C. Speck-Martins

发表

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

D. Valle, E. Jabs, J. Carey, 2017, American journal of medical genetics. Part A.

Additional features of unique Primrose syndrome phenotype

C. Speck-Martins, D. Carvalho, Carlos Eduardo Speck‐Martins, 2011, American journal of medical genetics. Part A.

Use of misoprostol during pregnancy and Möbius' syndrome in infants.

G. Koren, C. Speck-Martins, D. Brunoni, 1998, The New England journal of medicine.

Clinical and Molecular Features of Patients with Congenital Disorders of Glycosylation in Brazil

C. Speck-Martins, D. Carvalho, L. Farage, 2013 .

Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement.

C. Speck-Martins, J. M. Brum, I. Rizzo, 2008, Arquivos de neuro-psiquiatria.

Brain MRI and Magnetic Resonance Spectroscopy Findings in Patients with Hyperargininemia

C. Speck-Martins, R. Pratesi, D. Carvalho, 2014, Journal of neuroimaging : official journal of the American Society of Neuroimaging.

Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.

C. Speck-Martins, R. Pratesi, D. Carvalho, 2012, Gene.

Clinical features and neurologic progression of hyperargininemia.

C. Speck-Martins, R. Pratesi, D. Carvalho, 2012, Pediatric neurology.

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

C. Speck-Martins, D. Carvalho, K. Abe, 2018, Clinical case reports.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

C. Speck-Martins, J. M. Brum, S. Santos, 2018, Molecular genetics & genomic medicine.

Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis.

N. Niikawa, C. Speck-Martins, H. Safatle, 2000, American journal of medical genetics.

Regulatory variants of FOXG1 in the context of its topological domain organisation

N. Tommerup, Nadja Ehmke, A. Vianna-Morgante, 2018, European Journal of Human Genetics.

Tibial hemimelia in Langer–Giedion syndrome with 8q23.1‐q24.12 interstitial deletion

C. Speck-Martins, D. Carvalho, S. Santos, 2011, American journal of medical genetics. Part A.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

S. Mundlos, M. Spielmann, C. Rivolta, 2021, Nature.

Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.

T. Ferguson, T. Bird, S. Kaler, 2010, American journal of human genetics.

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs

M. Uesugi, C. Speck-Martins, G. Nicholson, 2020, Disease Models & Mechanisms.

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Janice S. Lee, M. Leppert, F. Collins, 2017, Nature Communications.

Homozygosity enhances severity in spinocerebellar ataxia type 3.

C. Speck-Martins, D. Carvalho, I. Rizzo, 2008, Pediatric neurology.

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).

S. Züchner, C. Speck-Martins, G. Nicholson, 2016, Metallomics : integrated biometal science.

Craniofacial findings in fibrodysplasia ossificans progressiva: computerized tomography evaluation.

C. Speck-Martins, D. Carvalho, L. Farage, 2011, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.

C. Speck-Martins, C. Leite, J. M. Brum, 2014, Arquivos de neuro-psiquiatria.

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

C. Ferreira, N. Sobreira, C. Speck-Martins, 2020, American journal of medical genetics. Part A.

Apolipoprotein E genotype and cerebral palsy

L. Braga, C. Speck-Martins, E. M. Borigato, 2010, Developmental medicine and child neurology.

Variable Presentation and Reduced Penetrance in Autosomal Dominant Acute Necrotizing Encephalopathy Related to RANBP2 Variant

C. Speck-Martins, D. Carvalho, B. J. Martins, 2020, Journal of Pediatric Genetics.

3T MR with diffusion tensor imaging and single‐voxel spectroscopy in giant axonal neuropathy

P. Barker, C. Speck-Martins, L. Farage, 2008, Journal of magnetic resonance imaging : JMRI.

Late onset polyneuropathy due to exposure to organophosphates

C. Speck-Martins, Carod-Artal Fj, 1999 .