Results 211 to 220 of about 52,839 (293)

Advanced Presentation of GEMIN5 Neurodevelopmental Disorder in an Elderly Female. [PDF]

Cureus
Thaw MT, Thida Nwe H, Thura K, Wynn KKK, Mohammad A, Grote H.   +5 more
europepmc   +1 more source

JAK2 Variant and Parkinsonian Syndromes: Coincidence or Pathophysiological Link?

Movement Disorders Clinical Practice, EarlyView.
Abstract Background JAK2 variants are a hallmark of myeloproliferative neoplasms (MPNs), including polycythemia vera and essential thrombocythemia. These disorders are often associated with thrombotic and inflammatory complications. From a movement disorder perspective, chorea is a rare but well‐recognized neurological occurrence in this context ...
Elena Ardila Jurado, Koustubh Bavdhankar, Divyani Garg, Francesca Magrinelli, Huw R. Morris, Kailash P. Bhatia   +5 more
wiley   +1 more source

Mild form of aromatic L-amino acid decarboxylase deficiency. [PDF]

BMJ Case Rep
Kenina V, Dīriks M, Pūcīte E, Mūrmane D, Lace B.   +4 more
europepmc   +1 more source

A lethal form of ASCC3 disease: Severe global developmental delay, axial hypotonia, hypoplasia of corpus callosum, hypothyroidism, and micropenis. [PDF]

HGG Adv
Narkis G, Dolgin V, Sued-Hendrickson S, Zahran J, Kanengisser-Pines B, Smooha-Schechter G, Carmon L, Shorer Z, Michaelovsky A, Birk OS.   +9 more
europepmc   +1 more source

Gene Therapy for Amino Acid Decarboxylase Deficiency: Clinical and Imaging Outcomes in a French Cohort

Movement Disorders, EarlyView.
Abstract Background Intracerebral gene therapy is effective for amino acid decarboxylase (AADC) deficiency, but relationships between anatomical putaminal coverage, metabolic dynamics, and clinical recovery remain poorly understood. Objectives Assess safety, long‐term efficacy, and clinical–radiological correlations in a genetically diverse European ...
Clément Dunoyer, Gaëtan Poulen, Marie‐Céline François‐Heude, Eline Chauvet‐Piat, Bérénice Lecardonnel, Emmanuel Roze, Marie‐Ange Nguyen Morel, Domitille Gras, Adeline Quintard, Gaelle Baroux, Pierre Meyer, Philippe Coubes, Christophe Milesi, Julien Baleine, Chrystelle Sola, Vivien Szabo, Bénédicte Delye, Jana Haberlova, Mohamed Osman Eltahir Babiker, Mohammed Al Muqbil, Stéphanie Sanchez, Souad Touati, Nicolas Leboucq, Virginie Kouyoumdjian, Sylvia Sanquer, Denis Mariano‐Goulart, Thomas Roujeau, Agathe Roubertie   +27 more
wiley   +1 more source

Expanding Spectrum of FIG4-Related Neurological Disorders of Lysosomal Homeostasis: Case Report and Overview of the Potential Genotype-Phenotype Correlations. [PDF]

Clin Genet
Prasun P, Rasberry M.
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Open bite malocclusion and orofacial dysfunction in patients with rare diseases. [PDF]

Eur J Orthod
Havner C, Mogren Å, Sjögreen L, Westerlund A.   +3 more
europepmc   +1 more source

Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims GNE myopathy (GNEM) is a rare, autosomal recessive disorder caused by mutations in the UDP‐N‐acetylglucosamine (GlcNAc) 2‐epimerase/N‐acetylmannosamine (ManNAc) kinase (GNE) gene, which encodes a required enzyme for sialic acid (SA) biosynthesis.
Kristina M. Sattler, Brian J. Paleo, Mackenzie N. Roth, Kara E. Bradley, Megan N. Winkler, Wakako Yoshioka, Ichizo Nishino, Christoph Lepper, Kelly E. Crowe   +8 more
wiley   +1 more source

Goldberg-Shprintzen Megacolon Syndrome Diagnosed in the Neonatal Period: A Case Report With Molecular Confirmation. [PDF]

Cureus
Papaioannou E, Anastasiadou E.
europepmc   +1 more source