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Multiple Sclerosis and Related Disorders
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March 9, 2019
Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation?
João Durães, Margarida Gonçalo, Lívia Sousa, et al.
BMJ Case Reports
|
October 24, 2015
Severe post-influenza (H1N1) encephalitis involving pulvinar nuclei in an adult patient
José Tomás, Maria Carmo Macário, Elsa Gaspar, et al.
BMJ Case Reports
|
September 24, 2015
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation
José Tomás, João Durães, Lúcia Lacerda, et al.
Parkinsonism & Related Disorders
|
September 3, 2025
Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome
José Miguel Alves, Rita Machado, Maria Carmo Macário, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
October 13, 2018
Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma
João Durães, Inês Coutinho, Angelina Mariano, et al.
BMJ Case Reports
|
March 13, 2020
Adult-onset methylenetetrahydrofolate reductase deficiency
Daniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, et al.
American Journal of Medical Genetics. Part A
|
July 27, 2019
Woodhouse-Sakati Syndrome: First report of a Portuguese case
Pedro Louro, João Durães, Diana Oliveira, et al.
Cornea
|
August 6, 2009
Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy
Rui Tavares, Dalila Coelho, Maria Carmo Macário, et al.
European Journal of Medical Genetics
|
December 29, 2016
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes
Mafalda Bacalhau, João Pratas, Marta Simões, et al.
Genetics in Medicine Open
|
December 3, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity
James H Nurse, Julia B Hennermann, Marco A Curiati, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 12) with videos related to
Sort By:
Page
of 2
Multiple Sclerosis and Related Disorders
|
March 9, 2019
Hypocomplementemic urticarial vasculitis and multiple Sclerosis: A rare association or an atypical presentation?
João Durães, Margarida Gonçalo, Lívia Sousa, et al.
BMJ Case Reports
|
October 24, 2015
Severe post-influenza (H1N1) encephalitis involving pulvinar nuclei in an adult patient
José Tomás, Maria Carmo Macário, Elsa Gaspar, et al.
BMJ Case Reports
|
September 24, 2015
Adolescent-onset Krabbe disease with an initial diagnosis of multiple sclerosis and a novel mutation
José Tomás, João Durães, Lúcia Lacerda, et al.
Parkinsonism & Related Disorders
|
September 3, 2025
Adult-onset non-kinesigenic paroxysmal dyskinesia in GLUT1 deficiency syndrome
José Miguel Alves, Rita Machado, Maria Carmo Macário, et al.
Multiple Sclerosis (Houndmills, Basingstoke, England)
|
October 13, 2018
Demyelinating disease of the central nervous system associated with Pembrolizumab treatment for metastatic melanoma
João Durães, Inês Coutinho, Angelina Mariano, et al.
BMJ Case Reports
|
March 13, 2020
Adult-onset methylenetetrahydrofolate reductase deficiency
Daniela Vieira, Cristina Florindo, Isabel Tavares de Almeida, et al.
American Journal of Medical Genetics. Part A
|
July 27, 2019
Woodhouse-Sakati Syndrome: First report of a Portuguese case
Pedro Louro, João Durães, Diana Oliveira, et al.
Cornea
|
August 6, 2009
Evaluation of treatment with cysteamine eyedrops for cystinosis with confocal microscopy
Rui Tavares, Dalila Coelho, Maria Carmo Macário, et al.
European Journal of Medical Genetics
|
December 29, 2016
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes
Mafalda Bacalhau, João Pratas, Marta Simões, et al.
Genetics in Medicine Open
|
December 3, 2025
Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity
James H Nurse, Julia B Hennermann, Marco A Curiati, et al.
Page
of 2