GIAI, CONSTANZA; SALASSA, BETIANA NEBAÍ; ZARELLI, VALERIA EUGENIA; BELLO, OSCAR DANIEL; VANRELL, MARÍA CRISTINA; OJEDA, DIEGO SEBASTIAN; GAMARNIK, ANDREA; COLOMBO, MARÍA ISABEL

Comparative analysis of humoral immune response upon the three first vaccines applied in Argentina: IgG production and neutralizing capacity against SARS-CoV-2

Heliyon; Año: 2023 vol. 9

GIAI, CONSTANZA; SALASSA, BETIANA NEBAÍ; ZARELLI, VALERIA EUGENIA; BELLO, OSCAR DANIEL; VANRELL, MARÍA CRISTINA; OJEDA, DIEGO SEBASTIAN; GAMARNIK, ANDREA; COLOMBO, MARÍA ISABEL

Comparative analysis of humoral immune response upon the three first vaccines applied in Argentina: IgG production and neutralizing capacity against SARS-CoV-2

Heliyon; Año: 2023 vol. 9

GIAI, CONSTANZA; SALASSA, BETIANA NEBAÍ; ZARELLI, VALERIA EUGENIA; BELLO, OSCAR DANIEL; VANRELL, MARÍA CRISTINA; OJEDA, DIEGO SEBASTIAN; GAMARNIK, ANDREA; COLOMBO, MARÍA ISABEL

Comparative analysis of humoral immune response upon the three first vaccines applied in Argentina: IgG production and neutralizing capacity against SARS-CoV-2

Heliyon; Año: 2023 vol. 9

NEURAY, CAROLINE; MAROOFIAN, REZA; SCALA, MARCELLO; SULTAN, TIPU; PAI, GURPUR S; MOJARRAD, MAJID; KHASHAB, HEBA EL; DEHOLL, LEIGH; YUE, WYATT; ALSAIF, HESSA S; ZANETTI, MARIA N; BELLO, OSCAR; PERSON, RICHARD; ESLAHI, ATIEH; KHAZAEI, ZAYNAB; FEIZABADI, MASOUMEH H; EFTHYMIOU, STEPHANIE; GROPPA, STANISLAV; KARASHOVA, BLAGOVESTA MARINOVA; NACHBAUER, WOLFGANG; BOESCH, SYLVIA; ARNING, LARISSA; TIMMANN, DAGMAR; CORMAND, BRU; PÉREZ-DUEÑAS, BELEN; DI ROSA, GABRIELLA; GORAYA, JATINDER S; MINE, JUN; AVDJIEVA, DANIELA; KATHOM, HADIL; TINCHEVA, RADKA; BANU, SELINA; PINEDA-MARFA, MERCEDES; VEGGIOTTI, PIERANGELO; FERRARI, MICHEL D; VERROTTI, ALBERTO; MARSEGLIA, GIANGLUIGI; SAVASTA, SALVATORE; GARCÍA-SILVA, MAYTE; MACAYA RUIZ, ALFONS; GARAVAGLIA, BARBARA; BORGIONE, EUGENIA; PORTARO, SIMONA; SANCHEZ, BENIGNO MONTEAGUDO; BOLES, RICHARD; PAPACOSTAS, SAVVAS; VIKELIS, MICHAIL; PAPANICOLAOU, ELENI ZAMBA; SALPIETRO, VINCENZO; JAMSHIDI, YALDA; ALKURAYA, FOWZAN S; HOULDEN, HENRY

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

BRAIN; Año: 2020 vol. 143 p. 2388 - 2397

GRUGET, CLÉMENCE; BELLO, OSCAR; COLEMAN, JEFF; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain

Scientific Reports; Año: 2020 vol. 10

TAGLIATTI, ERICA; BELLO, OSCAR D.; MENDONÇA, PHILIPE R. F.; KOTZADIMITRIOU, DIMITRIOS; NICHOLSON, ELIZABETH; COLEMAN, JEFF; TIMOFEEVA, YULIA; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.; VOLYNSKI, KIRILL E.

Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2020 vol. 117 p. 3819 - 3827

GRUGET, CLÉMENCE; BELLO, OSCAR; COLEMAN, JEFF; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain

Scientific Reports; Año: 2020 vol. 10

NEURAY, CAROLINE; MAROOFIAN, REZA; SCALA, MARCELLO; SULTAN, TIPU; PAI, GURPUR S; MOJARRAD, MAJID; KHASHAB, HEBA EL; DEHOLL, LEIGH; YUE, WYATT; ALSAIF, HESSA S; ZANETTI, MARIA N; BELLO, OSCAR; PERSON, RICHARD; ESLAHI, ATIEH; KHAZAEI, ZAYNAB; FEIZABADI, MASOUMEH H; EFTHYMIOU, STEPHANIE; GROPPA, STANISLAV; KARASHOVA, BLAGOVESTA MARINOVA; NACHBAUER, WOLFGANG; BOESCH, SYLVIA; ARNING, LARISSA; TIMMANN, DAGMAR; CORMAND, BRU; PÉREZ-DUEÑAS, BELEN; DI ROSA, GABRIELLA; GORAYA, JATINDER S; MINE, JUN; AVDJIEVA, DANIELA; KATHOM, HADIL; TINCHEVA, RADKA; BANU, SELINA; PINEDA-MARFA, MERCEDES; VEGGIOTTI, PIERANGELO; FERRARI, MICHEL D; VERROTTI, ALBERTO; MARSEGLIA, GIANGLUIGI; SAVASTA, SALVATORE; GARCÍA-SILVA, MAYTE; MACAYA RUIZ, ALFONS; GARAVAGLIA, BARBARA; BORGIONE, EUGENIA; PORTARO, SIMONA; SANCHEZ, BENIGNO MONTEAGUDO; BOLES, RICHARD; PAPACOSTAS, SAVVAS; VIKELIS, MICHAIL; PAPANICOLAOU, ELENI ZAMBA; SALPIETRO, VINCENZO; JAMSHIDI, YALDA; ALKURAYA, FOWZAN S; HOULDEN, HENRY

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

BRAIN; Año: 2020 vol. 143 p. 2388 - 2397

TAGLIATTI, ERICA; BELLO, OSCAR D.; MENDONÇA, PHILIPE R. F.; KOTZADIMITRIOU, DIMITRIOS; NICHOLSON, ELIZABETH; COLEMAN, JEFF; TIMOFEEVA, YULIA; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.; VOLYNSKI, KIRILL E.

Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2020 vol. 117 p. 3819 - 3827

GRUGET, CLÉMENCE; BELLO, OSCAR; COLEMAN, JEFF; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain

Scientific Reports; Año: 2020 vol. 10

NEURAY, CAROLINE; MAROOFIAN, REZA; SCALA, MARCELLO; SULTAN, TIPU; PAI, GURPUR S; MOJARRAD, MAJID; KHASHAB, HEBA EL; DEHOLL, LEIGH; YUE, WYATT; ALSAIF, HESSA S; ZANETTI, MARIA N; BELLO, OSCAR; PERSON, RICHARD; ESLAHI, ATIEH; KHAZAEI, ZAYNAB; FEIZABADI, MASOUMEH H; EFTHYMIOU, STEPHANIE; GROPPA, STANISLAV; KARASHOVA, BLAGOVESTA MARINOVA; NACHBAUER, WOLFGANG; BOESCH, SYLVIA; ARNING, LARISSA; TIMMANN, DAGMAR; CORMAND, BRU; PÉREZ-DUEÑAS, BELEN; DI ROSA, GABRIELLA; GORAYA, JATINDER S; MINE, JUN; AVDJIEVA, DANIELA; KATHOM, HADIL; TINCHEVA, RADKA; BANU, SELINA; PINEDA-MARFA, MERCEDES; VEGGIOTTI, PIERANGELO; FERRARI, MICHEL D; VERROTTI, ALBERTO; MARSEGLIA, GIANGLUIGI; SAVASTA, SALVATORE; GARCÍA-SILVA, MAYTE; MACAYA RUIZ, ALFONS; GARAVAGLIA, BARBARA; BORGIONE, EUGENIA; PORTARO, SIMONA; SANCHEZ, BENIGNO MONTEAGUDO; BOLES, RICHARD; PAPACOSTAS, SAVVAS; VIKELIS, MICHAIL; PAPANICOLAOU, ELENI ZAMBA; SALPIETRO, VINCENZO; JAMSHIDI, YALDA; ALKURAYA, FOWZAN S; HOULDEN, HENRY

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

BRAIN; Año: 2020 vol. 143 p. 2388 - 2397

TAGLIATTI, ERICA; BELLO, OSCAR D.; MENDONÇA, PHILIPE R. F.; KOTZADIMITRIOU, DIMITRIOS; NICHOLSON, ELIZABETH; COLEMAN, JEFF; TIMOFEEVA, YULIA; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.; VOLYNSKI, KIRILL E.

Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2020 vol. 117 p. 3819 - 3827

CHELBAN, VIORICA; WILSON, MATTHEW P.; WARMAN CHARDON, JODI; VANDROVCOVA, JANA; ZANETTI, M. NATALIA; ZAMBA-PAPANICOLAOU, ELENI; EFTHYMIOU, STEPHANIE; POPE, SIMON; CONTE, MARIA R; ABIS, GIANCARLO; LIU, YO-TSEN; TRIBOLLET, ELOISE; HARIDY, NOURELHODA A.; BOTÍA, JUAN A; RYTEN, MINA; NICOLAOU, PASCHALIS; MINAIDOU, ANNA; CHRISTODOULOU, KYPROULA; KERNOHAN, KRISTIN D.; EATON, ALISON; OSMOND, MATTHEW; ITO, YOKO; BOURQUE, PIERRE; JEPSON, JAMES E.C.; BELLO, OSCAR; BREMNER, FION; CORDIVARI, CARLA; REILLY, MARY M.; FOIANI, MARTHA; HESLEGRAVE, AMANDA; ZETTERBERG, HENRIK; HEALES, SIMON J.R.; WOOD, NICHOLAS W.; ROTHMAN, JAMES E.; BOYCOTT, KYM M; MILLS, PHILIPPA B.; CLAYTON, PETER T.; HOULDEN, HENRY

PDXK mutations cause polyneuropathy responsive to PLP supplementation

ANNALS OF NEUROLOGY; Lugar: New York; Año: 2019

SALPIETRO, VINCENZO; MALINTAN, NANCY T.; LLANO-RIVAS, ISABEL; SPAETH, CHRISTINE G.; EFTHYMIOU, STEPHANIE; STRIANO, PASQUALE; VANDROVCOVA, JANA; CUTRUPI, MARIA C.; CHIMENZ, ROBERTO; DAVID, EMANUELE; DI ROSA, GABRIELLA; MARCE-GRAU, ANNA; RASPALL-CHAURE, MIQUEL; MARTIN-HERNANDEZ, ELENA; ZARA, FEDERICO; MINETTI, CARLO; BELLO, OSCAR D.; DE ZORZI, RITA; FORTUNA, SARA; DAUBER, ANDREW; ALKHAWAJA, MARIAM; SULTAN, TIPU; MANKAD, KSHITIJ; VITOBELLO, ANTONIO; THOMAS, QUENTIN; MAU-THEM, FREDERIC TRAN; FAIVRE, LAURENCE; MARTINEZ-AZORIN, FRANCISCO; PRADA, CARLOS E.; MACAYA, ALFONS; KULLMANN, DIMITRI M.; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.; HOULDEN, HENRY

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

AMERICAN JOURNAL OF HUMAN GENETICS; Lugar: United States; Año: 2019

CHELBAN, VIORICA; WILSON, MATTHEW P.; WARMAN CHARDON, JODI; VANDROVCOVA, JANA; ZANETTI, M. NATALIA; ZAMBA-PAPANICOLAOU, ELENI; EFTHYMIOU, STEPHANIE; POPE, SIMON; CONTE, MARIA R; ABIS, GIANCARLO; LIU, YO-TSEN; TRIBOLLET, ELOISE; HARIDY, NOURELHODA A.; BOTÍA, JUAN A; RYTEN, MINA; NICOLAOU, PASCHALIS; MINAIDOU, ANNA; CHRISTODOULOU, KYPROULA; KERNOHAN, KRISTIN D.; EATON, ALISON; OSMOND, MATTHEW; ITO, YOKO; BOURQUE, PIERRE; JEPSON, JAMES E.C.; BELLO, OSCAR; BREMNER, FION; CORDIVARI, CARLA; REILLY, MARY M.; FOIANI, MARTHA; HESLEGRAVE, AMANDA; ZETTERBERG, HENRIK; HEALES, SIMON J.R.; WOOD, NICHOLAS W.; ROTHMAN, JAMES E.; BOYCOTT, KYM M; MILLS, PHILIPPA B.; CLAYTON, PETER T.; HOULDEN, HENRY

PDXK mutations cause polyneuropathy responsive to PLP supplementation

ANNALS OF NEUROLOGY; Lugar: New York; Año: 2019

SALPIETRO, VINCENZO; MALINTAN, NANCY T.; LLANO-RIVAS, ISABEL; SPAETH, CHRISTINE G.; EFTHYMIOU, STEPHANIE; STRIANO, PASQUALE; VANDROVCOVA, JANA; CUTRUPI, MARIA C.; CHIMENZ, ROBERTO; DAVID, EMANUELE; DI ROSA, GABRIELLA; MARCE-GRAU, ANNA; RASPALL-CHAURE, MIQUEL; MARTIN-HERNANDEZ, ELENA; ZARA, FEDERICO; MINETTI, CARLO; BELLO, OSCAR D.; DE ZORZI, RITA; FORTUNA, SARA; DAUBER, ANDREW; ALKHAWAJA, MARIAM; SULTAN, TIPU; MANKAD, KSHITIJ; VITOBELLO, ANTONIO; THOMAS, QUENTIN; MAU-THEM, FREDERIC TRAN; FAIVRE, LAURENCE; MARTINEZ-AZORIN, FRANCISCO; PRADA, CARLOS E.; MACAYA, ALFONS; KULLMANN, DIMITRI M.; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.; HOULDEN, HENRY

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

AMERICAN JOURNAL OF HUMAN GENETICS; Lugar: United States; Año: 2019

SALPIETRO VINCENZO; DIXON CHRISTINE; HUI GUO; BELLO OSCAR (PRIMER AUTORIA COMPARTIDA)

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

NATURE COMMUNICATIONS; Lugar: London; Año: 2019

SALPIETRO, VINCENZO; EFTHYMIOU, STEPHANIE; MANOLE, ANDREEA; MAURYA, BHAWANA; WIETHOFF, SARAH; ASHOKKUMAR, BALASUBRAMANIEM; CUTRUPI, MARIA CONCETTA; DIPASQUALE, VALERIA; MANTI, SARA; BOTIA, JUAN A.; RYTEN, MINA; VANDROVCOVA, JANA; BELLO, OSCAR D.; BETTENCOURT, CONCEICAO; MANKAD, KSHITIJ; MUKHERJEE, ASHIM; MUTSUDDI, MOUSUMI; HOULDEN, HENRY

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

HUMAN MUTATION; Lugar: New York; Año: 2018 vol. 39 p. 187 - 192

BELLO, OSCAR D.; JOUANNOT, OUARDANE; CHAUDHURI, ARUNIMA; STROEVA, EKATERINA; COLEMAN, JEFF; VOLYNSKI, KIRILL E.; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.

Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2018 vol. 115 p. 7624 - 7631

GRUGET, CLÉMENCE; COLEMAN, JEFF; BELLO, OSCAR; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg 2+ and Ca 2+

FEBS LETTERS; Año: 2018

BELLO, OSCAR D.; JOUANNOT, OUARDANE; CHAUDHURI, ARUNIMA; STROEVA, EKATERINA; COLEMAN, JEFF; VOLYNSKI, KIRILL E.; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.

Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2018 vol. 115 p. 7624 - 7631

GRUGET, CLÉMENCE; COLEMAN, JEFF; BELLO, OSCAR; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg 2+ and Ca 2+

FEBS LETTERS; Año: 2018

SALPIETRO, VINCENZO; EFTHYMIOU, STEPHANIE; MANOLE, ANDREEA; MAURYA, BHAWANA; WIETHOFF, SARAH; ASHOKKUMAR, BALASUBRAMANIEM; CUTRUPI, MARIA CONCETTA; DIPASQUALE, VALERIA; MANTI, SARA; BOTIA, JUAN A.; RYTEN, MINA; VANDROVCOVA, JANA; BELLO, OSCAR D.; BETTENCOURT, CONCEICAO; MANKAD, KSHITIJ; MUKHERJEE, ASHIM; MUTSUDDI, MOUSUMI; HOULDEN, HENRY

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

HUMAN MUTATION; Lugar: New York; Año: 2018 vol. 39 p. 187 - 192

SALPIETRO, VINCENZO; EFTHYMIOU, STEPHANIE; MANOLE, ANDREEA; MAURYA, BHAWANA; WIETHOFF, SARAH; ASHOKKUMAR, BALASUBRAMANIEM; CUTRUPI, MARIA CONCETTA; DIPASQUALE, VALERIA; MANTI, SARA; BOTIA, JUAN A.; RYTEN, MINA; VANDROVCOVA, JANA; BELLO, OSCAR D.; BETTENCOURT, CONCEICAO; MANKAD, KSHITIJ; MUKHERJEE, ASHIM; MUTSUDDI, MOUSUMI; HOULDEN, HENRY

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

HUMAN MUTATION; Lugar: New York; Año: 2018 vol. 39 p. 187 - 192

GRUGET, CLÉMENCE; COLEMAN, JEFF; BELLO, OSCAR; KRISHNAKUMAR, SHYAM S.; PEREZ, ERIC; ROTHMAN, JAMES E.; PINCET, FREDERIC; DONALDSON, STEPHEN H.

Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg 2+ and Ca 2+

FEBS LETTERS; Año: 2018

VIVEKANANDA, UMESH; NOVAK, PAVEL; BELLO, OSCAR D.; KORCHEV, YURI E.; KRISHNAKUMAR, SHYAM S.; VOLYNSKI, KIRILL E.; KULLMANN, DIMITRI M.

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2017 vol. 114 p. 2395 - 2400

WU, ZHENYONG; BELLO, OSCAR D; THIYAGARAJAN, SATHISH; AUCLAIR, SARAH MARIE; VENNEKATE, WENSI; KRISHNAKUMAR, SHYAM S; O'SHAUGHNESSY, BEN; KARATEKIN, ERDEM

Dilation of fusion pores by crowding of SNARE proteins

eLife; Lugar: London; Año: 2017 vol. 6

CHELBAN, VIORICA; PATEL, NISHA; VANDROVCOVA, JANA; ZANETTI, M. NATALIA; LYNCH, DAVID S.; RYTEN, MINA; BOTÍA, JUAN A.; BELLO, OSCAR; TRIBOLLET, ELOISE; EFTHYMIOU, STEPHANIE; DAVAGNANAM, INDRAN; BASHIRI, FAHAD A.; WOOD, NICHOLAS W.; ROTHMAN, JAMES E.; ALKURAYA, FOWZAN S.; HOULDEN, HENRY

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

AMERICAN JOURNAL OF HUMAN GENETICS; Año: 2017 vol. 100 p. 969 - 977

SALPIETRO, VINCENZO; LIN, WEICHUN; DELLE VEDOVE, ANDREA; STORBECK, MARKUS; LIU, YUN; EFTHYMIOU, STEPHANIE; MANOLE, ANDREEA; WIETHOFF, SARAH; YE, QIAOHONG; SAGGAR, ANAND; MCELREAVEY, KENNETH; KRISHNAKUMAR, SHYAM S.; PITT, MATTHEW; BELLO, OSCAR D.; ROTHMAN, JAMES E.; BASEL-VANAGAITE, LINA; HUBSHMAN, MONIKA WEISZ; AHARONI, SHARON; MANZUR, ADNAN Y.; WIRTH, BRUNHILDE; HOULDEN, HENRY

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

ANNALS OF NEUROLOGY; Lugar: New York; Año: 2017 vol. 81 p. 597 - 603

WU, ZHENYONG; BELLO, OSCAR D; THIYAGARAJAN, SATHISH; AUCLAIR, SARAH MARIE; VENNEKATE, WENSI; KRISHNAKUMAR, SHYAM S; O'SHAUGHNESSY, BEN; KARATEKIN, ERDEM

Dilation of fusion pores by crowding of SNARE proteins

eLife; Lugar: London; Año: 2017 vol. 6

SALPIETRO, VINCENZO; LIN, WEICHUN; DELLE VEDOVE, ANDREA; STORBECK, MARKUS; LIU, YUN; EFTHYMIOU, STEPHANIE; MANOLE, ANDREEA; WIETHOFF, SARAH; YE, QIAOHONG; SAGGAR, ANAND; MCELREAVEY, KENNETH; KRISHNAKUMAR, SHYAM S.; PITT, MATTHEW; BELLO, OSCAR D.; ROTHMAN, JAMES E.; BASEL-VANAGAITE, LINA; HUBSHMAN, MONIKA WEISZ; AHARONI, SHARON; MANZUR, ADNAN Y.; WIRTH, BRUNHILDE; HOULDEN, HENRY

Homozygous mutations in VAMP 1 cause a presynaptic congenital myasthenic syndrome

ANNALS OF NEUROLOGY; Lugar: New York; Año: 2017 vol. 81 p. 597 - 603

WANG, JING; LI, FENG; BELLO, OSCAR D; SINDELAR, CHARLES VAUGHN; PINCET, FRÉDÉRIC; KRISHNAKUMAR, SHYAM S; ROTHMAN, JAMES E

Circular oligomerization is an intrinsic property of synaptotagmin

eLife; Año: 2017 vol. 6

VIVEKANANDA, UMESH; NOVAK, PAVEL; BELLO, OSCAR D.; KORCHEV, YURI E.; KRISHNAKUMAR, SHYAM S.; VOLYNSKI, KIRILL E.; KULLMANN, DIMITRI M.

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA; Año: 2017 vol. 114 p. 2395 - 2400

WANG, JING; LI, FENG; BELLO, OSCAR D; SINDELAR, CHARLES VAUGHN; PINCET, FRÉDÉRIC; KRISHNAKUMAR, SHYAM S; ROTHMAN, JAMES E

Circular oligomerization is an intrinsic property of synaptotagmin

eLife; Año: 2017 vol. 6

CHELBAN, VIORICA; PATEL, NISHA; VANDROVCOVA, JANA; ZANETTI, M. NATALIA; LYNCH, DAVID S.; RYTEN, MINA; BOTÍA, JUAN A.; BELLO, OSCAR; TRIBOLLET, ELOISE; EFTHYMIOU, STEPHANIE; DAVAGNANAM, INDRAN; BASHIRI, FAHAD A.; WOOD, NICHOLAS W.; ROTHMAN, JAMES E.; ALKURAYA, FOWZAN S.; HOULDEN, HENRY

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

AMERICAN JOURNAL OF HUMAN GENETICS; Año: 2017 vol. 100 p. 969 - 977

MANOLE, ANDREEA; JAUNMUKTANE, ZANE; HARGREAVES, IAIN; LUDTMANN, MARTHE H R; SALPIETRO, VINCENZO; BELLO, OSCAR D; POPE, SIMON; PANDRAUD, AMELIE; HORGA, ALEJANDRO; SCALCO, RENATA S; LI, ABI; ASHOKKUMAR, BALASUBRAMANIEM; LOURENÇO, CHARLES M; HEALES, SIMON; HORVATH, RITA; CHINNERY, PATRICK F; TORO, CAMILO; SINGLETON, ANDREW B; JACQUES, THOMAS S; ABRAMOV, ANDREY Y; MUNTONI, FRANCESCO; HANNA, MICHAEL G; REILLY, MARY M; REVESZ, TAMAS; KULLMANN, DIMITRI M; JEPSON, JAMES E C; HOULDEN, HENRY

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

BRAIN; Año: 2017 vol. 140 p. 2820 - 2837

MANOLE, ANDREEA; JAUNMUKTANE, ZANE; HARGREAVES, IAIN; LUDTMANN, MARTHE H R; SALPIETRO, VINCENZO; BELLO, OSCAR D; POPE, SIMON; PANDRAUD, AMELIE; HORGA, ALEJANDRO; SCALCO, RENATA S; LI, ABI; ASHOKKUMAR, BALASUBRAMANIEM; LOURENÇO, CHARLES M; HEALES, SIMON; HORVATH, RITA; CHINNERY, PATRICK F; TORO, CAMILO; SINGLETON, ANDREW B; JACQUES, THOMAS S; ABRAMOV, ANDREY Y; MUNTONI, FRANCESCO; HANNA, MICHAEL G; REILLY, MARY M; REVESZ, TAMAS; KULLMANN, DIMITRI M; JEPSON, JAMES E C; HOULDEN, HENRY

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

BRAIN; Año: 2017 vol. 140 p. 2820 - 2837

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Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

BRAIN; Año: 2017 vol. 140 p. 2820 - 2837

WU, ZHENYONG; BELLO, OSCAR D; THIYAGARAJAN, SATHISH; AUCLAIR, SARAH MARIE; VENNEKATE, WENSI; KRISHNAKUMAR, SHYAM S; O'SHAUGHNESSY, BEN; KARATEKIN, ERDEM

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eLife; Lugar: London; Año: 2017 vol. 6

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Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization

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WANG, JING; LI, FENG; BELLO, OSCAR D; SINDELAR, CHARLES VAUGHN; PINCET, FRÉDÉRIC; KRISHNAKUMAR, SHYAM S; ROTHMAN, JAMES E

Circular oligomerization is an intrinsic property of synaptotagmin

eLife; Año: 2017 vol. 6

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Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

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BELLO, OSCAR D.; AUCLAIR, SARAH M.; ROTHMAN, JAMES E.; KRISHNAKUMAR, SHYAM S.

Using ApoE Nanolipoprotein Particles To Analyze SNARE-Induced Fusion Pores

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eLife; Año: 2016 vol. 5

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Nanodisc-cell fusion: control of fusion pore nucleation and lifetimes by SNARE protein transmembrane domains

Scientific Reports; Año: 2016 vol. 6

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eLife; Año: 2016 vol. 5

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Nanodisc-cell fusion: control of fusion pore nucleation and lifetimes by SNARE protein transmembrane domains

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eLife; Año: 2016 vol. 5

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Using ApoE Nanolipoprotein Particles To Analyze SNARE-Induced Fusion Pores

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Cortical Granule Exocytosis Is Mediated by Alpha-SNAP and N-Ethilmaleimide Sensitive Factor in Mouse Oocytes

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Cortical Granule Exocytosis Is Mediated by Alpha-SNAP and N-Ethilmaleimide Sensitive Factor in Mouse Oocytes

PLOS ONE; Año: 2015 vol. 10

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