Search Results - "Matos, Anabela"

A 6-month trial of memantine for nystagmus and associated phenomena in oculopalatal tremor by Martins, Ana Inês, Soares-dos-Reis, Ricardo, Jorge, André, Duque, Cristina, Pereira, Daniela Jardim, Fontes Ribeiro, Carlos, Sargento-Freitas, João, Matos, Anabela, Negrão, Luís, Lemos, João

“…Introduction Oculopalatal tremor (OPT) is a late manifestation of a Guillain-Mollaret triangle lesion. Memantine has been shown to improve nystagmus in OPT,…”
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Mielite Extensa como Manifestação de Neuroborreliose by Brás, Ana, Marques, Nuno, Santiago, Beatriz, Matos, Anabela, Moreira, Fradique

“…As manifestações neurológicas na doença de Lyme ocorrem em 3% - 12% dos doentes, sendo a forma de apresentação mais comum a meningorradiculite. Outros sintomas…”
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Neurological Findings in Behçet’s Disease by Brites, Luisa, Ribeiro, Joana, Matos, Anabela, Santiago, Mariana

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Limb-girdle muscular dystrophy type 2L - A case series from a tertiary center (P5.449) by Varela, Ricardo, Sousa, Mário, Matos, Anabela, Geraldo, Argemiro, Rebelo, Olinda, Negrão, Luís

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Clinical, pathological and molecular characterization of a Limb-girdle muscular dystrophy type 2I(LGMD-2I) cohort (P5.452) by Sousa, Mario, Varela, Ricardo, Matos, Anabela, Geraldo, Argemiro, Rebelo, Olinda, Negrão, Luís

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Adult-onset leukodystrophy with vanishing white matter: a case series of 19 patients by Benzoni, Chiara, Moscatelli, Marco, Farina, Laura, Magri, Stefania, Ciano, Claudia, Scaioli, Vidmer, Alverà, Sara, Cammarata, Gabriella, Bianchi-Marzoli, Stefania, Castellani, Massimo, Zito, Felicia Margherita, Marotta, Giorgio, Piacentini, Sylvie, Villacara, Alberto, Mantegazza, Renato, Gellera, Cinzia, Durães, João, Gouveia, Ana, Matos, Anabela, do Carmo Macário, Maria, Pareyson, Davide, Taroni, Franco, Di Bella, Daniela, Salsano, Ettore

“…Background Leukodystrophy with vanishing white matter (LVWM) is an autosomal recessive disease with typical pediatric-onset caused by mutations in one of the…”
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Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2 by Carneiro, Diogo Reis, Rebelo, Olinda, Matos, Anabela, Baldeiras, Inês, Almendra, Luciano, Fernandes, Carolina, Negrão, Luís, Almeida, Maria Rosário, Matias, Fernando, Brás, José, Guerreiro, Rita, Santo, Gustavo C

“…•Deficiency of adenosine deaminase 2 (DADA2) is a treatable genetic cause of systemic vasculitis.•Peripheral nerve involvement may include vasculitic…”
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Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases by Antunes Cunha, Inês, Brás, Ana, Silva, Fátima, Matos, Anabela

“…Familial amyloidosis of the Finnish type (FAF) is a rare multisystemic disorder caused by mutations in the gelsolin gene. The clinical presentation is…”
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Novel mutation in MYH7 gene causing scapuloperoneal syndrome (P4.122) by Varela, Ricardo, Brás, Ana, Rebelo, Olinda, Matos, Anabela, Geraldo, Argemiro, Lourenço, Miguel, Laranjeiro, Francisco, Marmiesse, Ana, Marques, Cristina, Negrao, Luis

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Macrophagic myofasciitis and vaccination: Consequence or coincidence? by Santiago, Tânia, Rebelo, Olinda, Negrão, Luís, Matos, Anabela

“…Macrophagic myofasciitis (MMF) characterized by specific muscle lesions assessing long-term persistence of aluminum hydroxide within macrophages at the site of…”
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A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement by Ramos-Lopes, Joana, Ribeiro, Joana, Laço, Mário, Alves, Cristina, Matos, Anabela, Costa, Cármen

“…A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand…”
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Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case–control study by Tábuas‐Pereira, Miguel, Almendra, Luciano, Almeida, Maria Rosário, Durães, João, Pinho, André, Matos, Anabela, Negrão, Luis, Geraldo, Argemiro, Santana, Isabel

“…ABSTRACT Introduction: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum…”
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Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I by Jesus-Ribeiro, Joana, Farinha, Cláudia, Amorim, Margarida, Matos, Anabela, Reis, Aldina, Lemos, João, Castelo-Branco, Miguel, Januário, Cristina

“…Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of…”
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Anti-NMDAR Encephalitis Following Herpes Simplex Virus Encephalitis: 2 Cases From Portugal by Brás, Ana, André, Ana, Sá, Laura, Carvalho, João, Matos, Anabela, Gens, Helena, Nzwalo, Hipólito

“…Herpes simplex virus encephalitis (HSVE) usually presents as a monophasic disease. Symptomatic HSVE relapsing with seizures, encephalopathy, or involuntary…”
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Tremor Frequency Assessment by iPhone® Applications: Correlation with EMG Analysis by Araújo, Rui, Tábuas-Pereira, Miguel, Almendra, Luciano, Ribeiro, Joana, Arenga, Marta, Negrão, Luis, Matos, Anabela, Morgadinho, Ana, Januário, Cristina

“…Tremor frequency analysis is usually performed by EMG studies but accelerometers are progressively being more used. The iPhone® contains an accelerometer and…”
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Anti-MuSK-positive myasthenia gravis diagnosed during pregnancy: new challenges for an old disease? by Neves, Ana Raquel, Monteiro, Pitorra, Matos, Anabela, Santos Silva, Isabel

“…Myasthenia gravis is an autoimmune disorder affecting predominantly women in their reproductive age. The course of the disease during pregnancy is…”
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Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families by Negrão, Luís, Almendra, Luciano, Ribeiro, Joana, Matos, Anabela, Geraldo, Argemiro, Pinto-Basto, Jorge

“…CMT4B2 is a rare subtype of CMT caused by pathogenic mutations in the myotubularin-related protein-13/set binding factor 2 (MTMR13/SBF2) gene. Nerve conduction…”
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Extensive Myelitis as a Manifestation of Neuroborreliosis by Brás, Ana, Marques, Nuno, Santiago, Beatriz, Matos, Anabela, Moreira, Fradique

“…Neurological manifestations of Lyme disease are reported in 3% - 12% of patients, with the most common form of presentation being meningoradiculitis. Other…”
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Anti-NMDAR Encephalitis Following Herpes Simplex Virus Encephalitis: 2 Cases From Portugal by Brás, Ana, André, Ana, Sá, Laura, Carvalho, João, Matos, Anabela, Gens, Helena, Nzwalo, Hipólito

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Vasculitic peripheral neuropathy in deficiency of adenosine deaminase 2 by Carneiro, Diogo Reis, Rebelo, Olinda, Matos, Anabela, Baldeiras, Inês, Almendra, Luciano, Fernandes, Carolina, Negrão, Luís, Almeida, Maria Rosário, Matias, Fernando, Brás, José, Guerreiro, Rita, Santo, Gustavo C

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