- 50 - 100 out of 293,283 results
- Publication Year, Title (descending)
2019
Agminated Spitzoid Naevi after Remission of Langerhans Cell Histiocytosis: First Italian Case and Literature Review
Rotunno, R., Diociaiuti, A., de Vito, R., Gaspari, S., Carnevale, C., Giancristoforo, S. & El Hachem, M., Feb 27 2019, In : Acta Dermato-Venereologica.Research output: Contribution to journal › Article
A high mucosal blocking score is associated with HIV protection
Girard, A., Rallón, N., Benito, J. M., Jospin, F., Rodriguez, C., Chanut, B., Benjelloun, F., Del Romero, J., Verrier, B., Lucht, F., Pin, J. J., Genin, C., Biasin, M., Clerici, M. & Paul, S., Mar 1 2019, In : AIDS (London, England). 33, 3, p. 411-423 13 p.Research output: Contribution to journal › Article
HIV
Antibodies
C-Type Lectins
HIV Antibodies
Lymphoid Tissue
AISF position paper on HCV in immunocompromised patients
Italian Association for the Study of the Liver (AISF), Jan 1 2019, In : Digestive and Liver Disease. 51, 1, p. 10-23 14 p.Research output: Contribution to journal › Article
Immunocompromised Host
Antiviral Agents
Infection
AISF position paper on HCV in immunocompromised patients
(AISF), I. A. F. T. S. O. T. L., Angelucci, E., Astegiano, M., Baratelli, C., Biancone, L., Bironzo, P., Brancaccio, G., Brunetto, M. R., Bruno, R., Burra, P., Cabras, M. G., Caraceni, P., Chialà, C., Clemente, M. G., Colli, A., Daniele, B., De Gasperi, E., Di Marco, V., Ditto, M. C., Fagiuoli, S. & 63 others, 2019, In : Digestive and Liver Disease. 51, 1, p. 10-23 14 p.Research output: Contribution to journal › Article
All-cause mortality and antipsychotic use among elderly persons with high baseline cardiovascular and cerebrovascular risk: a multi-center retrospective cohort study in Italy
Sultana, J., Giorgianni, F., Rea, F., Lucenteforte, E., Lombardi, N., Mugelli, A., Vannacci, A., Liperoti, R., Kirchmayer, U., Vitale, C., Chinellato, A., Roberto, G., Corrao, G., Trifirò, G., Agabiti, N., Bartolini, C., Bernabei, R., Bettiol, A., Bonassi, S., Caputi, A. P. & 11 others, 2019, In : Expert Opinion on Drug Metabolism and Toxicology. 15, 2, p. 179-188 10 p.Research output: Contribution to journal › Article
Italy
Antipsychotic Agents
Cohort Studies
Retrospective Studies
Mortality
Allergen immunotherapy for IgE-mediated food allergy: There is a measure in everything to a proper proportion of therapy
Pajno, G. B., Castagnoli, R., Muraro, A., Alvaro-Lozano, M., Akdis, C. A., Akdis, M. & Arasi, S., Jan 1 2019, In : Pediatric Allergy and Immunology.Research output: Contribution to journal › Article
Immunologic Desensitization
Food Hypersensitivity
Immunoglobulin E
Food
Therapeutics
Allergic contact dermatitis caused by clindamycin
Veraldi, S., Guanziroli, E., Ferrucci, S. & Nazzaro, G., 2019, In : Contact Dermatitis. 80, 1, p. 68-69Research output: Contribution to journal › Article
2
Citations
(Scopus)
Allosteric Modulators of HSP90 and HSP70: Dynamics Meets Function through Structure-Based Drug Design
Ferraro, M., D'Annessa, I., Moroni, E., Morra, G., Paladino, A., Rinaldi, S., Compostella, F. & Colombo, G., Oct 1 2019, In : Journal of Medicinal Chemistry. 62, 1, p. 60-87 28 p.Research output: Contribution to journal › Article
Drug Design
Adenosine Triphosphate
Multiprotein Complexes
Molecular Chaperones
Pharmaceutical Preparations
Alopecia neoplastica as a sign of visceral malignancies: a systematic review
Paolino, G., Pampena, R., Grassi, S., Mercuri, S. R., Cardone, M., Corsetti, P., Moliterni, E., Muscianese, M., Rossi, A., Frascione, P. & Longo, C., Jan 1 2019, In : Journal of the European Academy of Dermatology and Venereology.Research output: Contribution to journal › Review article
Alopecia
Neoplasms
Survival Analysis
Cicatrix
Neoplasm Metastasis
Alpha, Beta, gamma human PapillomaViruses (HPV) detection with a different sets of primers in oropharyngeal swabs, anal and cervical samples 11 Medical and Health Sciences 1117 Public Health and Health Services
Sias, C., Salichos, L., Lapa, D., Del Nonno, F., Baiocchini, A., Capobianchi, M. R. & Garbuglia, A. R., Mar 4 2019, In : Virology Journal. 16, 1, 27.Research output: Contribution to journal › Article
Open Access
Health Services
Public Health
Health
HIV
Mouth
Altered function of the glutamate–aspartate transporter GLAST, a potential therapeutic target in glioblastoma
Corbetta, C., Di Ianni, N., Bruzzone, M. G., Patanè, M., Pollo, B., Cantini, G., Cominelli, M., Zucca, I., Pisati, F., Poliani, P. L., Finocchiaro, G. & Pellegatta, S., Jan 1 2019, (Accepted/In press) In : International Journal of Cancer.Research output: Contribution to journal › Article
Glioblastoma
Glutamic Acid
Glioma
Therapeutics
Apoptosis
Aluminium in brain tissue in autism
Ivanovski, I., Ivanovski, A., Nikolić, D. & Ivanovski, P., Jan 1 2019, In : Journal of Trace Elements in Medicine and Biology. 51, p. 138-140 3 p.Research output: Contribution to journal › Letter
A multicenter randomized controlled trial on the upper limb robotic rehabilitation in subacute stroke using a set of robotic and sensor-based devices: Feasibility of the InTeReSt study
The FDG Robotic Rehabilitation Group, Aprile, I., Germanotta, M., Cruciani, A., Loreti, S., Pecchioli, C., Montesano, A., Galeri, S., Cecchi, F., Diverio, M., Falsini, C., Speranza, G., Langone, E. & Padua, L., Jan 1 2019, Biosystems and Biorobotics. Springer International Publishing AG, p. 508-512 5 p. (Biosystems and Biorobotics; vol. 21).Research output: Chapter in Book/Report/Conference proceeding › Chapter
Patient rehabilitation
Robotics
Sensors
Health
A multicenter REtrospective observational study of first-line treatment with PERtuzumab, trastuzumab and taxanes for advanced HER2 positive breast cancer patients. RePer Study
Gamucci, T., Pizzuti, L., Natoli, C., Mentuccia, L., Sperduti, I., Barba, M., Sergi, D., Iezzi, L., Maugeri-Saccà, M., Vaccaro, A., Magnolfi, E., Gelibter, A., Barchiesi, G., Magri, V., D’Onofrio, L., Cassano, A., Rossi, E., Botticelli, A., Moscetti, L., Omarini, C. & 29 others, Feb 1 2019, In : Cancer Biology and Therapy. 20, 2, p. 192-200 9 p.Research output: Contribution to journal › Article
Taxoids
Observational Studies
Retrospective Studies
Breast Neoplasms
Maintenance
A multicenter study of body mass index in cancer patients treated with anti-PD-1/PD-L1 immune checkpoint inhibitors: When overweight becomes favorable
Cortellini, A., Bersanelli, M., Buti, S., Cannita, K., Santini, D., Perrone, F., Giusti, R., Tiseo, M., Michiara, M., Di Marino, P., Tinari, N., De Tursi, M., Zoratto, F., Veltri, E., Marconcini, R., Malorgio, F., Russano, M., Anesi, C., Zeppola, T., Filetti, M. & 25 others, Feb 27 2019, In : Journal for ImmunoTherapy of Cancer. 7, 1, 57.Research output: Contribution to journal › Article
Open Access
Multicenter Studies
Body Mass Index
Neoplasms
Thinness
Renal Cell Carcinoma
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study
Nunziato, M., Esposito, M. V., Starnone, F., Diroma, M. A., Calabrese, A., Del Monaco, V., Buono, P., Frasci, G., Botti, G., D'Aiuto, M., Salvatore, F. & D'Argenio, V., 2019, In : Analytica Chimica Acta.Research output: Contribution to journal › Article
mutation
cancer
Genes
airborne thematic mapper
Breast Neoplasms
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation
Tini, G., Vianello, P. F., Gemelli, C., Grandis, M. & Canepa, M., Jan 1 2019, (Accepted/In press) In : Journal of Cardiovascular Translational Research.Research output: Contribution to journal › Article
Prealbumin
Cardiomyopathies
Amyloid
Mutation
Neurologic Manifestations
Analysis of LPI-causing mutations on y+LAT1 function and localization
Rotoli, B. M., Barilli, A., Ingoglia, F., Visigalli, R., Bianchi, M. G., Ferrari, F., Martinelli, D., Dionisi-Vici, C. & Dall'Asta, V., Mar 4 2019, In : Orphanet Journal of Rare Diseases. 14, 1, p. 63Research output: Contribution to journal › Article
Analysis of the drop-out rate in patients receiving mepolizumab for severe asthma in real life
Lombardi, C., Bagnasco, D., Caruso, C., D'Amato, M., Menzella, F., Milanese, M., Senna, G., Canonica, G. W. & Passalacqua, G., Feb 1 2019, In : Pulmonary Pharmacology and Therapeutics. 54, p. 87-89 3 p.Research output: Contribution to journal › Article
Asthma
Clinical Trials
Safety
Interleukin-5
Urticaria
Analytical Performance of 10 High-Volume Clinical Chemistry Assays on the Alinity c System
Krintus, M., Fernandez, J. A., Chesters, C., Colla, R., Ford, C., Frattolillo, D., Köller, U., Mairesse, J., Jimenez, D. M., Motol, J., Padmore, K., Sharrod-Cole, H. & Sypniewska, G., Jan 1 2019, In : Laboratory Medicine. 50, 1Research output: Contribution to journal › Article
Clinical Chemistry
Assays
Clinical laboratories
Testing
A national mandatory-split liver policy: A report from the Italian experience
Angelico, R., Trapani, S., Spada, M., Colledan, M., de Ville de Goyet, J., Salizzoni, M., De Carlis, L., Andorno, E., Gruttadauria, S., Ettorre, G. M., Cescon, M., Rossi, G., Risaliti, A., Tisone, G., Tedeschi, U., Vivarelli, M., Agnes, S., De Simone, P., Lupo, L. G., Di Benedetto, F. & 11 others, Jan 1 2019, In : American Journal of Transplantation.Research output: Contribution to journal › Article
Liver Transplantation
Liver
Tissue Donors
Waiting Lists
Pediatrics
A nationwide survey of reprocessing, facilities and nursing personnel in Italian endoscopy units
Guarini, A., Rossetti, E., Simonelli, P., Iannone, T., Carretto, D., Giaquinto, A., Iori, G., Valdinoci, M. & Rivara, C., Feb 1 2019, In : Gastrointestinal Nursing. 17, p. S30-S34Research output: Contribution to journal › Article
Endoscopy
Nurses
Research Personnel
Italy
Recovery Room
Anatomical resections are superior to wedge resections for overall survival in patients with Stage 1 typical carcinoids
ESTS NETs-WG Steering Committee, 2019, In : European Journal of Cardio-thoracic Surgery.Research output: Contribution to journal › Article
Carcinoid Tumor
Survival
Confidence Intervals
Propensity Score
Segmental Mastectomy
Anatomic variations of the round window niche: radiological study and related endoscopic anatomy
Canzi, P., Avato, I., Manfrin, M., Simoncelli, A. M., Magnetto, M., Rebecchi, E., Tinelli, C., Neri, M., Beltrame, M. A. & Benazzo, M., Jan 1 2019, In : Surgical and Radiologic Anatomy.Research output: Contribution to journal › Review article
Anatomic Variation
Temporal Bone
Anatomy
Membranes
Deafness
A network analysis based approach to characterizing periodic sharp wave complexes in electroencephalograms of patients with sporadic CJD
LoLo Giudice, P., Ursino, D., Mammone, N., Morabito, F. C., Aguglia, U., Cianci, V., Ferlazzo, E. & Gasparini, S., Jan 2019, In : International Journal of Medical Informatics. 121, p. 19-29 11 p.Research output: Contribution to journal › Article
Creutzfeldt-Jakob Syndrome
Electroencephalography
Prion Diseases
Brain
Aneuploidy: Cancer strength or vulnerability?
Simonetti, G., Bruno, S., Padella, A., Tenti, E. & Martinelli, G., Jan 1 2019, In : International Journal of Cancer. 144, 1, p. 8-25 18 p.Research output: Contribution to journal › Review article
Aneuploidy
M Phase Cell Cycle Checkpoints
Neoplasms
Chromosomal Instability
Genes
An evaluation of the Movement ABC-2 Test for use in Italy: A comparison of data from Italy and the UK
Zoia, S., Biancotto, M., Guicciardi, M., Lecis, R., Lucidi, F., Pelamatti, G. M., Carrozzi, M., Skabar, A., Sugden, D. A., Barnett, A. L. & Henderson, S. E., Jan 1 2019, In : Research in Developmental Disabilities. 84, p. 43-56 14 p.Research output: Contribution to journal › Article
Italy
Cultural Diversity
Statistical Factor Analysis
Population
A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options
Moutafi, M., Ziogas, D. C., Michopoulos, S., Bagratuni, T., Vasileiou, V., Verga, L., Merlini, G., Palladini, G., Matsouka, C., Dimopoulos, M. A. & Kastritis, E., Jan 21 2019, In : BMC Medical Genetics. 20, 1, 1 p.Research output: Contribution to journal › Article
Familial Amyloidosis
Apolipoprotein A-I
Amyloidosis
Hypogonadism
Liver
A new human calpastatin skipped of the inhibitory region protects calpain-1 from inactivation and degradation
Sparatore, B., Pedrazzi, M., Garuti, A., Franchi, A., Averna, M., Ballestrero, A. & De Tullio, R., Aug 1 2019, In : Biochimica et Biophysica Acta - Molecular Cell Research. 1866, 8, p. 1260-1271 12 p.Research output: Contribution to journal › Article
A new medical therapy for anemia in thalassemia
Angelucci, E., Mar 21 2019, In : Blood. 133, 12, p. 1267-1268 2 p.Research output: Contribution to journal › Article
Open Access
A new sensory feedback system for lower-limb amputees: Assessment of discrete vibrotactile stimuli perception during walking
Filosa, M., Cesini, I., Martini, E., Spigler, G., Vitiello, N., Oddo, C. & Crea, S., Jan 1 2019, Biosystems and Biorobotics. Springer International Publishing AG, p. 105-109 5 p. (Biosystems and Biorobotics; vol. 22).Research output: Chapter in Book/Report/Conference proceeding › Chapter
Sensory feedback
Chemical activation
A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency
Aydin Köker, S., Oymak, Y., Bianchi, P., Gözmen, S., Karapinar, T. H., Fermo, E. & Vergin, R. C., 2019, In : Journal of Pediatric Hematology/Oncology. 41, 1, p. e1-e2Research output: Contribution to journal › Article
Hemolysis
Diagnostic Errors
Hemolytic Anemia
Fathers
Genes
An Ex Vivo Human Tumor Assay Shows Distinct Patterns of EGFR Trafficking in Squamous Cell Carcinoma Correlating to Therapeutic Outcomes
Joseph, S. R., Gaffney, D., Barry, R., Hu, L., Banushi, B., Wells, J. W., Lambie, D., Strutton, G., Porceddu, S. V., Burmeister, B., Leggatt, G. R., Schaider, H., Dolcetti, R., Frazer, I. H., Saunders, N. A., Foote, M., Soyer, H. P. & Simpson, F., Jan 1 2019, In : Journal of Investigative Dermatology. 139, 1, p. 213-223 11 p.Research output: Contribution to journal › Article
Endocytosis
Tumors
Squamous Cell Carcinoma
Assays
Actinic Keratosis
Angiosarcoma and anaplastic carcinoma of the thyroid are two distinct entities: a morphologic, immunohistochemical, and genetic study
Kuhn, E., Ragazzi, M., Ciarrocchi, A., Torricelli, F., de Biase, D., Zanetti, E., Bisagni, A., Corrado, S., Uccella, S., La Rosa, S., Bongiovanni, M., Losito, S. & Piana, S., Jan 1 2019, In : Modern Pathology.Research output: Contribution to journal › Article
Hemangiosarcoma
Carcinoma
Mutation
Thyroid Gland
Anaplastic Thyroid Carcinoma
An image-based kinematic model of the tibiotalar and subtalar joints and its application to gait analysis in children with Juvenile Idiopathic Arthritis
MD-Paedigree consortium, Mar 6 2019, In : Journal of Biomechanics. 85, p. 27-36 10 p.Research output: Contribution to journal › Article
Subtalar Joint
Gait analysis
Juvenile Arthritis
Gait
Biomechanical Phenomena
Animal Models of Steatosis (NAFLD) and Steatohepatitis (NASH) Exhibit Hepatic Lobe-Specific Gelatinases Activity and Oxidative Stress
Palladini, G., Di Pasqua, L. G., Berardo, C., Siciliano, V., Richelmi, P., Perlini, S., Ferrigno, A. & Vairetti, M., Jan 1 2019, In : Canadian Journal of Gastroenterology and Hepatology. 2019, 5413461.Research output: Contribution to journal › Article
Open Access
Gelatinases
Fatty Liver
Oxidative Stress
Animal Models
Zucker Rats
An increased body mass index is associated with a worse prognosis in patients administered BCG immunotherapy for T1 bladder cancer
Ferro, M., Vartolomei, M. D., Russo, G. I., Cantiello, F., Farhan, A. R. A., Terracciano, D., Cimmino, A., Di Stasi, S., Musi, G., Hurle, R., Serretta, V., Busetto, G. M., De Berardinis, E., Cioffi, A., Perdonà, S., Borghesi, M., Schiavina, R., Cozzi, G., Almeida, G. L., Bove, P. & 15 others, Mar 2019, In : World Journal of Urology. 37, 3, p. 507-514 8 p.Research output: Contribution to journal › Article
Urinary Bladder Neoplasms
Immunotherapy
Bacillus
Body Mass Index
Recurrence
An Increase in Membrane Cholesterol by Graphene Oxide Disrupts Calcium Homeostasis in Primary Astrocytes
Bramini, M., Chiacchiaretta, M., Armirotti, A., Rocchi, A., Kale, D. D., Martin, C., Vázquez, E., Bandiera, T., Ferroni, S., Cesca, F. & Benfenati, F., Apr 12 2019, In : Small. 15, 15, 1900147.Research output: Contribution to journal › Article
1
Citation
(Scopus)
An initial experience of high-density mapping-guided ablation in a cohort of patients with adult congenital heart disease
Ernst, S., Cazzoli, I. & Guarguagli, S., Jan 1 2019, In : Europace. 21, p. I43-I53Research output: Contribution to journal › Article
Open Access
Heart Diseases
Cardiac Arrhythmias
Cardiac Catheters
Supraventricular Tachycardia
Catheter Ablation
An in vivo confocal, prospective, masked, 36 months study on glaucoma patients medically treated with preservative-free or preserved monotherapy
Rossi, G. C. M., Scudeller, L., Lumini, C., Mirabile, A. V., Picasso, E., Bettio, F., Pasinetti, G. M. & Bianchi, P. E., Dec 1 2019, In : Scientific Reports. 9, 1, 4282.Research output: Contribution to journal › Article
Open Access
Glaucoma
Confocal Microscopy
Intraocular Pressure
Prescriptions
tafluprost
Annual mammography at age 45–49 years and biennial mammography at age 50–69 years: comparing performance measures in an organised screening setting
on behalf of the Emilia-Romagna Region Workgroup for Mammography Screening Evaluation, Jan 1 2019, In : European Radiology.Research output: Contribution to journal › Article
Mammography
Biopsy
Neoplasms
Referral and Consultation
Incidence
A Nomogram for Predicting Cancer-Specific Survival of TNM 8th Edition Stage I Non-small-cell Lung Cancer
the AME Thoracic Surgery Collaborative Group, Jan 1 2019, In : Annals of Surgical Oncology.Research output: Contribution to journal › Article
Nomograms
Non-Small Cell Lung Carcinoma
Adjuvant Chemotherapy
Survival
Databases
A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma
De Luise, M., Guarnieri, V., Ceccarelli, C., D'Agruma, L., Porcelli, A. M. & Gasparre, G., Jan 1 2019, In : Oxidative Medicine and Cellular Longevity. 2019, 1 p.Research output: Contribution to journal › Article
Mitochondrial DNA
Tumors
Defects
Mutation
Carbonic Anhydrases
A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function
Fratta, P., Ornaghi, F., Dati, G., Zambroni, D., Saveri, P., Belin, S., D'Adamo, P., Shy, M., Quattrini, A., Laura Feltri, M. & Wrabetz, L., Jan 1 2019, In : Human Molecular Genetics. 28, 1, p. 124-132 9 p.Research output: Contribution to journal › Article
Myelin P0 Protein
Nonsense Codon
Phenotype
Membranes
Myelin Sheath
An open-label, multicentre safety study of vemurafenib in patients with BRAFV600-mutant metastatic melanoma: final analysis and a validated prognostic scoring system
Larkin, J., Brown, M. P., Arance, A. M., Hauschild, A., Queirolo, P., Vecchio, M. D., Ascierto, P. A., Krajsová, I., Schachter, J., Neyns, B., Garbe, C., Sileni, V. C., Mandalà, M., Gogas, H., Espinosa, E., Hospers, G., Lorigan, P., Nyakas, M., Guminski, A., Liszkay, G. & 5 others, Jan 1 2019, In : European Journal of Cancer. 107, p. 175-185 11 p.Research output: Contribution to journal › Article
Multicenter Studies
Melanoma
Safety
Mutation
PLX4032
An open-label, multicentre safety study of vemurafenib in patients with BRAFV600-mutant metastatic melanoma: final analysis and a validated prognostic scoring system
Larkin, J., Brown, M. P., Arance, A. M., Hauschild, A., Queirolo, P., Vecchio, M. D., Ascierto, P. A., Krajsová, I., Schachter, J., Neyns, B., Garbe, C., Sileni, V. C., Mandalà, M., Gogas, H., Espinosa, E., Hospers, G., Lorigan, P., Nyakas, M., Guminski, A., Liszkay, G. & 5 others, Jan 2019, In : European Journal of Cancer. 107, p. 175-185 11 p.Research output: Contribution to journal › Article
Multicenter Studies
Melanoma
Safety
Mutation
PLX4032
1
Citation
(Scopus)
A novel deep learning approach in haematology for classification of leucocytes
Bevilacqua, V., Brunetti, A., Trotta, G. F., De Marco, D., Quercia, M. G., Buongiorno, D., D’Introno, A., Girardi, F. & Guarini, A., Jan 1 2019, Smart Innovation, Systems and Technologies. Springer Science and Business Media Deutschland GmbH, p. 265-274 10 p. (Smart Innovation, Systems and Technologies; vol. 103).Research output: Chapter in Book/Report/Conference proceeding › Chapter
Classifiers
Neural networks
Computer aided diagnosis
Lymphocytes
Backpropagation
A novel dendritic cell-based vaccination protocol to stimulate immunosurveillance of aggressive cancers
Nigro, A., Montico, B., Casolaro, V. & Dal Col, J., Jan 1 2019, Methods in Molecular Biology. Humana Press Inc., p. 317-333 17 p. (Methods in Molecular Biology; vol. 1884).Research output: Chapter in Book/Report/Conference proceeding › Chapter
Immunologic Monitoring
Dendritic Cells
Vaccination
Neoplasms
Cell Death
A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
Palumbo, P., Petracca, A., Maggi, R., Biagini, T., Nardella, G., Sacco, M. C., Di Schiavi, E., Carella, M., Micale, L. & Castori, M., Jan 1 2019, In : European Journal of Human Genetics.Research output: Contribution to journal › Article
MAP Kinase Signaling System
Fibroblast Growth Factor 2
Holoprosencephaly
Exome
Autophagy
A novel mutation in the N-terminal acting-binding domain of Filamin C protein causing a distal myofibrillar myopathy
Gemelli, C., Prada, V., Fiorillo, C., Fabbri, S., Maggi, L., Geroldi, A., Gibertini, S., Mandich, P., Trevisan, L., Fossa, P., Tagliafico, A. S., Schenone, A. & Grandis, M., Mar 15 2019, In : Journal of the Neurological Sciences. 398, p. 75-78 4 p.Research output: Contribution to journal › Letter
Distal Myopathies
Filamins
Muscular Diseases
Mutation
Leg