, G., Willems, M., Yoganathan, S., Góes, F., Leventer, R. J., Colavito, D., Olivotto, S., Scelsa, B., Andrade, A. V., Ratke, K., Tokarz, F., Khan, A. S., Ormieres, C., Benko, W., Keough, K., Keros, S., Hussain, S., Franques, A., Varsalone, F., Grønborg, S., Mignot, C., Heron, D., Nava, C., Isapof, A., Borlot, F., Whitney, R., Ronan, A., Foulds, N., Somorai, M., Brandsema, J., Helbig, K. L., Helbig, I., Ortiz-González, X. R., Dubbs, H., Vitobello, A., Anderson, M., Spadafore, D., Hunt, D., Møller, R. S., Rubboli, G. (2021). . Neurology. Genetics, 7(6), e613. https://doi.org/10.1212/NXG.0000000000000613
Johannesen, Katrine M, et al. "." Neurology. Genetics vol. 7,6 (2021): e613. doi: https://doi.org/10.1212/NXG.0000000000000613
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G. . Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. PMID: 34790866; PMCID: PMC8592566.
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