نتائج البحث - "Jacqueline Montes"

1

Revised upper limb module in type II and III spinal muscular atrophy: 24-month changes

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test

2

A post pandemic roadmap toward remote assessment for neuromuscular disorders: limitations and opportunities

المؤلفون: Jacqueline Montes, Katy J. Eichinger, Amy Pasternak, Cara Yochai, Kristin J. Krosschell

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: SARS-CoV-2, COVID-19, Remote assessment, Neuromuscular Diseases, General Medicine, Telemedicine, Outcome measure, Telehealth, Clinical trials, Clinical outcome assessments (COA), Medicine, Humans, Pharmacology (medical), Position Statement, Pandemics, Genetics (clinical), Neuromuscular disorders

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2e0d3b6631be86b57c9402c3646e467Test
http://europepmc.org/articles/PMC8726521Test

3

Longitudinal natural history of type I spinal muscular atrophy: a critical review

المؤلفون: Stephen J. Kolb, Jacqueline Montes, Marika Pane, Giorgia Coratti, Simona Lucibello, Marco Perulli, Eugenio Mercuri, Roberto De Sanctis, Richard S. Finkel, Darryl C. De Vivo, Basil T. Darras, Maria Carmela Pera

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Natural history, lcsh:Medicine, Review, Neonatal onset, Disease, Spinal Muscular Atrophies of Childhood, CHOP, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, lcsh:R, Infant, Newborn, Infant, General Medicine, Spinal muscular atrophy, SMA, medicine.disease, Clinical trial, Settore MED/26 - NEUROLOGIA, Phenotype, 030104 developmental biology, Italy, Cohort, business, CHOP INTEND, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db75db350724f0c00b7760581e5165a7Test
http://link.springer.com/article/10.1186/s13023-020-01356-1Test

4

A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy

المؤلفون: Sonia Messina, Jacqueline Montes, Matthew Civitello, Marika Pane, Anna Lia Frongia, Francesco Muntoni, Giorgia Coratti, Maria Carmela Pera, Eugenio Mercuri, Amy Pasternak, Anna Mayhew, Laura Antonaci, Richard S. Finkel

المصدر: Neuromuscular Disorders. 29:940-950

مصطلحات موضوعية: Parents, Quality of life, 0301 basic medicine, Gerontology, Activities of daily living, Care burden, Personalized medicine, Care burden, Muscular Atrophy, Spinal, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Cost of Illness, Age groups, Activities of Daily Living, medicine, Humans, Health related quality of life, Precision Medicine, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Activity of daily living, Caregiver burden, Spinal muscular atrophy, SMA, medicine.disease, Personalized medicine, Clinical trial, Clinical Practice, 030104 developmental biology, Caregivers, Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50ed37445e9bc1b6b7f7e0b74cea935cTest
https://doi.org/10.1016/j.nmd.2019.10.001Test

5

Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test

6

Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Hammersmith functional motor scale expanded, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Baseline values, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Age Factors, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, Neuromuscular disorders, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Diabetes Mellitus, Type 2, Relative risk, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3f81c5c04817c81c6e3c85c3aaa64Test
http://hdl.handle.net/11570/3189921Test

7

Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA. Rome, 13 July 2019

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a631e903c9e3ed2f54be943d6ad2b113Test
http://hdl.handle.net/10807/182745Test

8

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

المؤلفون: Eugenio Mercuri, Richard S. Finkel, Francesco Muntoni, Brunhilde Wirth, Jacqueline Montes, Marion Main, Elena S. Mazzone, Michael Vitale, Brian Snyder, Susana Quijano-Roy, Enrico Bertini, Rebecca Hurst Davis, Oscar H. Meyer, Anita K. Simonds, Mary K. Schroth, Robert J. Graham, Janbernd Kirschner, Susan T. Iannaccone, Thomas O. Crawford, Simon Woods, Ying Qian, Thomas Sejersen, Francesco Danilo Tiziano, Eduardo Tizzano, Haluk Topaloglu, Kathy Swoboda, Nigel Laing, Saito Kayoko, Thomas Prior, Wendy K. Chung, Shou-Mei Wu, Elena Mazzone, Caron Coleman, Richard Gee, Allan Glanzman, Anna-Karin Kroksmark, Kristin Krosschell, Leslie Nelson, Kristy Rose, Agnieszka Stępień, Carole Vuillerot, Jean Dubousset, David Farrington, Jack Flynn, Matthew Halanski, Carol Hasler, Lotfi Miladi, Christopher Reilly, Benjamin Roye, Paul Sponseller, Muharrem Yazici, Rebecca Hurst, Stacey Tarrant, Salesa Barja, Simona Bertoli, Thomas Crawford, Kevin Foust, Barbara Kyle, Lance Rodan, Helen Roper, Erin Seffrood, Kathryn Swoboda, Agnieszka Szlagatys-Sidorkiewicz

المصدر: Neuromuscular Disorders. 28:103-115

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::060448e3bce86a13394ec584cb841ce1Test
https://doi.org/10.1016/j.nmd.2017.11.005Test

9

Workshop report

المصدر: Neuromuscular Disorders. 27:964-969

مصطلحات موضوعية: 0301 basic medicine, 03 medical and health sciences, medicine.medical_specialty, Neurology, business.industry, Family medicine, Pediatrics, Perinatology and Child Health, medicine, MEDLINE, Neurology (clinical), 030105 genetics & heredity, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e6b4c5c6da0af80ee38fdd0847df9f4Test
https://doi.org/10.1016/j.nmd.2017.07.005Test

10

Developmental milestones in type I spinal muscular atrophy

المؤلفون: Roberto De Sanctis, Sally Dunaway Young, Rachel Salazar, Jacqueline Montes, Danilo Tiziano, Leonardo Lapenta, Francesco Muntoni, Laura Antonaci, Allan M. Glanzman, Elena S. Mazzone, Eugenio Mercuri, Basil T. Darras, Maria Carmela Pera, Darryl C. De Vivo, Amy Pasternak, Richard S. Finkel, Giorgia Coratti, Marika Pane, Janet Quigley

المصدر: Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Hammersmith Infant Neurological Examination, Motor milestones, Outcome measures, Spinal muscular atrophy, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Genetics (clinical), Clinical Neurology, Neurological examination, Spinal Muscular Atrophies of Childhood, Sitting, Settore MED/03 - GENETICA MEDICA, Pediatrics, Article, 03 medical and health sciences, Child Development, 0302 clinical medicine, medicine, Milestone (project management), Humans, Genetics(clinical), Longitudinal Studies, Pediatrics, Perinatology, and Child Health, Retrospective Studies, Neurologic Examination, Type I Spinal Muscular Atrophy, medicine.diagnostic_test, business.industry, Infant, Perinatology and Child Health, medicine.disease, SMA, Natural history, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Motor Skills, Child, Preschool, Developmental Milestone, Disease Progression, Physical therapy, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e7714d095011ab42d85620d4e5d2d78Test

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