Cargando…

Familial Spastic Paraparesis: A Novel Mutation in a 4-Year-Old Girl

Detalles Bibliográficos
Autores principales:	Singanamalla, Bhanudeep, Kesavan, Shivan, Saini, Arushi G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2020
Materias:	Letters to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7313577/ https://www.ncbi.nlm.nih.gov/pubmed/32606547 http://dx.doi.org/10.4103/aian.AIAN_424_19

Ejemplares similares

Oculogyric Crisis in a Girl with Infantile Parkinsonism-Dystonia-2
por: Singanamalla, Bhanudeep, et al.
Publicado: (2021)

Epilepsy and Hydrocephalus: Should Pyridoxine-Dependent Epilepsy Cross Our Minds?
por: Kesavan, Shivan, et al.
Publicado: (2020)

Florid Brain Calcification in a Child with X-Linked Adrenoleukodystrophy: What Does it Signify?
por: Bhanudeep, Singanamalla, et al.
Publicado: (2021)

Reversible Spastic Paraparesis
por: Kasinathan, Ananthanarayanan, et al.
Publicado: (2019)

Carbonic Anhydrase-VA Deficiency: A Close Mimicker of Urea Cycle Disorders
por: Singanamalla, Bhanudeep, et al.
Publicado: (2021)

Neurodegeneration with Progressive Dystonia: Juvenile-Onset Tay–Sachs Disease
por: Kaur, Jasmine, et al.
Publicado: (2022)

West Syndrome and Neurocutaneous Syndromes: A Never-ending Association
por: Bhanudeep, Singanamalla, et al.
Publicado: (2020)

Bilateral Calf Hypertrophy and Isolated Motor Delay: Think Beyond Muscular Dystrophy
por: Hassan, Ijas, et al.
Publicado: (2021)

Adrenoleukodystrophy as a Cause of Spastic Paraparesis and Hyperpigmentation
por: Chary, Priyanka Kesavan, et al.
Publicado: (2021)

An Unusual Cause for Cauda Equina and Spastic Paraparesis: Two Cases of Brucellar Arachnoiditis without Spondylodiscitis or Constitutional Symptoms
por: Menon, Deepak, et al.
Publicado: (2022)

Health service experiences among adults with hereditary spastic paraparesis or neurofibromatosis type 1
por: Fjermestad, Krister W., et al.
Publicado: (2020)

MTHFR Deficiency: A Potentially Treatable Cause of Adult-Onset Hereditary Spastic Paraparesis
por: Sudheer, Pachipala, et al.
Publicado: (2022)

Leukodystrophy-Like Presentation in a Child: A Case of Hereditary Spastic Paraparesis-35
por: Sugumar, Kiruthiga, et al.
Publicado: (2022)

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN): Two Phenotypes—Dystonia and Spastic Paraparesis
por: Kola, Sruthi, et al.
Publicado: (2022)

Black Holes in the Brain and Spine: A Dark Disease
por: Singanamalla, Bhanudeep, et al.
Publicado: (2020)

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
por: Rydning, Siri L, et al.
Publicado: (2019)

Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
por: Kazamel, Mohamed, et al.
Publicado: (2014)

Diagnostic gait pattern in a treatable neuromuscular disorder
por: Singanamalla, Bhanudeep, et al.
Publicado: (2020)

Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer’s disease with cotton wool plaques due to a novel presenilin1 G417S mutation
por: Miki, Tomoko, et al.
Publicado: (2019)

Factors Involved in Pain Perception and Quality of Life in Patients with Tropical Spastic Paraparesis
por: Criado-Martinez, Sebastian, et al.
Publicado: (2022)

Spastic Paraparesis Following Cocaine Inhalation
por: Savage, Henry Oluwasefunmi, et al.
Publicado: (2009)

Intrathecal Baclofen in Hereditary Spastic Paraparesis
por: Pucks-Faes, Elke, et al.
Publicado: (2019)

COVID-19 Pandemic and Child Neurology Training: A Bumpy Road Ahead
por: Singanamalla, Bhanudeep, et al.
Publicado: (2021)

Neurological Manifestations of COVID-19 in Children: Time to Be More Vigilant
por: Madaan, Priyanka, et al.
Publicado: (2021)

Acute Flaccid Myelitis Surveillance During the COVID-19 Pandemic
por: Singanamalla, Bhanudeep, et al.
Publicado: (2021)

Cobalamin C Disease: Cognitive Dysfunction, Spastic Ataxic Paraparesis, and Cerebral White Matter Hyperintensities in a Genetic but Easily Treatable Cause!
por: Agarwal, Ayush, et al.
Publicado: (2021)

Familial Clusters of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis
por: Nozuma, Satoshi, et al.
Publicado: (2014)

Predominant Spastic Paraparesis Associated With the D178N Mutation in PRNP
por: Thams, Sebastian, et al.
Publicado: (2021)

Mania associated with complicated hereditary spastic paraparesis
por: Nayak, Raghavendra B, et al.
Publicado: (2011)

Gait Patterns in Patients with Hereditary Spastic Paraparesis
por: Serrao, Mariano, et al.
Publicado: (2016)

Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
por: Bhattacharjee, Shakya, et al.
Publicado: (2017)

Paraparesis in Unilateral Medial Medullary Infarction
por: Yoon, Cindy W, et al.
Publicado: (2021)

Early-onset Trichotillomania with Habit Disorder in a 5-Year-Old-Girl – With Trichoscopic Findings
por: Lal, Mohan, et al.
Publicado: (2020)

Correction: Familial Clusters of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis
por: Nozuma, Satoshi, et al.
Publicado: (2016)

Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis
por: Kanavin, Øivind J., et al.
Publicado: (2018)

An epidemic of spastic paraparesis of unknown aetiology in Northern Mozambique
por: Taibo, Cátia Luciana Abdulfattáhe, et al.
Publicado: (2017)

A Rare Patient with Hereditary Spastic Paraparesis with Parkinsonism
por: Onder, Halil, et al.
Publicado: (2023)

Gastric Trichobezoar in a 6-Year Old Girl
por: Joshi, NM, et al.
Publicado: (2015)

8-Year-Old Girl with Polymorphic Scars on the Face
por: Dabas, Garima, et al.
Publicado: (2020)

The Coexistence of Multiple Sclerosis and Hereditary Spastic Paraparesis in a Patient
por: Yazıcı, Işıl, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_g0ancdrgh318237620vplo6qa4