作者：Jes煤s Villar (1) (2) (3)
Nuria E Cabrera-Ben铆tez (1) (2)
Francisco Valladares (1) (4)
Sonia Garc铆a-Hern谩ndez (4)
脕ngela Ramos-Nuez (1) (2)
Jos茅 Lu铆s Mart铆n-Barrasa (2)
Mercedes Muros (1) (5)
Robert M Kacmarek (6) (7)
Arthur S Slutsky (3) (8)

1. CIBER de Enfermedades Respiratorias ; Instituto de Salud Carlos III ; Monforte de Lemos 3-5 ; 28029 ; Madrid ; Spain
2. Multidisciplinary Organ Dysfunction Evaluation Research Network ; Research Unit ; Hospital Universitario Dr. Negrin ; Barranco de la Ballena ; s/n ; Las Palmas de Gran Canaria ; 35010 ; Spain
3. Keenan Research Center for Biomedical Science ; St. Michael鈥檚 Hospital ; 30 Bond Street ; Toronto ; ON ; M5B 1W8 ; Canada
4. Department of Anatomy ; Pathology and Histology ; University of La Laguna ; Campus de CC. de la Salud ; 38071 ; Tenerife ; Spain
5. Department of Clinical Biochemistry ; Hospital Universitario NS de Candelaria ; Ctra. Gral. del Rosario ; 145 ; Santa Cruz de Tenerife ; 38010 ; Spain
6. Department of Respiratory Care ; Massachusetts General Hospital ; 55 Fruit Street ; Boston ; MA ; 02114 ; USA
7. Department of Anesthesia ; Harvard University ; 75 Francis Street ; Boston ; MA ; 02115 ; USA
8. Interdepartmental Division of Critical Care Medicine ; University of Toronto ; 585 University Avenue ; Toronto ; ON ; M5G 2N2 ; Canada

刊名：Critical Care

出版年：2015

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joan A O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; Strasbourg ; Cedex ; 67098 ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; Illkirch ; 67404 ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

刊名：Journal of Neurodevelopmental Disorders

出版年：2015

作者：Deborah A Hall (1)
Rachael C Birch (2)
Mathieu Anheim (3) (4) (5)
Aia E J酶nch (6)
Elizabeth Pintado (7)
Joanne O鈥橩eefe (8)
Julian N Trollor (13) (2)
Glenn T Stebbins (1)
Randi J Hagerman (9)
Stanley Fahn (10)
Elizabeth Berry-Kravis (1) (11)
Maureen A Leehey (12)

1. Department of Neurological Sciences ; Rush University ; Chicago ; IL ; USA
2. Department of Developmental Disability Neuropsychiatry ; School of Psychiatry ; University of New South Wales ; Sydney ; Australia
3. D茅partement de Neurologie ; H么pitaux Universitaires de Strasbourg ; H么pital de Hautepierre ; 67098 ; Strasbourg ; Cedex ; France
4. Institut de G茅n茅tique et de Biologie Mol茅culaire et Cellulaire (IGBMC) ; INSERM-U964/CNRS-UMR7104/Universit茅 de Strasbourg ; 67404 ; Illkirch ; France
5. F茅d茅ration de M茅decine Translationnelle de Strasbourg (FMTS) ; Universit茅 de Strasbourg ; Strasbourg ; France
6. Department of clinical Genetics ; Kennedy Center ; Rigshospitalet ; Copenhagen University Hospital ; Copenhagen ; Denmark
7. Department of Medical Biochemistry and Molecular Biology ; University of Seville ; Sevilla ; Spain
8. Department of Anatomy & Cell Biology ; Rush University ; Chicago ; IL ; USA
13. Centre for Healthy Brain Ageing ; University of New South Wales ; Sydney ; Australia
9. Department of Pediatrics & M.I.N.D. Institute ; University of California at Davis Medical Center ; Sacramento ; CA ; USA
10. Department of Neurology ; Columbia University ; New York ; NY ; USA
11. Departments of Pediatrics and Biochemistry ; Rush University ; Chicago ; IL ; USA
12. Department of Neurology ; University of Colorado at Denver ; Denver ; CO ; USA

关键词：FMR1 ; FXTAS ; Premutation ; Fragile X ; Tremor ; Ataxia

刊名：Journal of Neurodevelopmental Disorders

出版年：2014

作者：Patricia Sebastian-Leon (1)
Enrique Vidal (1) (2) (3)
Pablo Minguez (1) (4)
Ana Conesa (1)
Sonia Tarazona (1)
Alicia Amadoz (1)
Carmen Armero (5)
Francisco Salavert (1) (2)
Antonio Vidal-Puig (6)
David Montaner (1)
Joaqu铆n Dopazo (1) (2) (7)

1. Department of Computational Genomics ; Centro de Investigaci贸n Pr铆ncipe Felipe (CIPF) ; Avda. Autopista del Saler ; 16 ; 46012 ; Valencia ; Spain
2. BIER ; CIBER de Enfermedades Raras (CIBERER) ; Valencia ; 46012 ; Spain
3. Present Address ; Cancer Epigenetics and Biology Program (PEBC) ; Bellvitge Biomedical Research Institute (IDIBELL) ; L鈥橦ospitalet de Llobregat ; Barcelona ; Spain
4. Present Address ; Structural and Computational Biology ; European Molecular Biology Laboratory ; Heidelberg ; 69117 ; Germany
5. Department of Statistics and Operations Research ; University of Valencia ; Valencia ; 46100 ; Spain
6. Institute of Metabolic Science - Metabolic Research Laboratories and Department of Clinical Biochemistry ; University of Cambridge ; Addenbrooke鈥檚 Hospital ; Cambridge ; CB2 0QQ ; UK
7. Functional Genomics Node ; (INB) at CIPF ; Valencia ; Spain

关键词：Signaling pathways ; Probabilistic model ; Disease mechanism ; Precision medicine ; Disease mechanism ; Cancer ; Fanconi anemia ; Obesity ; Stem cells

刊名：BMC Systems Biology

出版年：2014

作者：Carolyn M Yrigollen (4)
Loreto Martorell (5)
Blythe Durbin-Johnson (6)
Montserrat Naudo (5)
Jordi Genoves (5)
Alessandra Murgia (7)
Roberta Polli (7)
Lili Zhou (8)
Deborah Barbouth (9)
Abigail Rupchock (9)
Brenda Finucane (10)
Gary J Latham (11)
Andrew Hadd (11)
Elizabeth Berry-Kravis (8)
Flora Tassone (12) (4)

4. Department of Biochemistry and Molecular Medicine ; University of California ; Davis ; School of Medicine ; 2700 Stockton Blvd. ; Suite 2102 ; Sacramento ; CA ; 95817 ; USA
5. Molecular Genetics Section ; Hospital Sant Joan de D茅u ; Barcelona ; Spain
6. Department of Public Health Sciences ; University of California ; Davis ; Davis ; CA ; USA
7. Laboratory of Molecular Genetics of Neurodevelopment ; Department of Women鈥檚 and Children鈥檚 Health ; University of Padova ; Padova ; Italy
8. Department of Pediatrics ; Neurological Sciences ; and Biochemistry ; Rush University Medical Center ; Chicago ; IL ; USA
9. Dr. John T. Macdonald Foundation ; Department of Human Genetics ; Miller School of Medicine ; University of Miami ; Miami ; FL ; USA
10. Geisinger Autism and Developmental Medicine Institute ; Lewisburg ; PA ; USA
11. Asuragen ; Inc. ; Austin ; TX ; USA
12. MIND Institute ; University of California ; Davis ; School of Medicine ; Davis ; CA ; USA

关键词：AGG interruptions ; premutation ; FMR1 ; gray/intermediate allele ; full mutation ; risk of expansion

刊名：Journal of Neurodevelopmental Disorders

出版年：2014