Publications by authors named "Salmo Raskin"

100Publications

Genetics of COVID-19.

Authors:
Salmo Raskin

J Pediatr (Rio J) 2020 Oct 7. Epub 2020 Oct 7.

Laboratório Genetika, Curitiba, PR, Brazil; Comitê Científico de Genética, Sociedade Brasileira de Pediatria, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jped.2020.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539923PMC
October 2020

A comprehensive analysis of AHRR gene as a candidate for cleft lip with or without cleft palate.

Mutat Res 2020 Jul - Sep;785:108319. Epub 2020 Jun 5.

Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil; Research Department, Lico Kaesemodel Institute (ILK), Curitiba, Paraná, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.mrrev.2020.108319DOI Listing
September 2020

Analysis of diffusion tensor parameters in spinocerebellar ataxia type 3 and type 10 patients.

Parkinsonism Relat Disord 2020 Jul 27;78:73-78. Epub 2020 Jul 27.

Movement Disorders Unit, Neurology Service, Department of Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil; Neurological Disorders Unit, Postgraduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1016/j.parkreldis.2020.06.460DOI Listing
July 2020

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review.

Arq Neuropsiquiatr 2020 Sep;78(9):576-585

Universidade Federal do Paraná, Departamento de Clínica Médica, Serviço de Neurologia, Setor de Distúrbios do Movimento, Hospital das Clínicas, Curitiba PR, Brazil.

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http://dx.doi.org/10.1590/0004-282x20200017DOI Listing
September 2020

Comment on: Diagnosis of Aicardi-Goutières Syndrome in Adults.

Mov Disord Clin Pract 2020 Jul 27;7(5):583-584. Epub 2020 Apr 27.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas Federal University of Paraná Curitiba/PR Brazil.

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http://dx.doi.org/10.1002/mdc3.12958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7328423PMC
July 2020

Volumetric MRI Changes in Spinocerebellar Ataxia (SCA3 and SCA10) Patients.

Cerebellum 2020 Aug;19(4):536-543

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil.

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http://dx.doi.org/10.1007/s12311-020-01137-3DOI Listing
August 2020

Cerebellar and thalamic degeneration in spinocerebellar ataxia type 10.

Parkinsonism Relat Disord 2020 Jul 13;76:76-77. Epub 2020 Mar 13.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.03.007DOI Listing
July 2020

Neuroradiological Findings in the Spinocerebellar Ataxias.

Tremor Other Hyperkinet Mov (N Y) 2019 26;9. Epub 2019 Sep 26.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, BR.

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http://dx.doi.org/10.7916/tohm.v0.682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6765228PMC
March 2020

Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.

Cerebellum 2019 Oct;18(5):849-854

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 1103/102, Centro, Curitiba, PR, 80060-150, Brazil.

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http://dx.doi.org/10.1007/s12311-019-01064-yDOI Listing
October 2019

Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families.

Clin Neurol Neurosurg 2019 Sep 10;184:105427. Epub 2019 Jul 10.

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal, University of Paraná, Curitiba, Brazil; Neurological Diseases Group, Graduate Program in Internal Medicine, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03038467193022
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http://dx.doi.org/10.1016/j.clineuro.2019.105427DOI Listing
September 2019

Hyposkillia and spanophilia in the movement disorders rounds.

Mov Disord 2019 09 18;34(9):1399. Epub 2019 Jun 18.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital das Clínicas, The Federal University of Minas Gerais, Belo Horizonte, MG, Brazil.

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http://dx.doi.org/10.1002/mds.27735DOI Listing
September 2019

PIBIDS syndrome in two Brazilian siblings.

BMJ Case Rep 2018 Dec 22;11(1). Epub 2018 Dec 22.

Department of Genetics, Universidade Federal do Parana, Curitiba, Brazil.

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http://dx.doi.org/10.1136/bcr-2017-223744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6307604PMC
December 2018

Abnormal Findings in Polysomnographic Recordings of Patients with Spinocerebellar Ataxia Type 2 (SCA2).

Cerebellum 2019 Apr;18(2):196-202

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Parana, Rua General Carneiro, 181 - Alto da Glória, Curitiba, 80060-900, Brazil.

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http://dx.doi.org/10.1007/s12311-018-0982-xDOI Listing
April 2019

Dystonia in Patients with Spinocerebellar Ataxia 3 - Machado-Joseph disease: An Underestimated Diagnosis?

Open Neurol J 2018 31;12:41-49. Epub 2018 May 31.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.2174/1874205X01812010041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008980PMC
May 2018

Olfactory Function in SCA10.

Cerebellum 2019 Feb;18(1):85-90

Postgraduate Program in Medicine, Universidade Nove de Julho, Uninove, São Paulo, Brazil.

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http://dx.doi.org/10.1007/s12311-018-0954-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452857PMC
February 2019

Sleep disorders in spinocerebellar ataxia type 10.

J Sleep Res 2018 10 6;27(5):e12688. Epub 2018 Apr 6.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.1111/jsr.12688DOI Listing
October 2018

Spinocerebellar ataxias type 3 and 10: Onset and progression of ataxia during pregnancy and puerperium.

Parkinsonism Relat Disord 2018 07 27;52:119-120. Epub 2018 Mar 27.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2018.03.025DOI Listing
July 2018

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Cerebellum 2018 Jun;17(3):380-385

Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University Health Network, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s12311-017-0909-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970027PMC
June 2018

Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10.

Cerebellum 2017 Dec;16(5-6):938-944

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, General Carneiro, 181, Curitiba, PR, 80060-900, Brazil.

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http://dx.doi.org/10.1007/s12311-017-0869-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718954PMC
December 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Itajaí, Santa Catarina - Azorean ancestry and spinocerebellar ataxia type 3.

Arq Neuropsiquiatr 2016 10;74(10):858-860

University of Toronto, Toronto Western Hospital, Movement Disorders Centre, Ontário ON, Canada.

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http://dx.doi.org/10.1590/0004-282X20160125DOI Listing
October 2016

Familial striatal degeneration: New mutation and neuroimaging clues.

Neurology 2015 Nov 16;85(20):1816-8. Epub 2015 Oct 16.

From the Universidade Federal de São Paulo (O.G.P.B., J.L.P.); Jardim Cuiabá Hospital (P.d.M.M.), Cuiabá, MT; Universidade de São Paulo School of Medicine (H.F.C.); Pontifícia Universidade Católica do Paraná (PUCPR) Curitiba (S.R.), PR; Genetika-Centro de Aconselhamento e Laboratório de Genética (S.R.), Curitiba, PR, Brazil; the University of North Carolina at Chapel Hill (R.H.N.); and Santa Casa de Misericórdia de São Paulo (R.H.N., A.J.d.R.), Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000002128DOI Listing
November 2015

A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia.

JAMA Neurol 2015 Aug;72(8):942-3

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1001/jamaneurol.2015.0888DOI Listing
August 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome.

J Neurol Sci 2015 Aug 29;355(1-2):3-6. Epub 2015 May 29.

Neurology Department and McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1016/j.jns.2015.05.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161405PMC
August 2015

Diffusion tensor imaging and tract-based spatial statistics analysis in Friedreich's ataxia patients.

Parkinsonism Relat Disord 2015 May 11;21(5):504-8. Epub 2015 Mar 11.

Federal University of Parana, Hospital de Clinicas: R. Gen. Carneiro, 181, Alto da Glória, Curitiba, Parana 80060-900, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.02.021DOI Listing
May 2015

Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia.

Arq Neuropsiquiatr 2014 Oct;72(10):753-6

Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/0004-282x20140123DOI Listing
October 2014

Movement disorders in spinocerebellar ataxias in a cohort of Brazilian patients.

Eur Neurol 2014 14;72(5-6):360-2. Epub 2014 Oct 14.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba PR, Brazil.

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http://dx.doi.org/10.1159/000365285DOI Listing
July 2015

'Pseudo-Dominant' Inheritance in Friedreich's Ataxia: Clinical and Genetic Study of a Brazilian Family.

Mov Disord Clin Pract 2014 Dec 30;1(4):361-363. Epub 2014 Sep 30.

Movement Disorders Unit Neurology Service Internal Medicine Department Hospital de Clínicas Federal University of Paraná Curitiba Paraná Brazil.

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http://dx.doi.org/10.1002/mdc3.12087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182984PMC
December 2014

Spinocerebellar ataxia type 3: subphenotypes in a cohort of Brazilian patients.

Arq Neuropsiquiatr 2014 Sep;72(9):659-62

Setor de Neurologia, Departamento de Medicina Interna, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/0004-282x20140129DOI Listing
September 2014

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.

Tremor Other Hyperkinet Mov (N Y) 2014 15;4:226. Epub 2014 Apr 15.

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.7916/D83776RCDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992363PMC
April 2014

A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.

Gene 2014 May 5;542(1):83-6. Epub 2014 Mar 5.

Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.02.058DOI Listing
May 2014

Cervical dystonia: about familial and sporadic cases in 88 patients.

Arq Neuropsiquiatr 2014 Feb;72(2):107-13

Unidade de Distúrbios do Movimento, Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil, Unidade de Distúrbios do Movimento, Serviço de Neurologia, Hospital de Clínicas - Universidade Federal do Paraná, Curitiba, Brazil;

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http://dx.doi.org/10.1590/0004-282X20130225DOI Listing
February 2014

Adult onset Alexander disease presenting with progressive spastic paraplegia.

Parkinsonism Relat Disord 2014 Feb 22;20(2):241-2. Epub 2013 Oct 22.

Department of Neurology, Division of Neuromuscular Disorders, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.parkreldis.2013.10.014DOI Listing
February 2014

Folic acid for the prevention of neural tube defects.

Rev Bras Ginecol Obstet 2013 Jul;35(7):287-9

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http://dx.doi.org/10.1590/s0100-72032013000700001DOI Listing
July 2013

Clinical relevance of "bulging eyes" for the differential diagnosis of spinocerebellar ataxias.

Arq Neuropsiquiatr 2013 Jul;71(7):428-30

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, UFPR, Curitiba PR, Brazil.

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http://dx.doi.org/10.1590/0004-282X20130056DOI Listing
July 2013

Richieri-costa and Pereira syndrome: severe phenotype.

Am J Med Genet A 2013 Aug 21;161A(8):1999-2003. Epub 2013 Jun 21.

Clinical Geneticist, Hospital Pequeno Príncipe, Curitiba, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35989DOI Listing
August 2013

Clinical and epidemiological study of orofacial clefts.

J Pediatr (Rio J) 2013 Mar-Apr;89(2):137-44

Programa de Pós-graduação em Ciências da Saúde PPGCS, Centro de Ciências Biológicas e da Saúde CCBS, Pontifícia Universidade Católica do Paraná PUCPR, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1016/j.jped.2013.03.010DOI Listing
August 2013

Spinal muscular atrophy due to a "de novo" 1.3 Mb deletion: implication for genetic counseling.

Neuromuscul Disord 2013 May 1;23(5):388-90. Epub 2013 Mar 1.

Medical Genetics Center, Department of Morphology and Genetics, Federal University of São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.nmd.2013.01.009DOI Listing
May 2013

Paradoxical effects of repeat interruptions on spinocerebellar ataxia type 10 expansions and repeat instability.

Eur J Hum Genet 2013 Nov 27;21(11):1272-6. Epub 2013 Feb 27.

1] Department of Neurology, University of Florida, Gainesville, FL, USA [2] Evelyn F & William L McKnight Brain Institute, University of Florida, Gainesville, FL, USA.

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http://dx.doi.org/10.1038/ejhg.2013.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798839PMC
November 2013

Olfactory impairment in familial ataxias.

J Neurol Neurosurg Psychiatry 2012 Oct 11;83(10):970-4. Epub 2012 Jul 11.

Department of Neurology, Hospital de Clínicas, Federal University of Paraná, Curitiba-PR, Brazil.

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http://dx.doi.org/10.1136/jnnp-2012-302770DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521149PMC
October 2012

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.

Clinics (Sao Paulo) 2012 ;67(5):443-9

Hospital de Clínicas, Federal University of Paraná, Internal Medicine Department, Neurology Service, Movement Disorders Unit, Curitiba/PR, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3351252PMC
http://dx.doi.org/10.6061/clinics/2012(05)07DOI Listing
February 2013

Chromosome 19p13.3 deletion in a child with Peutz-Jeghers syndrome, congenital heart defect, high myopia, learning difficulties and dysmorphic features: Clinical and molecular characterization of a new contiguous gene syndrome.

Genet Mol Biol 2011 Oct 1;34(4):557-61. Epub 2011 Oct 1.

Núcleo de Investigação Molecular Avançada, Programa de Pós-Graduação em Ciências da Saúde, Centro de Ciencias Biológicas e da Saúde, Pontificia Universidade Catolica do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/S1415-47572011005000044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229108PMC
October 2011

Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: a locus associated with Asperger syndrome?

Am J Med Genet A 2011 Sep 3;155A(9):2308-10. Epub 2011 Aug 3.

Graduate Program in Health Sciences (PPGCS), Center for Biological and Health Sciences (CCBS), Pontificia Universidade Catolica do Parana (PUCPR) Curitiba, PR, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.34196DOI Listing
September 2011

Tremor in X-linked recessive spinal and bulbar muscular atrophy (Kennedy's disease).

Clinics (Sao Paulo) 2011 ;66(6):955-7

Neurology Service, Internal Medicine Department, Hospital de Clínicas, University of Paraná, Curitiba, PR, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129962PMC
http://dx.doi.org/10.1590/s1807-59322011000600006DOI Listing
March 2012

Spinocerebellar ataxia type 10 - A review.

Parkinsonism Relat Disord 2011 Nov 29;17(9):655-61. Epub 2011 Apr 29.

Movement Disorders Unit, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1016/j.parkreldis.2011.04.001DOI Listing
November 2011

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization.

Am J Med Genet A 2011 May 11;155A(5):1152-6. Epub 2011 Apr 11.

Group for Advanced Molecular Investigation, Graduate Program in Health Sciences, Center for Biological and Health Sciences, Pontifícia Universidade Católica do Parana, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.33942DOI Listing
May 2011

Application of genetic testing to define the surgical approach in a sporadic case of multiple endocrine neoplasia type 1.

Arq Bras Endocrinol Metabol 2010 Nov;54(8):705-10

Endocrine Division, SEMPR, Department of Internal Medicine, Hospital das Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-27302010000800007DOI Listing
November 2010

Cutis laxa: case report.

An Bras Dermatol 2010 Sep-Oct;85(5):684-6

Pontifícia Universidade Católica do Paraná, Curitiba, PR, Brasil.

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http://dx.doi.org/10.1590/s0365-05962010000500013DOI Listing
October 2011

Spinocerebellar ataxia type 10: Frequency of epilepsy in a large sample of Brazilian patients.

Mov Disord 2010 Dec;25(16):2875-8

Department of Internal Medicine, Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1002/mds.23324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3000879PMC
December 2010

CFTR allelic heterogeneity in Brazil: historical and geographical perspectives and implications for screening and counseling for cystic fibrosis in this country.

J Hum Genet 2010 Feb 27;55(2):71-6. Epub 2009 Nov 27.

Center for Health and Biological Sciences, Pontifícia Universidade Católica do Paraná, Curitiba, Brazil.

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http://dx.doi.org/10.1038/jhg.2009.123DOI Listing
February 2010

Holoprosencephaly, ectrodactyly, and bilateral cleft of lip and palate: exclusion of SHH, TGIF, SIX3, GLI2, TP73L, and DHCR7 as candidate genes.

Am J Med Genet A 2009 Jun;149A(6):1277-9

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo, Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32844DOI Listing
June 2009

CTA/CTG expansions at the SCA 8 locus in multiple system atrophy.

Clin Neurol Neurosurg 2009 Feb 5;111(2):208-10. Epub 2008 Nov 5.

Department of Neurology, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1016/j.clineuro.2008.09.003DOI Listing
February 2009

Spinocerebellar ataxia type 6 in Brazil.

Arq Neuropsiquiatr 2008 Sep;66(3B):691-4

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2008000500015DOI Listing
September 2008

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene.

Arq Neuropsiquiatr 2007 Dec;65(4A):965-8

Neurology Service, Hospital de Clínicas, Federal University of Paraná, Rua General Carneiro 181, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2007000600008DOI Listing
December 2007

The G2019S LRRK2 mutation in Brazilian patients with Parkinson's disease: phenotype in monozygotic twins.

Mov Disord 2008 Jan;23(2):290-4

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1002/mds.21832DOI Listing
January 2008

Non-choreic movement disorders as initial manifestations of Huntington's disease.

Arq Neuropsiquiatr 2007 Jun;65(2B):402-5

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2007000300007DOI Listing
June 2007

Rett syndrome: clinical and molecular characterization of two Brazilian patients.

Arq Neuropsiquiatr 2007 Mar;65(1):36-40

Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1590/s0004-282x2007000100009DOI Listing
March 2007

Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.

Arch Neurol 2007 Apr;64(4):591-4

Genetika Laboratory, Alameda Augusto Stellfeld, Curitiba, Brazil.

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http://dx.doi.org/10.1001/archneur.64.4.591DOI Listing
April 2007

Atypical parkinsonism and SCA8.

Parkinsonism Relat Disord 2006 Apr 20;12(3):191-2. Epub 2005 Dec 20.

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http://linkinghub.elsevier.com/retrieve/pii/S135380200500198
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http://dx.doi.org/10.1016/j.parkreldis.2005.10.001DOI Listing
April 2006

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

Mov Disord 2006 Feb;21(2):279-81

Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1002/mds.20775DOI Listing
February 2006

Kennedy's disease phenotype with positive genetic study for Kugelberg-Welander's disease: case report.

Arq Neuropsiquiatr 2005 Jun;63(2A):330-1

Department of Internal Medicine, Neuromuscular Service, Clinical Hospital, Universidade Federal do Paraná, Curitiba PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2005000200025DOI Listing
June 2005

Leber's hereditary optic neuropathy--case report and literature review.

Sao Paulo Med J 2004 Nov 2;122(6):276-9. Epub 2005 Feb 2.

Neurology Outpatient Clinic, Neurology Service, Department of Internal Medicine, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.

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http://dx.doi.org/10.1590/s1516-31802004000600010DOI Listing
November 2004

Cerebrotendinous xanthomatosis: report of two Brazilian brothers.

Arq Neuropsiquiatr 2004 Dec 15;62(4):1085-9. Epub 2004 Dec 15.

Serviço de Neurologia, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2004000600028DOI Listing
December 2004

Cystic fibrosis with normal sweat chloride concentration--case report.

Rev Hosp Clin Fac Med Sao Paulo 2003 Sep-Oct;58(5):260-2. Epub 2003 Nov 11.

Children's Institute, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo/SP, Brazil.

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http://dx.doi.org/10.1590/s0041-87812003000500005DOI Listing
August 2006

CFTR molecular analysis reveals infrequent allele frequencies in nine cystic fibrosis patients from São Paulo State, Brazil.

Hum Biol 2003 Jun;75(3):393-8

Genetics Service, Molecular Biology Department, Faculty of Medicine (FAMERP), São José do Rio Preto, SP, Brazil.

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http://dx.doi.org/10.1353/hub.2003.0042DOI Listing
June 2003