I. Fineza: search on Z-Library

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1

LAMA2 gene mutation update: Towards a more comprehensive picture of the laminin-α2 variome and its related phenotypes

Oliveira, Jorge, Gruber, Angela, Cardoso, Márcio, Taipa, Ricardo, Fineza, Isabel, Gonçalves, Ana, Laner, Andreas, Winder, Thomas L., Schroeder, Jocelyn, Rath, Julie, Oliveira, Márcia, Vieira, Emília,

Journal:

Year:

2018

File:

PDF, 1.32 MB

2018

2

Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin

L. Vilarinho, M.L. Cardoso, P. Gaspar, C. Barbot, L. Azevedo, L. Diogo, M. Santos, I. Carrilho, I. Fineza, F. Kok, R. Chorão, P. Alegria, E. Martins, J. Teixeira, H. Cabral Fernandes, N.M. Verhoeven,

Journal:

Year:

2005

Language:

english

File:

PDF, 156 KB

english, 2005

3

Macrocephaly as the presenting feature ofl-2-hydroxyglutaric aciduria in a 5-month-old boy

L. Diogo, I. Fineza, J. Canha, L. Borges, M. L. Cardoso, L. Vilarinho

Journal:

Journal of Inherited Metabolic Disease

Year:

1996

Language:

english

File:

PDF, 156 KB

english, 1996

4

Novel synonymous substitution inPOMGNT1promotes exon skipping in a patient with congenital muscular dystrophy

Jorge Oliveira, Isabel Soares-Silva, Ivo Fokkema, Ana Gonçalves, Alexandra Cabral, Luísa Diogo, Lucía Galán, António Guimarães, Isabel Fineza, Johan T. den Dunnen, Rosário Santos

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 376 KB

english, 2008

5

G.P.7 07 Epidemiology of neuromuscular disorders in Portugal at pediatric age

M.A. Santos, I. Fineza, T. Moreno, P. Cabral, J.C. Ferreira, R.L. Silva, J.P. Vieira, A. Moreira, A. Dias, E. Calado, J.P. Monteiro, M.J. Fonseca, C. Moço, F. Furtado, M. Campos, R. Gomes, C. Barbosa,

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

6

G.P.11.11 Hereditary neuropathies in children – The Portuguese reality

T. Moreno, M. Santos, M. Fonseca, J. Monteiro, J. Vieira, I. Fineza, P. Cabral, J. Ferreira, C. Moço, F. Furtado

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

7

C.P.3.13 Silent exonic substitution in POMGnT1 promotes exon skipping in a CMD patient

J. Oliveira, I. Soares-Silva, A. Gonçalves, I. Fokkema, A. Cabral, L. Diogo, L. Galán, A. Guimarães, I. Fineza, J. den Dunnen, R. Santos

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

8

P1.4 Molecular profile of 307 Portuguese patients with dystrophinopathy, including 39 new variants

M.R. dos Santos, A.R. Gonçalves, E.M. Vieira, M. Santos, I. Fineza, T. Moreno, J.P. Vieira, E. Bronze-da-Rocha

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

9

P2.20 Fukuyama congenital muscle dystrophy: A rare mutation

C.P. Costa, I. Fineza

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 46 KB

english, 2011

10

P3.19 Neonatal presentation of Charcot-Marie-Tooth disease: A new mutation in Mitofusin 2 gene

C.P. Costa, I. Fineza

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 45 KB

english, 2011

11

P3.18 Hereditary polyneuropathies in a neuromuscular pediatric consultation

F. Sá, J. Raposo, C. Costa, M. Vasconcelos, C. Robalo, I. Fineza

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 46 KB

english, 2011

12

P3.29 Pediatric chronic inflammatory demyelinantig polyneuropathy and reversible posterior leukoencephalopathy – case report

F. Sá, C. Costa, M. Vasconcelos, C. Robalo, L. Negrão, I. Fineza

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

13

Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

Luísa Diogo, Miguel Cordeiro, Paula Garcia, Isabel Fineza, Cristina Moura, Catarina Resende Oliveira, Margarida Veiga, Teresa Garcia, Manuela Grazina

Journal:

Pediatric Neurology

Year:

2010

Language:

english

File:

PDF, 345 KB

english, 2010

14

l-2-Hydroxyglutaric aciduria: clinical, biochemical and magnetic resonance imaging in six Portuguese pediatric patients

Clara Barbot, Isabel Fineza, Luisa Diogo, Maria Maria, José Melo, António Guimara˜es, Manuel Melo Pires, Maria Luis Cardoso, Laura Vila rinho

Journal:

Brain and Development

Year:

1997

Language:

english

File:

PDF, 872 KB

english, 1997

15

Autosomal Recessive Axonal Neuropathy With Neuromyotonia: A Rare Entity

Caetano, Joana Serra, Costa, Carmen, Baets, Jonathan, Zimon PhD, Madgalena, Venâncio PhD, Margarida, Saraiva PhD, Jorge, Negrão, Luís, Fineza, Isabel

Journal:

Pediatric Neurology

Year:

2014

Language:

english

File:

PDF, 599 KB

english, 2014

16

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene

Costa, C., Oliveira, J., Gonçalves, A., Santos, R., Bronze-da-Rocha, E., Rebelo, O., Pais, R.P., Fineza, I.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 1.39 MB

english, 2013

17

New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy

Santos, Rosário, Gonçalves, Ana, Oliveira, Jorge, Vieira, Emília, Vieira, José Pedro, Evangelista, Teresinha, Moreno, Teresa, Santos, Manuela, Fineza, Isabel, Bronze-da-Rocha, Elsa

Journal:

Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

18

Leukotoxin (Leukothera(R)) Targets Active Leukocyte Function Antigen-1 (LFA-1) Protein and Triggers a Lysosomal Mediated Cell Death Pathway

DiFranco, K. M., Gupta, A., Galusha, L. E., Perez, J., Nguyen, T.-V. K., Fineza, C. D., Kachlany, S. C.

Journal:

Journal of Biological Chemistry

Year:

2012

Language:

english

File:

PDF, 2.94 MB

english, 2012

19

New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing

Oliveira, Jorge, Negrão, Luís, Fineza, Isabel, Taipa, Ricardo, Melo-Pires, Manuel, Fortuna, Ana Maria, Gonçalves, Ana Rita, Froufe, Hugo, Egas, Conceição, Santos, Rosário, Sousa, Mário

Journal:

Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

20

Recessive Ataxia With Ocular Apraxia

Barbot, Clara, Coutinho, Paula, Chorão, Rui, Ferreira, Carla, Barros, José, Fineza, Isabel, Dias, Karin, Monteiro, José P., Guimarães, António, Mendonça, Pedro, do Céu Moreira, Maria, Sequeiros, Jorge

Journal:

Archives of Neurology

Year:

2001

Language:

english

File:

PDF, 85 KB

english, 2001

21

Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

Lopes, Fátima, Barbosa, Mafalda, Temudo, Teresa, de Sá, Joaquim, Dias, Ana Isabel, Oliveira, Guiomar, Cabral, Pedro, Calado, Eulália, Cruz, Isabel Fineza, Soares, Gabriela, Vieira, José Pedro, Venânci

Journal:

International Journal of Developmental Neuroscience

Year:

2015

Language:

english

File:

PDF, 67 KB

english, 2015

22

Identification of novel genetic causes of Rett syndrome- like phenotypes

Lopes, Fátima, Barbosa, Mafalda, Ameur, Adam, Soares, Gabriela, de Sá, Joaquim, Dias, Ana Isabel, Oliveira, Guiomar, Cabral, Pedro, Temudo, Teresa, Calado, Eulália, Cruz, Isabel Fineza, Vieira, José P

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 595 KB

english, 2016

23

Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl

Grilo, Ema, Pinto, Joana, Caetano, Joana Serra, Pereira, Helena, Cardoso, Patrícia, Cardoso, Rita, Dinis, Isabel, Pereira, Cristina, Fineza, Isabel, Mirante, Alice

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2016

Language:

english

File:

PDF, 602 KB

english, 2016

24

Atrofia muscular espinhal – Apoio ventilatório não invasivo em pediatria

Vasconcelos, Mónica, Fineza, Isabel, Félix, Miguel, Estêvão, Maria Helena

Journal:

Revista Portuguesa de Pneumologia

Year:

2005

File:

PDF, 778 KB

2005

25

BRAINSTEM AUDITORY EVOKED RESPONSES IN COCAINE-EXPOSED NEONATES

Ankola, Pratibha A., Harden, Cynthia L., Daras, Michael, Fineza, Belen, Gupta, Vidya Bhushan, Amurao, Aurora

Journal:

Journal of Clinical Neurophysiology

Year:

1993

File:

PDF, 108 KB

1993

26

Screening for Pompe disease in a Portuguese high risk population

Almeida, Vânia, Conceição, Isabel, Fineza, Isabel, Coelho, Teresa, Silveira, Fernando, Santos, Manuela, Valverde, Ana, Geraldo, Argemiro, Maré, Ricardo, Aguiar, Teresa Carolina, Mendonça, Carla, Marti

Journal:

Neuromuscular Disorders

Year:

2017

File:

PDF, 678 KB

2017

27

Optimization of mechanical properties in concrete reinforced with fibers from solid urban wastes (PET bottles) for the production of ecological concrete

Pereira, Erlon Lopes, de Oliveira Junior, André Luis, Fineza, Adonai Gomes

Journal:

Construction and Building Materials

Year:

2017

Language:

english

File:

PDF, 2.23 MB

english, 2017

28

Suspecting of neuromuscular disease in newborns: Clinical variables more suggestive of the diagnosis in 20 years of experience

Palavra, Filipe, Costa, Carmen, Ramos, Lina, Fineza, Isabel, Taborda, Adelaide

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 60 KB

english, 2017

29

Phenotypic variability of myopathies associated with LAMA2 gene mutations

Palavra, Filipe, Costa, Carmen, Ribeiro, Vera, Araújo, Henriqueta, Fineza, Isabel

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 61 KB

english, 2017

30

548 RESPONSE OF SERUM TOTAL CHOLESTEROL AND HIGH DENSITY LIPOPROTEIN (HDL) LEVELS IK PREMATURE INFANTS TO VARIATIONS IN DIETARY LEVELS OF POLYUNSATURATED FATTY ACIDS (PUFA)

Fineza, Belan, Rudolph, Nathan, Parekh, Aruna, Glass, Leonard

Journal:

Pediatric Research

Year:

1981

Language:

english

File:

PDF, 152 KB

english, 1981

31

1565 ACUTE RENAL FAILURE IN PRETERM INFANTS

Yuceoglu, A M, Fineza, B, Sampaga, M, Holipas, E

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 158 KB

english, 1985

32

Matrix Metalloproteinase-1 Levels as a Predictive Marker of Oral Mucositis Severity Among Head and Neck Carcinoma Patients Undergoing Radiation Therapy

Flores, J.A.S., Calaguas, M.J., Fineza, A.M.B., Vasquez, R.D., Flores, A.R.F.

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

2017

Language:

english

File:

PDF, 164 KB

english, 2017

33

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Oliveira Santos, M., Falcão de Campos, C., Garrido, C., Conceição, I., Palavra, F., Negrão, L., Pedro Vieira, J., Mendonça, C., Coelho, T., Fineza, I., Santos, M., Moreno, T.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 70 KB

english, 2018

34

DUCHENNE MUSCULAR DYSTROPHY – CLINICAL

Garrido, C., Palavra, F., Cardoso, M., Sousa, A., Rocha, R., Alves, D., Santos, M., Vila Real, M., Vieira, J., Coelho, T., Fineza, I., Moreno, T., Santos, M.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 65 KB

english, 2018

35

A bizarre gait as a result of overlapping functional disorder with Coffin Lowry syndrome

Brás, Ana, Pedruco, Alexandra, Maia, Sofia, Fineza, Isabel, Morgadinho, Ana, Bento, Conceição

Journal:

Movement Disorders Clinical Practice

Year:

2019

Language:

english

File:

PDF, 731 KB

english, 2019

36

GNAO1 mutation presenting as dyskinetic cerebral palsy

Malaquias, Maria João, Fineza, Isabel, Loureiro, Leal, Cardoso, Luís, Alonso, Isabel, Magalhães, Marina

Journal:

Neurological Sciences

Year:

2019

Language:

english

File:

PDF, 317 KB

english, 2019

37

GNAO1 mutation presenting as dyskinetic cerebral palsy

Malaquias, Maria João, Fineza, Isabel, Loureiro, Leal, Cardoso, Luís, Alonso, Isabel, Magalhães, Marina

Journal:

Neurological Sciences

Year:

2019

File:

PDF, 317 KB

2019

38

The influence of partial replacement of natural SAND aggregates by grits residues on the mechanical properties of an ecological MORTAR

Luis de Oliveira Júnior, André, Pedroti, Leonardo Gonçalves, de Assis Oliveira, Jaqueline, Hilarino Fernandes, Wellington Emílio, Fineza, Adonai Gomes, Monteiro, Sergio Neves, Nalon, Gustavo Henrique

Journal:

Journal of Building Engineering

Year:

2019

Language:

english

File:

PDF, 849 KB

english, 2019

39

The influence of partial replacement of natural SAND aggregates by grits residues on the mechanical properties of an ecological MORTAR

Luis de Oliveira Júnior, André, Pedroti, Leonardo Gonçalves, de Assis Oliveira, Jaqueline, Hilarino Fernandes, Wellington Emílio, Fineza, Adonai Gomes, Monteiro, Sergio Neves, Nalon, Gustavo Henrique

Journal:

Journal of Building Engineering

Year:

2019

File:

PDF, 849 KB

2019

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