DSpace Repository

Browsing Enfermedades Neuromusculares by Title

Browsing Enfermedades Neuromusculares by Title

Sort by: Order: Results:

  • An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort 
    Leonhard, Sonja E.; van der Eijk, Annemiek A.; Andersen, Henning; Antonini, Giovanni; Arends, Samuel; Attarian, Shahram; Barroso, Fabio Adrián; Bateman, Kathleen J.; Batstra, Manou R.; Benedetti, Luana; Van den Berg, Bianca; van den Bergh, Peter; Bürmann, Jan; Busby, Mark; Casasnovas, Carlos; Cornblath, David R.; Davidson, Amy; Doets, Alex Y.; A van Doorn, Pieter; Dornonville de la Cour, Charlotte (Lippincott Williams & Wilkins, 2022-08-18)
    Background and objectives: Infections play a key role in the development of Guillain-Barré syndrome (GBS) and have been associated with specific clinical features and disease severity. The clinical variation of GBS across ...
  • Association between neurological syndromes and Arbovirus in Buenos Aires - Relationship between Guillain Barre Syndrome, Encephalitis and Myelitis with Zika, Dengue and Chikungunya (P4.6-024) 
    Kohler, Alejandro Alfredo; Farez, Mauricio Franco; Heck, Evelyn Sabrina; Barroso, Fabio Adrián; Bruno, Verónica (Lippincott Williams & Wilkins, 2019-05-08)
    Objective: Analyze the association between Guillain Barre Syndrome (GBS), Infectious Encephalitis (IE) and Transverse Myelitis (TM) with secondary infections to arboviruses in hospitalized patients of Buenos Aires ...
  • Bilateral facial palsy with paresthesias, variant of Guillain-Barré syndrome following COVID-19 vaccine: A case series of 9 patients 
    Castiglione, Juan Ignacio; Crespo, Marcos José; Lecchini, L.; Silveira, F.O.; Luis, M.B.; Cotti, N.; Simison, C.J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, R.N.; Azcona, C.L.; Sosa, P.S.; Maldonado, E.; Barroso, Fabio Adrián (Pergamon Press, 2022-07)
    Several cases of Guillain-Barré Syndrome (GBS) associated with COVID-19 vaccination have been reported, including the rare subtype known as Bilateral Facial Palsy with paresthesias (BFP). To date, it is not known whether ...
  • Blood Pressure and Orthostatic Hypotension as Measures of Autonomic Dysfunction in Patients From the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    González-Duarte, Alejandra; Barroso, Fabio Adrián; Mundayat, Rajiv; Shapiro, Bryan (Elsevier, 2019-10-23)
    Introduction Autonomic dysfunction, an early symptom of transthyretin amyloidosis (ATTR amyloidosis), requires investigations not readily available in many clinics. Although monitoring of orthostatic hypotension (OH) will ...
  • Characteristics of patients with autonomic dysfunction in the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Barroso, Fabio Adrián; Coelho, Teresa; Dispenzieri, Angela; Conceição, Isabel; Waddington Cruz, Marcia; Wixner, Jonas; Maurer, Mathew S.; Rapezzi, Claudio; Planté-Bordeneuve, Violaine; Kristen, Arnt V.; González-Duarte, Alejandra; Chapman, Doug; Stewart, Michelle; Amass, Leslie; THAOS investigators (Taylor & Francis, 2022-09)
    Background: Autonomic dysfunction is common in transthyretin amyloidosis (ATTR amyloidosis), but its frequency, characteristics, and quality-of-life (QoL) impact are not well understood. Methods: The Transthyretin ...
  • Characteristics of Patients with Hereditary Transthyretin Amyloidosis-Polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an Open-label Phase 3 Study of Eplontersen 
    Coelho, Teresa; Waddington Cruz, Marcia; Chao, Chi-Chao; Parman, Yeşim; Wixner, Jonas; Weiler, Markus; Barroso, Fabio Adrián; Dasgupta, Noel R.; Jung, Shiangtung W.; Schneider, Eugene; Viney, Nicholas J.; Dyck, P. James B.; Ando, Yukio; Gillmore, Julian D.; Khella, Sami; Gertz, Morie; Obici, Laura; Berk, John L. (Springer, 2022-12-16)
    Introduction: Hereditary transthyretin (ATTRv) amyloidosis is a rare, severe, progressive, debilitating, and ultimately fatal disease caused by systemic deposition of transthyretin (TTR) amyloid fibrils. ATTRv amyloidosis ...
  • Characteristics of Patients with Late- vs. Early-Onset Val30Met Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey (THAOS) 
    Waddington Cruz, Marcia; Wixner, Jonas; Amass, Leslie; Kiszko, Jan; Chapman, Doug; Ando, Yukio; THAOS investigators (Springer, 2021-05-22)
    Introduction: Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene. The most common mutation, Val30Met, can manifest as an early- ...
  • Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update 
    Dispenzieri, Angela; Coelho, Teresa; Conceição, Isabel; Waddington Cruz, Marcia; Wixner, Jonas; Kristen, Arnt V.; Rapezzi, Claudio; Planté-Bordeneuve, Violaine; Gonzalez-Moreno, Juan; Maurer, Mathew S.; Grogan, Martha; Chapman, Doug; Amass, Leslie; Barroso, Fabio Adrián; THAOS investigators (BioMed Central, 2022-06-18)
    Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral ...
  • Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey 
    Gonzalez-Moreno, Juan; Dispenzieri, Angela; Grogan, Martha; Coelho, Teresa; Tournev, Ivailo; Waddington-Cruz, Márcia; Wixner, Jonas; Diemberger, Igor; Garcia-Pavia, Pablo; Chapman, Doug; Gupta, Pritam; Glass, Oliver; Amass, Leslie; THAOS investigators; Barroso, Fabio Adrián (Springer, 2023-12-20)
    Introduction: Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods: This study describes the mixed phenotype ...
  • CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome 
    Al-Hakem, Helle; Doets, Alex Y.; Stino, Amro Maher; Zivkovic, Sasha A.; Andersen, Henning; Willison, Hugh J.; Cornblath, David R.; Gorson, Kenneth C.; Islam, Zhahirul; Mohammad, Quazi Deen; Sindrup, Soren H.; Kusunoki, Susumu; Davidson, Amy; Casasnovas, Carlos; Bateman, Kathleen J.; Miller, James A. L.; van den Berg, Bianca; Verboon, Christine; Roodbol, Joyce; Barroso, Fabio Adrián (Lippincott Williams & Wilkins, 2023-04-19)
    Background and Objectives To investigate CSF findings in relation to clinical and electrodiagnostic subtypes, severity, and outcome of Guillain-Barré syndrome (GBS) based on 1,500 patients in the International GBS Outcome ...
  • Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages 
    Freeman, Roy; González-Duarte, Alejandra; Barroso, Fabio Adrián; Campagnolo, Marta; Rajan, Sharika; Garcia, Jennifer; Young Kim, Jee; Wang, Ningshan; Orellana, Lucas Gabriel; Gibbons, Christopher (Wiley Periodicals, 2022-09)
    Objective: To determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient-reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv). Methods: In a ...
  • Early data on long-term efficacy and safety of inotersen in patients with hereditary transthyretin amyloidosis: a 2-year update from the open-label extension of the NEURO-TTR trial 
    Brannagan, Thomas H.; Wang, Annabel K.; Coelho, Teresa; Waddington Cruz, Marcia; Polydefkis, Michael J.; Dyck, Peter J.; Plante-Bordeneuve, Violaine; Berk, John L.; Barroso, Fabio Adrián; Merlini, Giampaolo; Conceição, Isabel; Hughes, Steven G.; Kwoh, Jesse; Jung, Shiangtung W.; Guthrie, Spencer; Pollock, Michael; Benson, Merrill D.; Gertz, Morie; NEURO-TTR open-label extension investigators (Wiley, 2020-08)
    Background and purpose: Hereditary transthyretin (hATTR) amyloidosis causes progressive polyneuropathy resulting from transthyretin (TTR) amyloid deposition throughout the body, including the peripheral nerves. The efficacy ...
  • Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values 
    Arends, Samuel; Drenthen, Judith; van den Bergh, Peter; Franssen, Hessel; Hadden, Robert D.M.; Islam, Badrul; Kuwabara, Satoshi; Reisin, Ricardo C.; Shahrizaila, Nortina; Amino, Hiroshi; Antonini, Giovanni; Attarian, Shahram; Balducci, Claudia; Barroso, Fabio Adrián; IGOS consortium (Elsevier, 2022-01-13)
    Objective: To describe the heterogeneity of electrodiagnostic (EDx) studies in Guillain-Barré syndrome (GBS) patients collected as part of the International GBS Outcome Study (IGOS). Methods: Prospectively collected ...
  • Eplontersen for Hereditary Transthyretin Amyloidosis With Polyneuropathy 
    Coelho, Teresa; Marques, Wilson; Dasgupta, Noel R.; Chao, Chi-Chao; Parman, Yesim; Cavalcante França Jr, Marcondes; Guo, Yuh-Cherng; Wixner, Jonas; Ro, Long-Sun; Calandra, Cristian R.; Kowacs, Pedro A.; Berk, John L.; Obici, Laura; Barroso, Fabio Adrián; Weiler, Markus; Conceição, Isabel; Jung, Shiangtung W.; Buchele, Gustavo; Brambatti, Michela; NEURO-TTRansform Investigators (American Medical Association, 2023-09-28)
    Importance: Transthyretin gene silencing is an emerging treatment strategy for hereditary transthyretin (ATTRv) amyloidosis. Objective: To evaluate eplontersen, an investigational ligand-conjugated antisense oligonucleotide, ...
  • Familial Amyloid Polyneuropathy: Impact of Biopsies and Mutations on Diagnostic Considerations (P3.4-033) 
    Gibbons, Christopher; González-Duarte, Alejandra; Barroso, Fabio Adrián; Campagnolo, Marta; Rajan, Sharika; Freeman, Roy (AAN, 2019-05-07)
    Objective: To characterize the symptoms, signs and skin biopsy neuropathological findings in a cohort of individuals with TTR Mutations. Background: Familial amyloid polyneuropathy is due to one of many mutations in the ...
  • Feeding difficulties in children and adolescents with spinal muscular atrophy type 2 
    Wadman, Renske I.; de Amicis, Ramona; Battezzati, Alberto; Bertoli, Simona; Davis, Tracey; Main, Marion; Manzur, Adnan; Mastella, Chiara; Munot, Pinki; Imbrigiotta, Nadia; Schottlaender, Lucía V.; Sarkozy, Anna; Trucco, Federica; Baranello, Giovanni; Scoto, Mariacristina; Muntoni, Francesco; Brusa, Chiara (Pergamon Press, 2020-12-19)
    Disease course of feeding difficulties in spinal muscular atrophy type 2 is not well documented. Disease-modifying therapies rapidly change the trajectory of motor function and survival in spinal muscular atrophy, but ...
  • Guillain-Barré Syndrome and COVID-19 Vaccine: A Multicenter Retrospective Study of 46 Cases 
    Castiglione, Juan Ignacio; Crespo, José Manuel; Bendersky, Mariana; Silveira, Facundo Oscar; Lecchini, Lucila; Luis, María Belén; Caiza Zambrano, Francisco; Cotti, Norberto; Simison, Conrado J.; Aguirre, Florencia; Piedrabuena, María Agustina; Alonso, Ricardo Nicolás; Azcona, Carolina Laura; Sosa, Pablo Sebastian; Maldonado, Evangelina; Varela, Francisco José; Bettini, Mariela; Rey, Roberto D.; León Cejas, Luciana; Barroso, Fabio Adrián (Lippincott Williams & Wilkins, 2023-09-01)
    In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain-Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be ...
  • HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes 
    Berardo, Andrés; Lornage, Xavière; Johari, Mridul; Evangelista, Teresinha; Cejas, Claudia Patricia; Barroso, Fabio Adrián; Dubrovsky, Alberto; Bui, Mai Thao; Brochier, Guy; Saccoliti, María; Bohm, Johann; Udd, Bjarne; Laporte, Jocelyn; Romero, Norma Beatriz; Taratuto, Ana Lía (Springer, 2019-07-02)
    Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying ...
  • Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome: an international observational study 
    Verboon, Christine; Harbo, Thomas; Cornblath, David R.; Hughes, Richard A. C.; van Doorn, Pieter A.; Lunn, Michael P.; Gorson, Kenneth C.; Barroso, Fabio Adrián; Kuwabara, Satoshi; Galassi, Giuliana; Lehmann, Helmar C.; Kusunoki, Susumu; Reisin, Ricardo C.; Binda, Davide; Cavaletti, Guido; Jacobs, Bart C.; IGOS consortium; GOS consortium (BMJ Publishing Group, 2021-06-08)
    Objective: To compare the disease course in patients with mild Guillain-Barré syndrome (GBS) who were treated with intravenous immunoglobulin (IVIg) or supportive care only. Methods: We selected patients from the ...
  • Long-Term Efficacy and Safety of Inotersen for Hereditary Transthyretin Amyloidosis: NEURO-TTR Open-Label Extension 2-Year Update (S27.008) 
    Brannagan, Thomas H.; Waddington Cruz, Marcia; Wang, Annabel K.; Polydefkis, Michael J.; Dyck, Peter J.; Khella, Sami; Plante-Bordeneuve, Violaine; Berk, John L.; Barroso, Fabio Adrián; Merlini, Giampaolo; Conceição, Isabel; Hughes, Steven G.; Kwoh, Jesse; Jung, Shiangtung W.; Guthrie, Spencer; Pollock, Michael; Benson, Merrill D.; Gertz, Morie; Coelho, Teresa (Lippincott Williams & Wilkins, 2019-03-09)
    Objective: To provide an update on the long-term efficacy and safety of inotersen, an antisense oligonucleotide inhibitor of transthyretin protein production, in patients with hereditary transthyretin amyloidosis (hATTR) ...

Search DSpace


Browse

My Account